Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SYNPO2	171024	broad.mit.edu	37	4	119948371	119948371	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119948371C>T	ENST00000307142.4	+	3	1043	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R283W|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R283W|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	283						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R283W(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGACTGCCCCGGGTGGAAGT	0.557000													28	65					0	0	0.760397	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182681763	182681763	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:182681763T>C	ENST00000292782.4	-	3	448	c.295A>G	c.(295-297)Agc>Ggc	p.S99G	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.S84G	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	99	DCUN1.					ubiquitin ligase complex	protein binding	p.S99G(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACACTAATGCTGGCTGGATCG	0.418000													19	148					0	0	0.639603	0	0
FCRL4	83417	broad.mit.edu	37	1	157556176	157556176	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:157556176A>T	ENST00000271532.1	-	6	1052	c.917T>A	c.(916-918)cTg>cAg	p.L306Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	306	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.L306Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GACAAGGACCAGCATCTCCCC	0.602000													64	176					0	0	0.870114	0	0
NLRP2	55655	broad.mit.edu	37	19	55497607	55497607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:55497607G>T	ENST00000543010.1	+	8	2433	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	NLRP2_ENST00000339757.7_Missense_Mutation_p.G742C|NLRP2_ENST00000537859.1_Missense_Mutation_p.G742C|NLRP2_ENST00000391721.4_Missense_Mutation_p.G740C|NLRP2_ENST00000448584.2_Missense_Mutation_p.G764C|NLRP2_ENST00000427260.2_Missense_Mutation_p.G741C|NLRP2_ENST00000263437.6_Missense_Mutation_p.G761C|NLRP2_ENST00000538819.1_Missense_Mutation_p.G740C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	764					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.G764C(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCCTTCAAGGCAATGACCA	0.443000													17	38					6.94344e-10	8.40195e-10	0.539581	1	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328321	21328321	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21328321C>T	ENST00000444326.1	+	0	437																		p.P67S(1)									CGATGAAGTGCCTTTCTACAT	0.423000													13	540					0	0	0.479597	0	0
CSMD3	114788	broad.mit.edu	37	8	113348989	113348989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113348989G>T	ENST00000297405.5	-	44	7155	c.6911C>A	c.(6910-6912)cCa>cAa	p.P2304Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2264Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2200Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2234Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2304	CUB 13.					integral to membrane|plasma membrane		p.P2304Q(1)|p.P2264Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGTTTGGATATTCATC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	242					2.17888e-05	2.4252e-05	0.335167	1	0
ZMYM4	9202	broad.mit.edu	37	1	35847281	35847281	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:35847281G>T	ENST00000314607.6	+	9	1571	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	ZMYM4_ENST00000373297.2_Silent_p.S497S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	497					multicellular organismal development		DNA binding|zinc ion binding	p.S497S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTGGGTCGGGACAATGCC	0.433000													35	317					4.14481e-20	5.95335e-20	0.819951	1	0
TRPM4	54795	broad.mit.edu	37	19	49704042	49704042	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:49704042G>T	ENST00000252826.5	+	19	3079	c.2953_splice	c.e19+1	p.V985_splice	TRPM4_ENST00000427978.2_Splice_Site_p.V840_splice|TRPM4_ENST00000355712.5_Splice_Site_p.V631_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	985					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.V985L(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACATGGACGGTAGGGGGGA	0.592000													7	15					0.000442599	0.000478856	0.335167	1	0
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153691700C>A	ENST00000304337.2	-	2	1277	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.G153C(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACTGGTACACCTGTAGCTTCT	0.363000													16	42					0.00121646	0.00128907	0.575678	1	0
CYB561A3	220002	broad.mit.edu	37	11	61121427	61121427	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:61121427C>G	ENST00000426130.2	-	5	1052	c.273G>C	c.(271-273)ggG>ggC	p.G91G	CYB561A3_ENST00000536915.1_Silent_p.G74G|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Silent_p.G74G|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000294072.4_Silent_p.G74G	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3									p.G91G(2)|p.G74G(2)									GCAGTTTGGGCCCCACCCACG	0.607000													13	53					0	0	0.520397	0	0
EDIL3	10085	broad.mit.edu	37	5	83239283	83239283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:83239283C>G	ENST00000296591.5	-	11	1816	c.1398G>C	c.(1396-1398)agG>agC	p.R466S	EDIL3_ENST00000380138.3_Missense_Mutation_p.R456S	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	466	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.R466S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTGATCCTCCCGTACC	0.488000													50	193					0	0	0.870114	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22868122	22868122	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:22868122C>T	ENST00000251822.6	+	7	2229	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	RHOBTB2_ENST00000519685.1_Silent_p.T586T|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.T571T	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	564	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.T564T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCATGTTCACCTCCAGCCCCG	0.587000													24	157					0	0	0.706142	0	0
ADCY6	112	broad.mit.edu	37	12	49170251	49170251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:49170251C>A	ENST00000307885.4	-	6	2189	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	ADCY6_ENST00000357869.3_Missense_Mutation_p.V499L|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.V499L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	499					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.V499L(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAGGGTCACATCATTGGAC	0.647000													16	40					0.000566183	0.000611952	0.520397	1	0
WNK4	65266	broad.mit.edu	37	17	40940775	40940775	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40940775A>C	ENST00000246914.5	+	11	2138	c.2117A>C	c.(2116-2118)gAt>gCt	p.D706A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	706					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.D706A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGATTTGATCTGGATGGG	0.517000													7	89					0	0	0.307466	0	0
TPH2	121278	broad.mit.edu	37	12	72416181	72416181	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:72416181C>G	ENST00000333850.3	+	9	1212	c.1071C>G	c.(1069-1071)tgC>tgG	p.C357W		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	357					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.C357W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTCTTCAGTGCTATTTCTTCA	0.413000													10	270					0	0	0.411799	0	0
CFH	3075	broad.mit.edu	37	1	196654266	196654266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196654266A>C	ENST00000367429.4	+	7	1103	c.863A>C	c.(862-864)gAt>gCt	p.D288A	CFH_ENST00000359637.2_Missense_Mutation_p.D224A|CFH_ENST00000439155.2_Missense_Mutation_p.D288A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	288	Sushi 5.				complement activation, alternative pathway	extracellular space		p.D288A(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAACTGGAGATGAAATCACG	0.383000													16	774					0	0	0.520397	0	0
IGSF5	150084	broad.mit.edu	37	21	41137527	41137527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41137527G>T	ENST00000380588.4	+	3	269	c.166G>T	c.(166-168)Gct>Tct	p.A56S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	56	Ig-like V-type 1.					integral to membrane|tight junction		p.A56S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGGCTCCCAGGCTCGCTTCAA	0.527000													65	138					1.25089e-41	2.14014e-41	0.870114	1	0
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94731788C>T	ENST00000304338.3	+	21	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.P754P(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358000													19	161					0	0	0.639603	0	0
BICD1	636	broad.mit.edu	37	12	32260458	32260458	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:32260458G>C	ENST00000548411.1	+	1	374	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	BICD1_ENST00000550207.1_Missense_Mutation_p.E65Q|BICD1_ENST00000281474.5_Missense_Mutation_p.E65Q|BICD1_ENST00000551086.1_Missense_Mutation_p.E65Q|RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000551848.1_Missense_Mutation_p.E65Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	65					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.E65Q(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCTCAAACAGGAGCTGGAGCA	0.577000													2	7					0	0	0.150653	0	0
KIF4B	285643	broad.mit.edu	37	5	154394396	154394396	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:154394396C>T	ENST00000435029.4	+	1	1137	c.977C>T	c.(976-978)aCc>aTc	p.T326I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	326	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACATTAAGTACCCTTCGCTAT	0.413000													10	413					0	0	0.411799	0	0
SLC27A2	11001	broad.mit.edu	37	15	50494839	50494839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:50494839G>T	ENST00000267842.5	+	3	1076	c.844G>T	c.(844-846)Gct>Tct	p.A282S	SLC27A2_ENST00000380902.4_Intron|SLC27A2_ENST00000544960.1_Missense_Mutation_p.A47S	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	282					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.A282S(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGTATTGTGGCTGGTAAGCT	0.428000													22	439					5.61819e-17	7.77075e-17	0.693898	1	0
C2orf78	388960	broad.mit.edu	37	2	74043181	74043181	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:74043181C>A	ENST00000409561.1	+	3	1952	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	611	Lys-rich.							p.Q581K(2)|p.Q611K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAGAAAAATCAACCTGAGCT	0.438000													35	118					4.90274e-10	5.95254e-10	0.819951	1	0
ATP4A	495	broad.mit.edu	37	19	36044671	36044671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:36044671G>T	ENST00000262623.3	-	17	2570	c.2542C>A	c.(2542-2544)Cgc>Agc	p.R848S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.R848S(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTTGGGTTGCGTGGACGCAGG	0.607000													4	16					1.23904e-05	1.38767e-05	0.184627	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714185	70714185	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70714185G>T	ENST00000530196.1	-	0	333					NR_003951.1																						CCAAACCGCAGACTATAGGAG	0.522000													4	43					0.00116845	0.0012394	0.217242	1	0
GDNF	2668	broad.mit.edu	37	5	37815930	37815930	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:37815930C>A	ENST00000326524.2	-	3	658	c.459G>T	c.(457-459)gaG>gaT	p.E153D	GDNF_ENST00000515058.1_Missense_Mutation_p.E127D|GDNF_ENST00000344622.4_Missense_Mutation_p.E127D|GDNF_ENST00000381826.4_Missense_Mutation_p.E144D|GDNF_ENST00000427982.1_Missense_Mutation_p.E170D	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	p.E170D(2)|p.E153D(2)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTACGTTGTCTCAGCTGCAT	0.443000													133	330					7.83929e-65	1.48426e-64	0.870114	1	0
ZNF236	7776	broad.mit.edu	37	18	74672732	74672732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:74672732C>G	ENST00000253159.8	+	30	5532	c.5334C>G	c.(5332-5334)taC>taG	p.Y1778*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Y1780*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1778					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y1778*(3)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCGGCCCTACAAGTGTGCCT	0.587000													4	95					0	0	0.184627	0	0
DNAH9	1770	broad.mit.edu	37	17	11726350	11726350	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:11726350A>T	ENST00000262442.3	+	48	9313	c.9246_splice	c.e48+1	p.Q3082_splice	DNAH9_ENST00000454412.2_Splice_Site_p.Q3082_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3082	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q3082L(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTCTGCCCAGGTGAGCAAT	0.542000													14	38					0	0	0.479597	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:17071902C>G	ENST00000359963.3	-	1	1798	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	513					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.Q513H(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTCACGAGCTGTAGCACCA	0.498000													41	77					0	0	0.870114	0	0
FCRLA	84824	broad.mit.edu	37	1	161680653	161680653	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:161680653G>A	ENST00000540926.1	+	3	494	c.201G>A	c.(199-201)caG>caA	p.Q67Q	FCRLA_ENST00000236938.6_Silent_p.Q78Q|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Silent_p.Q78Q|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367949.2_Silent_p.Q78Q|FCRLA_ENST00000367950.1_Silent_p.Q38Q|FCRLA_ENST00000367959.2_Silent_p.Q84Q|FCRLA_ENST00000349527.4_Silent_p.Q61Q|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367953.3_Silent_p.Q67Q|FCRLA_ENST00000309691.6_Silent_p.Q61Q			Q7L513	FCRLA_HUMAN	Fc receptor-like A	61					cell differentiation	cytoplasm|extracellular region		p.Q84Q(2)|p.Q61Q(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTTCCAGGTCAAGGCCT	0.562000													40	123					0	0	0.847076	0	0
TRANK1	9881	broad.mit.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:36872739C>T	ENST00000301807.6	-	21	8450	c.6553G>A	c.(6553-6555)Ggc>Agc	p.G2185S	TRANK1_ENST00000429976.2_Missense_Mutation_p.G2735S|TRANK1_ENST00000428977.2_Missense_Mutation_p.G2185S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2735					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.G2185S(2)|p.G2178S(2)|p.G2735S(2)|p.G2735C(1)|p.G2185C(1)|p.G2178C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCTGGGCCACGGGTAAAC	0.592000													37	131					0	0	0.834066	0	0
CDH6	1004	broad.mit.edu	37	5	31297485	31297485	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:31297485C>G	ENST00000265071.2	+	4	878	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q150E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q205E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTACAGGGACAGCCCTATTT	0.373000													20	311					0	0	0.575678	0	0
ATP1B4	23439	broad.mit.edu	37	X	119512560	119512560	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:119512560A>G	ENST00000218008.3	+	7	901	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.I239V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.I278V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	282					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.I278V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CATCCGATCCATCAGTTACTA	0.478000													107	184					0	0	0.870114	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432382	107432382	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:107432382A>G	ENST00000340010.5	-	4	459	c.275T>C	c.(274-276)tTa>tCa	p.L92S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L57S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAAATGCTAAACCTGTAAA	0.423000													10	213					0	0	0.335167	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455747	42455747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:42455747C>A	ENST00000262407.5	-	20	2108	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A693S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	693					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A693S(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTGCTTAGGGCCCGCATGTAG	0.647000													14	2					3.52763e-06	3.99208e-06	0.520397	1	0
TBX5	6910	broad.mit.edu	37	12	114804114	114804114	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:114804114C>T	ENST00000310346.4	-	8	1504	c.838G>A	c.(838-840)Gct>Act	p.A280T	TBX5_ENST00000405440.2_Missense_Mutation_p.A280T|TBX5_ENST00000349716.5_Missense_Mutation_p.A230T|TBX5_ENST00000526441.1_Missense_Mutation_p.A280T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	280					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A280T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGGAGAGAGCTCGAGACTCG	0.552000													21	224					0	0	0.624587	0	0
MMP10	4319	broad.mit.edu	37	11	102643716	102643716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:102643716C>A	ENST00000279441.4	-	8	1124	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	363	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R363I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCATTTCCTCTGATGGCCCA	0.368000													25	276					3.00307e-07	3.4636e-07	0.729181	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147259322	147259322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:147259322C>A	ENST00000361727.3	+	12	2386	c.1870C>A	c.(1870-1872)Cct>Act	p.P624T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	624	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P624T(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCTCTGGGGCCTCTGAAAGT	0.413000										HNSCC(39;0.1)			124	284					9.82225e-59	1.81838e-58	0.870114	1	0
OR6K3	391114	broad.mit.edu	37	1	158687393	158687393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158687393G>T	ENST00000368146.1	-	1	560	c.561C>A	c.(559-561)ccC>ccA	p.P187P	OR6K3_ENST00000368145.1_Silent_p.P171P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P187P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGATTTGGTTGGGCCCACAGA	0.512000													185	489					3.16392e-82	6.12975e-82	0.870114	1	0
MUC17	140453	broad.mit.edu	37	7	100678604	100678604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100678604G>T	ENST00000306151.4	+	3	3971	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1303	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V1303F(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACACTAA	0.458000													130	357					1.18812e-89	2.31428e-89	0.870114	1	0
NEB	4703	broad.mit.edu	37	2	152512820	152512820	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:152512820G>A	ENST00000427231.2	-	49	6544	c.6342C>T	c.(6340-6342)caC>caT	p.H2114H	NEB_ENST00000172853.10_Silent_p.H2114H|NEB_ENST00000409198.1_Silent_p.H2114H|NEB_ENST00000397345.3_Silent_p.H2114H|NEB_ENST00000603639.1_Silent_p.H2114H|NEB_ENST00000604864.1_Silent_p.H2114H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2114					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.H2114H(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGGCAGGGGTGTGGTAGCTGG	0.478000													95	290					0	0	0.870114	0	0
HDAC2	3066	broad.mit.edu	37	6	114270215	114270215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:114270215C>T	ENST00000519065.1	-	8	1145	c.769G>A	c.(769-771)Gct>Act	p.A257T	HDAC2_ENST00000368632.2_Missense_Mutation_p.A227T|HDAC2_ENST00000519108.1_Missense_Mutation_p.A227T|HDAC2_ENST00000398283.2_Missense_Mutation_p.A351T			Q92769	HDAC2_HUMAN	histone deacetylase 2	257	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.A257T(2)|p.A351T(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	AATACCACAGCACTAGGTTGA	0.378000													88	216					0	0	0.870114	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157231	12157231	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:12157231G>T	ENST00000263932.2	+	3	447	c.225G>T	c.(223-225)ctG>ctT	p.L75L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	75					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.L75L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACTACCTGGATGAGGCCG	0.577000													46	111					6.23363e-37	1.04182e-36	0.870114	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125850370	125850370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:125850370C>A	ENST00000393434.2	-	13	1829	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D504Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D494Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D393Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	494	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.D494Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCATGAGATCTGCCAACCTG	0.647000													17	51					1.00905e-13	1.31504e-13	0.575678	1	0
EPYC	1833	broad.mit.edu	37	12	91358003	91358003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:91358003G>T	ENST00000261172.3	-	7	991	c.899C>A	c.(898-900)cCt>cAt	p.P300H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	300					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.P300H(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GAGATTAATAGGGTTTCCATC	0.393000													41	59					3.70713e-34	6.08307e-34	0.870114	1	0
STARD7	56910	broad.mit.edu	37	2	96858109	96858109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:96858109C>G	ENST00000337288.5	-	6	1224	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	281	START.					mitochondrion		p.E281Q(2)|p.E206Q(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AAACTCACCTCATCAAATGAC	0.493000													78	241					0	0	0.870114	0	0
BDP1	55814	broad.mit.edu	37	5	70797393	70797393	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:70797393A>T	ENST00000380675.2	+	0	2224				BDP1_ENST00000358731.4_Missense_Mutation_p.H654L			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.H654L(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCACAGAACCACGTGGAAAAA	0.343000													27	117					0	0	0.760397	0	0
OR2G3	81469	broad.mit.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247769640C>A	ENST00000320002.2	+	1	785	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F251L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGATTATATTCTATGGCACCA	0.488000													30	157					9.21846e-06	1.03996e-05	0.769981	1	0
PDE6C	5146	broad.mit.edu	37	10	95425130	95425130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:95425130A>T	ENST00000371447.3	+	22	2670	c.2532A>T	c.(2530-2532)tcA>tcT	p.S844S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	844					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S844S(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTGAAGATTCAGGAGGTGGTG	0.318000													58	163					0	0	0.870114	0	0
TGFBR3	7049	broad.mit.edu	37	1	92174229	92174229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:92174229C>A	ENST00000212355.4	-	14	2743	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E760*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E759*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	760					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E760*(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTTTAGATTCTGCTTCATGG	0.493000													56	237					1.73933e-33	2.83262e-33	0.870114	1	0
NDRG2	57447	broad.mit.edu	37	14	21486634	21486634	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:21486634G>T	ENST00000556147.1	-	13	1783	c.843C>A	c.(841-843)acC>acA	p.T281T	NDRG2_ENST00000554104.1_Silent_p.T194T|NDRG2_ENST00000360463.3_Silent_p.T267T|NDRG2_ENST00000298684.5_Silent_p.T238T|NDRG2_ENST00000397853.3_Silent_p.T281T|NDRG2_ENST00000397847.2_Silent_p.T270T|NDRG2_ENST00000298687.5_Silent_p.T281T|NDRG2_ENST00000403829.3_Silent_p.T277T|NDRG2_ENST00000554143.1_Silent_p.T267T|NDRG2_ENST00000397858.1_Silent_p.T281T|NDRG2_ENST00000553503.1_Silent_p.T267T|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397851.2_Silent_p.T281T|NDRG2_ENST00000397855.3_Silent_p.T238T|NDRG2_ENST00000555158.1_Silent_p.T267T|NDRG2_ENST00000350792.3_Silent_p.T267T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	281					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		p.T281T(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACGAGGTCTGGGTGGGGTCCA	0.582000													14	33					9.16793e-09	1.08631e-08	0.520397	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168457	142168457	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142168457G>T	ENST00000454561.2	-	0	466																											GCTATCATTAGGGAACTGGAG	0.542000													9	209					7.45023e-12	9.42593e-12	0.592651	1	0
ELF2	1998	broad.mit.edu	37	4	139980627	139980627	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:139980627G>C	ENST00000394235.2	-	10	1758	c.1256C>G	c.(1255-1257)cCa>cGa	p.P419R	ELF2_ENST00000510408.1_Missense_Mutation_p.P359R|ELF2_ENST00000358635.3_Missense_Mutation_p.P371R|ELF2_ENST00000265495.4_Missense_Mutation_p.P419R|ELF2_ENST00000379549.2_Missense_Mutation_p.P342R|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Missense_Mutation_p.P431R	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	431					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P419R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GACTACCTTTGGAGAGGTCGC	0.438000													9	326					0	0	0.335167	0	0
PROM2	150696	broad.mit.edu	37	2	95945675	95945675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:95945675G>T	ENST00000317620.9	+	11	1490	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	PROM2_ENST00000403131.2_Missense_Mutation_p.G453C|PROM2_ENST00000317668.4_Missense_Mutation_p.G453C|PROM2_ENST00000542147.1_Missense_Mutation_p.G453C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	453						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G453C(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGCATCTGGGGCCTGTCTGC	0.642000													3	26					0.004672	0.00487454	0.115264	1	0
KDM3A	55818	broad.mit.edu	37	2	86678331	86678331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:86678331A>G	ENST00000409556.1	+	5	813	c.448A>G	c.(448-450)Ata>Gta	p.I150V	KDM3A_ENST00000542128.1_Missense_Mutation_p.I98V|KDM3A_ENST00000312912.5_Missense_Mutation_p.I150V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I150V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	150					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.I150V(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTTGAAGCCTATACAGGTAAA	0.363000													7	53					0	0	0.278610	0	0
IRF3	3661	broad.mit.edu	37	19	50163052	50163052	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:50163052G>C	ENST00000600911.1	-	6	1413	c.1021C>G	c.(1021-1023)Ccg>Gcg	p.P341A	IRF3_ENST00000600022.1_Silent_p.A106A|IRF3_ENST00000599223.1_Silent_p.A252A|IRF3_ENST00000597198.1_Silent_p.A379A|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000599144.1_Silent_p.A233A|IRF3_ENST00000601291.1_Missense_Mutation_p.P385A|IRF3_ENST00000593922.1_Silent_p.A233A|IRF3_ENST00000596765.1_Silent_p.A106A|IRF3_ENST00000377135.4_Silent_p.A252A|IRF3_ENST00000596822.1_Missense_Mutation_p.P68A|IRF3_ENST00000377139.3_Silent_p.A379A|IRF3_ENST00000309877.7_Silent_p.A379A|IRF3_ENST00000598808.1_Silent_p.A233A			Q14653	IRF3_HUMAN	interferon regulatory factor 3	0	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A379A(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCCTACCCGGGCCATTTCTA	0.607000													3	23					0	0	0.150653	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044273	90044273	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:90044273C>A	ENST00000462693.1	+	0	224																											CAGCAGAGGCCAGGCCAGCCT	0.537000													51	319					2.02796e-37	3.40508e-37	0.870114	1	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													5	193					0	0	0.592651	0	0
HMCN1	83872	broad.mit.edu	37	1	185892747	185892747	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:185892747A>G	ENST00000271588.4	+	8	1476	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q416R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	416					response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q416R(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACCTCTTCCAGAGAGTATCA	0.358000													37	95					0	0	0.834066	0	0
CADPS	8618	broad.mit.edu	37	3	62751567	62751567	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:62751567G>T	ENST00000383710.4	-	2	883	c.534C>A	c.(532-534)aaC>aaA	p.N178K	CADPS_ENST00000357948.3_Missense_Mutation_p.N178K|CADPS_ENST00000283269.9_Missense_Mutation_p.N178K|CADPS_ENST00000490353.2_Missense_Mutation_p.N178K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	178					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.N178K(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCTGCACAGCGTTCATGAAGG	0.517000													71	335					2.13026e-44	3.7271e-44	0.870114	1	0
TXNDC12	51060	broad.mit.edu	37	1	52486661	52486661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:52486661G>A	ENST00000371626.4	-	7	1537	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	0	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.Q155*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGCCTTTCCTGAGCTTCCTTC	0.383000													46	310					0	0	0.870114	0	0
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98802742C>T	ENST00000266058.4	-	20	2325	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G694R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	694	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.G694R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612000													17	39					0	0	0.520397	0	0
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547000													12	60					6.31663e-08	7.33216e-08	0.479597	1	0
MIR381HG	378881	broad.mit.edu	37	14	101515025	101515025	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:101515025G>T	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							ttgttaaaaagcagattctga	0.413000													7	20					0.000157383	0.000171994	0.278610	1	0
RASSF1	11186	broad.mit.edu	37	3	50368057	50368057	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:50368057G>A	ENST00000359365.4	-	6	1084	c.978C>T	c.(976-978)tgC>tgT	p.C326C	RASSF1_ENST00000327761.3_Silent_p.C256C|RASSF1_ENST00000395126.3_Silent_p.C175C|RASSF1_ENST00000357043.2_Silent_p.C330C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	330	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	p.C256C(2)|p.C330C(2)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTTCTGGCGGCAATAGGAGT	0.612000													12	22					0	0	0.520397	0	0
PRDM5	11107	broad.mit.edu	37	4	121631535	121631535	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:121631535C>T	ENST00000264808.3	-	15	1897	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_Missense_Mutation_p.G493D|PRDM5_ENST00000428209.2_Missense_Mutation_p.A522T	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	553					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.A553T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGAAGGCCTTGCTGCAC	0.483000													60	208					0	0	0.870114	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574545	11574545	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:11574545G>A	ENST00000294484.6	+	4	1553	c.1415G>A	c.(1414-1416)tGc>tAc	p.C472Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C472Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	472	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.C689Y(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCAGCAGCTGCATTGCTGCC	0.582000													4	81					0	0	0.150653	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214101	11214101	+	Missense_Mutation	SNP	C	C	T	rs147671448	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:11214101C>T	ENST00000533467.1	-	1	792	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	265					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	p.E265K(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAATAGCTTCGCAGAACATG	0.418000													17	663					0	0	0.575678	0	0
TEX13B	56156	broad.mit.edu	37	X	107225113	107225113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:107225113T>A	ENST00000302917.1	-	2	337	c.245A>T	c.(244-246)cAg>cTg	p.Q82L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	82								p.Q82L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TAACTGCCCCTGCCTGTGGGC	0.617000													48	71					0	0	0.870114	0	0
STARD13	90627	broad.mit.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000399365.3_Missense_Mutation_p.R162L|STARD13_ENST00000255486.4_Missense_Mutation_p.R272L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542000													17	189					7.07596e-05	7.78787e-05	0.539581	1	0
MYO1D	4642	broad.mit.edu	37	17	31105502	31105502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:31105502C>A	ENST00000318217.5	-	3	698	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	MYO1D_ENST00000583621.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000394649.4_Nonsense_Mutation_p.E44*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	132	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.E132*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTTACCTTTCAACCTCTGCT	0.478000													44	111					3.28156e-27	5.09158e-27	0.870114	1	0
BEND2	139105	broad.mit.edu	37	X	18209221	18209221	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:18209221G>T	ENST00000380033.4	-	8	1320	c.1188C>A	c.(1186-1188)ggC>ggA	p.G396G	BEND2_ENST00000380030.3_Silent_p.G305G	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	396								p.G396G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCATTTGTGGGCCAGATTCTG	0.378000													82	131					3.47606e-37	5.82751e-37	0.870114	1	0
COL5A1	1289	broad.mit.edu	37	9	137658860	137658860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137658860G>T	ENST00000371817.3	+	23	2562	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	716	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E716D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGGAGAGCCTGGCCCCC	0.652000													3	4					0.004672	0.00487454	0.115264	1	0
MEPE	56955	broad.mit.edu	37	4	88767161	88767161	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:88767161G>C	ENST00000497649.2	+	6	1447	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	MEPE_ENST00000560249.1_Missense_Mutation_p.E268Q|MEPE_ENST00000361056.3_Missense_Mutation_p.E381Q|MEPE_ENST00000540395.1_Missense_Mutation_p.E268Q|MEPE_ENST00000424957.3_Missense_Mutation_p.E381Q|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.E412Q			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	381					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.E381Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACCCTCAAAAGAGAAAAGAAA	0.443000													17	93					0	0	0.539581	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	89					0	0	0.361761	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506336	178506336	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:178506336A>T	ENST00000315475.6	+	5	1209	c.903A>T	c.(901-903)cgA>cgT	p.R301R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301R(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCGTATCGATGTAGGGAAT	0.418000													27	245					0	0	0.729181	0	0
VPS35	55737	broad.mit.edu	37	16	46715307	46715307	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:46715307C>G	ENST00000299138.7	-	4	363	c.305G>C	c.(304-306)gGa>gCa	p.G102A		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	102					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.G102A(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATAATGTTTCCAGCATACTG	0.378000													31	140					0	0	0.804634	0	0
FHL5	9457	broad.mit.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97063550G>T	ENST00000326771.2	+	7	1137	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	FHL5_ENST00000541107.1_Missense_Mutation_p.G253W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	253	LIM zinc-binding 4.					nucleus	zinc ion binding	p.G253W(2)|p.G253R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTTTAACTGCGGGAAATGCTC	0.458000													39	96					7.70917e-36	1.27661e-35	0.870114	1	0
SEPT14	346288	broad.mit.edu	37	7	55929665	55929665	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:55929665G>T	ENST00000388975.3	-	2	141	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	9					cell cycle|cell division	septin complex	GTP binding|protein binding	p.P9T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGTGTGGGCATAGCCATT	0.284000													3	29					0.00024832	0.000270011	0.150653	1	0
SH3GL3	6457	broad.mit.edu	37	15	84237394	84237394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:84237394G>T	ENST00000324537.5	+	7	817	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	SH3GL3_ENST00000427482.2_Missense_Mutation_p.G101W|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G109W|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G101W			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	101	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G109W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTGAAATACGGGAAGGAGCT	0.527000													41	103					3.39706e-21	4.95824e-21	0.870114	1	0
ZNF680	340252	broad.mit.edu	37	7	63982636	63982636	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:63982636A>G	ENST00000309683.6	-	4	647	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F166L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAATTTGAAAATTTATGAAAG	0.299000													5	71					0	0	0.184627	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175884	40175884	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40175884C>T	ENST00000307641.5	+	4	1170	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NKIRAS2_ENST00000316082.4_Silent_p.N221N|NKIRAS2_ENST00000449471.4_Silent_p.N127N|NKIRAS2_ENST00000393881.3_Silent_p.N183N|NKIRAS2_ENST00000393885.4_Silent_p.N183N|NKIRAS2_ENST00000393880.1_Silent_p.N183N|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393884.2_Silent_p.N181N|NKIRAS2_ENST00000479407.1_3'UTR	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	183	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	p.N183N(2)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCCGGAAGAACAAGGGCAGCG	0.607000													12	27					0	0	0.500413	0	0
SCN1A	6323	broad.mit.edu	37	2	166896013	166896013	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:166896013C>A	ENST00000423058.2	-	14	2526	c.2509G>T	c.(2509-2511)Ggt>Tgt	p.G837C	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G809C|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.G837C|SCN1A_ENST00000375405.3_Missense_Mutation_p.G826C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	837						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G837C(2)|p.G826C(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAATAAAACCGTCAAAGATA	0.363000													19	88					7.41877e-09	8.82916e-09	0.608945	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791250	50791250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:50791250C>A	ENST00000263046.4	+	3	405	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P71Q|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	71	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P71Q(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCCTACTTCCCACCCCCCTAC	0.682000													6	8					0.0381472	0.0389382	0.278610	1	0
PTPRD	5789	broad.mit.edu	37	9	8460541	8460541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:8460541G>T	ENST00000381196.4	-	30	4288	c.3745C>A	c.(3745-3747)Ccc>Acc	p.P1249T	PTPRD_ENST00000360074.4_Missense_Mutation_p.P1236T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P835T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P828T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P838T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P828T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P835T|PTPRD_ENST00000486161.1_Missense_Mutation_p.P838T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1227T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1249T|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1249T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1249T(4)|p.P720T(2)|p.P838T(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACACCACGGGGTCGGAGTAA	0.433000										TSP Lung(15;0.13)			37	389					1.47197e-15	1.97784e-15	0.834066	1	0
SOX14	8403	broad.mit.edu	37	3	137483858	137483858	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:137483858C>A	ENST00000306087.1	+	1	280	c.232C>A	c.(232-234)Cga>Aga	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.R78R(2)		large_intestine(2)|lung(12)	14						CTACAAGTACCGACCTCGGCG	0.612000													11	88					6.53275e-17	9.0242e-17	0.457914	1	0
LELP1	149018	broad.mit.edu	37	1	153177368	153177368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:153177368C>A	ENST00000368747.1	+	2	295	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	62	Cys/Pro-rich.							p.P62H(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTGCCCCTCGCAGTCT	0.592000													17	237					1.48734e-19	2.12505e-19	0.864702	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160273941	160273941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:160273941G>T	ENST00000264431.4	+	21	3906	c.3487G>T	c.(3487-3489)Gtg>Ttg	p.V1163L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1163	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.V1151L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTTGACTCAGTGCCAGTCTC	0.478000													33	149					2.48696e-23	3.72528e-23	0.779181	1	0
PHACTR3	116154	broad.mit.edu	37	20	58348406	58348406	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:58348406C>T	ENST00000371015.1	+	6	1291	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PHACTR3_ENST00000359926.3_Missense_Mutation_p.P272L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P234L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P234L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P234L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	275						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P275L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCTCCACACCCACGGGGTCT	0.662000													4	45					0	0	0.307466	0	0
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368000													6	160					0	0	0.361761	0	0
USH2A	7399	broad.mit.edu	37	1	216051129	216051129	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216051129C>T	ENST00000366943.2	-	43	9038	c.8652G>A	c.(8650-8652)caG>caA	p.Q2884Q	USH2A_ENST00000307340.3_Silent_p.Q2884Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2884	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q2884Q(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATAAAGCCACTGAGTTCCTG	0.383000										HNSCC(13;0.011)			131	390					0	0	0.870114	0	0
MEP1A	4224	broad.mit.edu	37	6	46806811	46806811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:46806811G>T	ENST00000230588.4	+	14	2188	c.2179G>T	c.(2179-2181)Gct>Tct	p.A727S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	727					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A727S(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGAGGCACGGCTGGCGTGAT	0.602000													48	178					1.11015e-26	1.72002e-26	0.870114	1	0
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248059311C>G	ENST00000537741.1	+	3	680	c.423C>G	c.(421-423)tgC>tgG	p.C141W	OR2W3_ENST00000360358.3_Missense_Mutation_p.C141W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141W(2)|p.C141*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGCTCTGCCGGGGCTTGG	0.627000													27	104					0	0	0.681144	0	0
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:25835674G>T	ENST00000280701.3	+	3	1168	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	OXSM_ENST00000420173.2_Missense_Mutation_p.A274S	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453000													33	96					4.14481e-20	5.95335e-20	0.819951	1	0
TAS1R1	80835	broad.mit.edu	37	1	6639557	6639557	+	Nonsense_Mutation	SNP	C	C	A	rs145637880	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:6639557C>A	ENST00000333172.6	+	6	2632	c.2439C>A	c.(2437-2439)taC>taA	p.Y813*	TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Y559*|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	813					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.Y813*(2)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTAAGTGCTACGTGATCCTCT	0.617000													5	28					0.014758	0.0152218	0.184627	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51961521	51961521	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51961521G>T	ENST00000321424.3	-	1	187	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L41M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L41M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	41	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L41M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACACACAGGCCCTCCTGC	0.597000													37	136					2.24893e-16	3.07913e-16	0.847076	1	0
OR6C6	283365	broad.mit.edu	37	12	55688351	55688351	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55688351G>T	ENST00000358433.2	-	1	665	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T222T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTTCAGAATGGTCTTAATAA	0.398000													8	391					1.12685e-05	1.26333e-05	0.307466	1	0
SMOC1	64093	broad.mit.edu	37	14	70490078	70490078	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70490078G>T	ENST00000381280.4	+	11	1458	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	SMOC1_ENST00000361956.3_Missense_Mutation_p.R402L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	402	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R402L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAATGTGCCCGGCGTTTCACC	0.527000													95	328					1.14165e-66	2.16534e-66	0.870114	1	0
TEX2	55852	broad.mit.edu	37	17	62272302	62272302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:62272302C>A	ENST00000258991.3	-	3	1882	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	TEX2_ENST00000583097.1_Nonsense_Mutation_p.E600*|TEX2_ENST00000584379.1_Nonsense_Mutation_p.E600*			Q8IWB9	TEX2_HUMAN	testis expressed 2	600					signal transduction|sphingolipid metabolic process	integral to membrane		p.E600*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAGGTGACCTCTGGCTTGGGT	0.443000													42	114					1.56989e-16	2.15761e-16	0.870114	1	0
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:71114727G>C	ENST00000304954.3	+	4	186	c.100G>C	c.(100-102)Gat>Cat	p.D34H		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	34						extracellular region	protein binding	p.D34H(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATGAGAATGATGAAAGACC	0.308000													31	157					0	0	0.779181	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816575	80816575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:80816575G>T	ENST00000466387.1	+	19	2878	c.2154G>T	c.(2152-2154)atG>atT	p.M718I	AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M718I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M752I|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M397I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M718I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	718					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.M718I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAAGCAGATGTGTATGATCA	0.458000													106	408					3.6033e-41	6.15516e-41	0.870114	1	0
RGS22	26166	broad.mit.edu	37	8	101051202	101051202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:101051202T>C	ENST00000360863.6	-	14	2317	c.2123A>G	c.(2122-2124)tAc>tGc	p.Y708C	RGS22_ENST00000523287.1_Missense_Mutation_p.Y527C|RGS22_ENST00000523437.1_Missense_Mutation_p.Y696C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	708					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.Y708C(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTTTCTTGGTAGAAAAGCTG	0.358000													26	194					0	0	0.729181	0	0
LONRF3	79836	broad.mit.edu	37	X	118147138	118147138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:118147138G>T	ENST00000365713.2	+	8	1988	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	LONRF3_ENST00000371628.3_Missense_Mutation_p.D650Y|LONRF3_ENST00000304778.7_Missense_Mutation_p.D609Y|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.D394Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	650	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D609Y(2)|p.D650Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAACACAGCCGACATTGAATA	0.488000													25	46					1.55811e-20	2.26198e-20	0.729181	1	0
FOXD4L1	200350	broad.mit.edu	37	2	114257955	114257955	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:114257955A>T	ENST00000306507.5	+	1	1295	c.1122A>T	c.(1120-1122)ggA>ggT	p.G374G		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	374					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G374G(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATCAGGAGGAGGACTGCGCC	0.687000													4	49					0	0	0.150653	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974501	129974501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:129974501G>T	ENST00000259351.5	+	15	1606	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	RALGPS1_ENST00000373434.1_Missense_Mutation_p.G405W|RALGPS1_ENST00000424082.2_Missense_Mutation_p.G405W	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	447	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G447W(2)|p.G405W(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAAGGAAGGGCGGAAGCC	0.592000													3	28					0.115264	0.116555	0.115264	1	0
NDST3	9348	broad.mit.edu	37	4	119158234	119158234	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119158234C>A	ENST00000296499.5	+	10	2380	c.1977C>A	c.(1975-1977)gtC>gtA	p.V659V	NDST3_ENST00000433996.2_3'UTR	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	659	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.V659V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATCTAATGTCACTACCGACT	0.393000													11	70					0.411799	0.415249	0.411799	1	0
RANGAP1	5905	broad.mit.edu	37	22	41657531	41657531	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:41657531C>A	ENST00000455915.2	-	5	2003	c.534G>T	c.(532-534)aaG>aaT	p.K178N	RANGAP1_ENST00000405486.1_Missense_Mutation_p.K178N|RANGAP1_ENST00000356244.3_Missense_Mutation_p.K178N|RANGAP1_ENST00000407260.4_Intron			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.K178N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCAGAGGCTTGCCTTGGG	0.582000													9	24					0.00244969	0.00258579	0.457914	1	0
BMP7	655	broad.mit.edu	37	20	55748235	55748235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:55748235C>A	ENST00000450594.2	-	6	1673	c.1167G>T	c.(1165-1167)tgG>tgT	p.W389C	BMP7_ENST00000395863.3_Intron|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_Intron			P18075	BMP7_HUMAN	bone morphogenetic protein 7	247					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TGACCACACCCCAAGATGGCG	0.617000													14	56					1.00905e-13	1.31504e-13	0.575678	1	0
COBL	23242	broad.mit.edu	37	7	51111277	51111277	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:51111277C>A	ENST00000395542.2	-	10	1639	c.1455G>T	c.(1453-1455)acG>acT	p.T485T	COBL_ENST00000265136.7_Silent_p.T403T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	403								p.T403T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGTCCTCGGTCGTGTCCTCCG	0.607000													51	95					2.41709e-19	3.44435e-19	0.870114	1	0
ERN2	10595	broad.mit.edu	37	16	23713521	23713521	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23713521T>C	ENST00000256797.4	-	11	1467	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	ERN2_ENST00000457008.2_Silent_p.A385A	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	385					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.A433A(2)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTCTTGTCTCTGCAGTTCCAC	0.622000													8	70					0	0	0.278610	0	0
AADACL2	344752	broad.mit.edu	37	3	151474962	151474962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151474962G>A	ENST00000356517.3	+	5	895	c.786G>A	c.(784-786)tgG>tgA	p.W262*	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	262						extracellular region|integral to membrane	carboxylesterase activity	p.W262*(2)|p.W240*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTTCCCTGGGCAATGAGAA	0.413000													117	295					0	0	0.870114	0	0
GPR63	81491	broad.mit.edu	37	6	97247592	97247592	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97247592C>A	ENST00000229955.3	-	2	361	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	GPR63_ENST00000417980.1_Missense_Mutation_p.V6L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	6						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V6L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCAGTCAACACTGCCGAGAAG	0.463000													112	366					1.46217e-58	2.70226e-58	0.870114	1	0
NID1	4811	broad.mit.edu	37	1	236195859	236195859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:236195859G>T	ENST00000264187.6	-	6	1461	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NID1_ENST00000366595.3_Missense_Mutation_p.S460Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	460	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S460Y(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TACTACGTAAGAGTGGAGGTC	0.552000													27	63					1.13719e-10	1.39793e-10	0.729181	1	0
DAB2	1601	broad.mit.edu	37	5	39376907	39376907	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:39376907C>A	ENST00000545653.1	-	11	2449	c.1919G>T	c.(1918-1920)cGg>cTg	p.R640L	DAB2_ENST00000509337.1_Missense_Mutation_p.R640L|DAB2_ENST00000339788.6_Missense_Mutation_p.R443L|DAB2_ENST00000320816.6_Missense_Mutation_p.R661L	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	661					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.R661L(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGGTGGCTGCCGCAGTTGGAA	0.512000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	65					0.014758	0.0152218	0.184627	1	0
ZBED4	9889	broad.mit.edu	37	22	50277734	50277734	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:50277734G>A	ENST00000216268.4	+	2	901	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	142						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.E142K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGAAGGAGTTCAGCAG	0.507000													31	69					0	0	0.788014	0	0
KIAA1468	57614	broad.mit.edu	37	18	59942667	59942667	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:59942667T>A	ENST00000256858.6	+	23	3278	c.3030T>A	c.(3028-3030)acT>acA	p.T1010T	KIAA1468_ENST00000398130.2_Silent_p.T976T			Q9P260	K1468_HUMAN	KIAA1468	976							binding	p.T976T(2)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGTCCATACTTCAGCACTCG	0.363000													39	102					0	0	0.870114	0	0
CAMK4	814	broad.mit.edu	37	5	110730473	110730473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110730473C>A	ENST00000282356.4	+	5	850	c.452C>A	c.(451-453)gCa>gAa	p.A151E	CAMK4_ENST00000512453.1_Missense_Mutation_p.A151E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	151	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A151E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCCTGGAGGCAGTTGCTGTA	0.408000													77	265					1.49072e-33	2.43141e-33	0.870114	1	0
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:88057031C>A	ENST00000504921.2	-	4	1045	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	MEF2C_ENST00000514015.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000437473.2_Missense_Mutation_p.D125Y|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125Y			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453000										HNSCC(66;0.2)			53	326					4.60343e-24	6.97275e-24	0.870114	1	0
PTPRF	5792	broad.mit.edu	37	1	44084819	44084819	+	Missense_Mutation	SNP	G	G	A	rs70937045		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:44084819G>A	ENST00000359947.4	+	27	4932	c.4592G>A	c.(4591-4593)cGa>cAa	p.R1531Q	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R890Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1531Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1531	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R1521Q(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTCCTACGACGGGTCAAG	0.627000													7	29					0	0	0.248553	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814424	106814424	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:106814424A>G	ENST00000407775.2	+	8	2364	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H436R|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H573R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	705					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.H705R(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACATGGTCCACAAACAGTAT	0.517000													45	74					0	0	0.870114	0	0
USP8	9101	broad.mit.edu	37	15	50741619	50741619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:50741619G>T	ENST00000433963.1	+	5	772	c.272G>T	c.(271-273)gGa>gTa	p.G91V	USP8_ENST00000396444.3_Missense_Mutation_p.G91V|USP8_ENST00000307179.4_Missense_Mutation_p.G91V|USP8_ENST00000425032.3_Intron	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	91	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G91V(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCAATACTTGGACCTGGAAAC	0.303000													8	38					2.61681e-11	3.26123e-11	0.457914	1	0
STXBP4	252983	broad.mit.edu	37	17	53068212	53068212	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:53068212T>C	ENST00000376352.2	+	4	281	c.74T>C	c.(73-75)aTt>aCt	p.I25T	STXBP4_ENST00000405898.1_Missense_Mutation_p.I25T|STXBP4_ENST00000398391.2_Intron|STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000434978.2_Missense_Mutation_p.I25T	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	25	PDZ.					cytoplasm	calcium ion binding	p.I25T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATGATTACAATTGCCAAGGAA	0.393000													17	313					0	0	0.592651	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945446	48945446	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:48945446T>A	ENST00000263269.3	+	12	2568	c.2480T>A	c.(2479-2481)aTc>aAc	p.I827N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	827						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.I827N(2)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTCTCTGGGATCTGCCACAAT	0.567000													17	55					0	0	0.575678	0	0
OTOF	9381	broad.mit.edu	37	2	26696880	26696880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:26696880C>A	ENST00000272371.2	-	27	3513	c.3387G>T	c.(3385-3387)gtG>gtT	p.V1129V	OTOF_ENST00000403946.3_Silent_p.V1129V|OTOF_ENST00000339598.3_Silent_p.V382V|OTOF_ENST00000402415.3_Silent_p.V439V|OTOF_ENST00000338581.6_Silent_p.V382V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1129					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.V439V(2)|p.V1129V(2)|p.V382V(2)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGCTGAGCACGGGCCGGA	0.642000													2	5					0.115264	0.116555	0.115264	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854254	178854254	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:178854254G>C	ENST00000367635.3	+	12	1286	c.948G>C	c.(946-948)gtG>gtC	p.V316V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Silent_p.V316V|RALGPS2_ENST00000324778.4_Silent_p.V281V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	316					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAAAAGTGTGGCAGCTGAAG	0.448000													34	64					0	0	0.853193	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172847	207172847	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:207172847G>A	ENST00000374423.3	+	5	3981	c.3595G>A	c.(3595-3597)Gta>Ata	p.V1199I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1199							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGGTTCTGAAGTAAGTTTTGA	0.418000													5	174					0	0	0.278610	0	0
ESR2	2100	broad.mit.edu	37	14	64699947	64699947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:64699947G>A	ENST00000341099.4	-	9	1918	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ESR2_ENST00000555278.1_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.R410C|ESR2_ENST00000542956.1_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	501	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R501C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTGCACCCGCGAAGCACGTGG	0.562000													10	393					0	0	0.387290	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136969	108136969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:108136969G>T	ENST00000374720.3	+	13	1832	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	SLC44A1_ENST00000374723.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V321L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.V529L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	529						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.V529L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTTTGCGAGTGGCTACCAT	0.393000													109	310					7.82945e-61	1.46195e-60	0.870114	1	0
GABRB1	2560	broad.mit.edu	37	4	47427876	47427876	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:47427876G>T	ENST00000295454.3	+	9	1558	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	GABRB1_ENST00000538619.1_Silent_p.G352G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	422					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G422G(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCGGCACGGGGTACCCAGCA	0.627000													12	65					2.61681e-11	3.26123e-11	0.457914	1	0
POLQ	10721	broad.mit.edu	37	3	121209249	121209249	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:121209249C>A	ENST00000264233.5	-	16	2657	c.2529G>T	c.(2527-2529)cgG>cgT	p.R843R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	843					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R978R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCACTGCCTTCCGGGCACTAC	0.443000								DNA polymerases (catalytic subunits)					65	261					2.73218e-42	4.71171e-42	0.870114	1	0
CSMD1	64478	broad.mit.edu	37	8	2967787	2967787	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:2967787C>A	ENST00000520002.1	-	44	7059	c.6504G>T	c.(6502-6504)ccG>ccT	p.P2168P	CSMD1_ENST00000602723.1_Silent_p.P2168P|CSMD1_ENST00000542608.1_Silent_p.P2167P|CSMD1_ENST00000602557.1_Silent_p.P2168P|CSMD1_ENST00000537824.1_Silent_p.P2167P|CSMD1_ENST00000400186.3_Silent_p.P2168P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2168	CUB 13.					integral to membrane		p.P2167P(2)|p.P1896P(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCAGGATCGGATACTCAT	0.502000													8	23					3.07112e-06	3.4791e-06	0.387290	1	0
C22orf42	150297	broad.mit.edu	37	22	32550243	32550243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:32550243G>T	ENST00000382097.3	-	2	367	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	99								p.L99I(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATATTTTCTAGAGGCCAAATC	0.378000													23	76					3.93418e-24	5.96739e-24	0.796494	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951975	119951975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119951975G>T	ENST00000307142.4	+	4	2241	c.2045G>T	c.(2044-2046)gGa>gTa	p.G682V	SYNPO2_ENST00000434046.2_Missense_Mutation_p.G682V|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G682V|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	682						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.G682V(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAAGAACAGGAATATTGCAG	0.498000													9	113					7.48243e-07	8.56604e-07	0.335167	1	0
CNGB3	54714	broad.mit.edu	37	8	87645122	87645122	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:87645122C>A	ENST00000320005.5	-	11	1226		c.e11-1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCAGATACCTGTGAAAACA	0.303000													47	114					5.7761e-15	7.69436e-15	0.870114	1	0
GRM8	2918	broad.mit.edu	37	7	126173694	126173694	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173694G>T	ENST00000339582.2	-	9	2550	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	GRM8_ENST00000358373.3_Missense_Mutation_p.S581Y|GRM8_ENST00000444921.2_Missense_Mutation_p.S581Y|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	581					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S581Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCCAGGGAGAATGCCACTC	0.512000										HNSCC(24;0.065)			13	136					2.61681e-11	3.26123e-11	0.457914	1	0
CDH12	1010	broad.mit.edu	37	5	21765146	21765146	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:21765146G>A	ENST00000382254.1	-	12	2542	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	CDH12_ENST00000522262.1_Missense_Mutation_p.P446S|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.P486S|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	486	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P486S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTCTGGAGGAAATTCATTT	0.338000										HNSCC(59;0.17)			14	319					0	0	0.520397	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337510	22337510	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22337510C>A	ENST00000390436.2	+	0	324																											AGAGACCCAACCTGAAGACTC	0.493000													101	260					1.2656e-43	2.19655e-43	0.870114	1	0
OR2B11	127623	broad.mit.edu	37	1	247614463	247614463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247614463C>A	ENST00000318749.6	-	1	845	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q274H(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAAATTTGCCCTGCTCTTGGG	0.493000													94	339					1.21964e-59	2.26176e-59	0.870114	1	0
GPR132	29933	broad.mit.edu	37	14	105518393	105518393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105518393G>T	ENST00000329797.3	-	4	992	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.G27G|GPR132_ENST00000392585.2_Silent_p.G18G	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	27					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G27G(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGGCGGAGAGGCCCAGGGAGG	0.637000													11	22					3.27435e-08	3.82538e-08	0.457914	1	0
DLL3	10683	broad.mit.edu	37	19	39989617	39989617	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:39989617G>T	ENST00000205143.4	+	1	10	c.3G>T	c.(1-3)atG>atT	p.M1I	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Start_Codon_SNP_p.M1I	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	1					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.M1I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAAGGCCATGGTCTCCCCAC	0.642000													5	28					0.000602214	0.000647665	0.184627	1	0
KRT5	3852	broad.mit.edu	37	12	52910579	52910579	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:52910579A>G	ENST00000252242.4	-	7	1671	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	427	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.D427D(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCCTGGCATCCTTGAGGG	0.617000													108	146					0	0	0.870114	0	0
JMY	133746	broad.mit.edu	37	5	78610543	78610543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:78610543G>T	ENST00000396137.4	+	9	2990	c.2528G>T	c.(2527-2529)aGa>aTa	p.R843I	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	843					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.R489I(2)|p.R843I(2)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GATCTGCCTAGAAAGGAGGGG	0.592000													22	118					1.32181e-22	1.97179e-22	0.717897	1	0
RYR2	6262	broad.mit.edu	37	1	237798280	237798280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237798280G>A	ENST00000366574.2	+	44	7097	c.6780G>A	c.(6778-6780)ccG>ccA	p.P2260P	RYR2_ENST00000360064.6_Silent_p.P2258P|RYR2_ENST00000542537.1_Silent_p.P2244P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2260	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P2258P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGTGAGCCGGATCTAGAAA	0.423000													6	69					0	0	0.248553	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951377	130951377	+	Missense_Mutation	SNP	C	C	G	rs148936100	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:130951377C>G	ENST00000312988.7	-	4	1138	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	346					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGTCGGGCACCAATCCACAA	0.542000													3	79					0	0	0.115264	0	0
ATP2B3	492	broad.mit.edu	37	X	152814180	152814180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:152814180G>A	ENST00000370186.1	+	8	1490	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*	ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.W388*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	402					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.W402*(6)|p.W388*(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGACATGGCTGGCAGAGT	0.562000													7	50					0	0	0.335167	0	0
USP54	159195	broad.mit.edu	37	10	75290091	75290091	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:75290091C>T	ENST00000339859.4	-	13	1738	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Silent_p.R396R|USP54_ENST00000408019.1_Silent_p.R546R|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.R546R			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	546					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R546R(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGGCAGGGTCCTAGGAGGTT	0.507000													20	95					0	0	0.624587	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301896	139301896	+	Silent	SNP	G	G	A	rs3841201		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:139301896G>A	ENST00000298537.7	-	4	662	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	SDCCAG3_ENST00000371725.3_Silent_p.L101L|SDCCAG3_ENST00000357365.3_Silent_p.L174L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	174						cytoplasm		p.L174L(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCTCATCCAGGAGGTCACCA	0.647000													4	3					0	0	0.184627	0	0
APOB	338	broad.mit.edu	37	2	21239499	21239499	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:21239499G>T	ENST00000233242.1	-	21	3271	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1048					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1048T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAATGTCATGGTAGCCTCAG	0.468000													29	250					2.48696e-23	3.72528e-23	0.779181	1	0
GANAB	23193	broad.mit.edu	37	11	62398602	62398602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62398602C>A	ENST00000346178.4	-	11	1131	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	GANAB_ENST00000540933.1_Missense_Mutation_p.Q253H|GANAB_ENST00000534779.1_Missense_Mutation_p.Q258H|GANAB_ENST00000356638.3_Missense_Mutation_p.Q350H	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	350					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.Q350H(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAACATCTGTCTGTGGGGTCT	0.547000													110	323					1.22493e-33	2.0009e-33	0.870114	1	0
FCRLA	84824	broad.mit.edu	37	1	161680698	161680698	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:161680698C>A	ENST00000540926.1	+	3	539	c.246C>A	c.(244-246)tcC>tcA	p.S82S	FCRLA_ENST00000236938.6_Silent_p.S93S|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Silent_p.S93S|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367949.2_Silent_p.S93S|FCRLA_ENST00000367950.1_Silent_p.S53S|FCRLA_ENST00000367959.2_Silent_p.S99S|FCRLA_ENST00000349527.4_Silent_p.S76S|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367953.3_Silent_p.S82S|FCRLA_ENST00000309691.6_Silent_p.S76S			Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGATTGTGTCCTATGGTGAGG	0.552000													43	117					3.50607e-19	4.9765e-19	0.870114	1	0
NNMT	4837	broad.mit.edu	37	11	114183054	114183054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114183054G>T	ENST00000535401.1	+	5	914	c.650G>T	c.(649-651)gGc>gTc	p.G217V	NNMT_ENST00000545255.1_Missense_Mutation_p.G22V|NNMT_ENST00000299964.3_Missense_Mutation_p.G217V|NNMT_ENST00000542647.1_Missense_Mutation_p.G22V|NNMT_ENST00000541754.1_Missense_Mutation_p.G22V|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	217					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.G217V(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTCCCCCTGGGCCGGGAGGCA	0.547000													8	72					0.000673444	0.000721404	0.361761	1	0
BLOC1S4	55330	broad.mit.edu	37	4	6718442	6718442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:6718442C>T	ENST00000320776.3	+	1	601	c.506C>T	c.(505-507)gCg>gTg	p.A169V		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino									p.A169V(2)									TTCCCCAGGGCGTTCAAGAAG	0.657000													3	26					0	0	0.150653	0	0
ABCA10	10349	broad.mit.edu	37	17	67151277	67151277	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:67151277C>A	ENST00000269081.4	-	31	4486	c.3576_splice	c.e31-1	p.E1193_splice	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1193					transport	integral to membrane	ATP binding|ATPase activity	p.E1193*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGACTGGTTCCTGGAAAACA	0.323000													32	74					1.61004e-24	2.45242e-24	0.870114	1	0
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:154490316G>T	ENST00000369454.3	-	2	714	c.414C>A	c.(412-414)gcC>gcA	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488000													73	110					3.80779e-57	6.96595e-57	0.870114	1	0
AGO3	192669	broad.mit.edu	37	1	36437711	36437711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:36437711G>T	ENST00000373191.4	+	4	748	c.399G>T	c.(397-399)tgG>tgT	p.W133C	AGO3_ENST00000324350.5_Missense_Mutation_p.W133C|AGO3_ENST00000397828.2_Missense_Mutation_p.W133C|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3									p.W133C(2)									GGGTGAGTTGGCACCTACTGC	0.483000													30	184					9.78485e-24	1.47385e-23	0.769981	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691975	31691975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:31691975G>T	ENST00000360542.3	-	1	632	c.379C>A	c.(379-381)Ccg>Acg	p.P127T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	127						intermediate filament		p.P127T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGAGCAGCGGCCTCAGTGGA	0.537000													15	351					8.60227e-14	1.12651e-13	0.500413	1	0
PAQR9	344838	broad.mit.edu	37	3	142681802	142681802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:142681802G>T	ENST00000340634.3	-	1	376	c.377C>A	c.(376-378)gCg>gAg	p.A126E	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	126						integral to membrane	receptor activity	p.A126E(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACTCCCGACGCGTAGCACCA	0.652000													7	22					7.48243e-07	8.56604e-07	0.335167	1	0
ASB15	142685	broad.mit.edu	37	7	123257664	123257664	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:123257664C>A	ENST00000451558.1	+	9	845	c.324C>A	c.(322-324)acC>acA	p.T108T	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Silent_p.T108T|ASB15_ENST00000451215.1_Silent_p.T108T|ASB15_ENST00000540573.1_Silent_p.T108T|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Silent_p.T108T			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATTCAAGACCTGTGATGGAG	0.388000													78	222					2.72676e-27	4.24293e-27	0.870114	1	0
RICTOR	253260	broad.mit.edu	37	5	39021164	39021164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:39021164C>A	ENST00000357387.3	-	3	202	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G58C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	58					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G58C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCAGATGGCCTAGCTTTCTC	0.328000													63	480					1.45978e-39	2.47797e-39	0.870114	1	0
ZNF292	23036	broad.mit.edu	37	6	87966098	87966098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:87966098G>T	ENST00000369577.3	+	8	2794	c.2751G>T	c.(2749-2751)ttG>ttT	p.L917F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L912F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L917F(2)|p.L772F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACCATTGTCAAATGGTT	0.443000													60	167					2.36135e-34	3.88065e-34	0.870114	1	0
VCAN	1462	broad.mit.edu	37	5	82837202	82837202	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:82837202G>C	ENST00000265077.3	+	8	8945	c.8380G>C	c.(8380-8382)Gag>Cag	p.E2794Q	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E1807Q|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2794	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2794Q(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTGTAACAGAGGTGCCTGA	0.433000													25	358					0	0	0.750413	0	0
GARNL3	84253	broad.mit.edu	37	9	130101923	130101923	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130101923G>A	ENST00000373387.4	+	13	1380		c.e13-1		GARNL3_ENST00000314904.5_Splice_Site|GARNL3_ENST00000435213.2_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCTCTACTTAGGCTGAAAATA	0.438000													12	144					0	0	0.435327	0	0
SRGAP2	23380	broad.mit.edu	37	1	206611329	206611329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:206611329C>T	ENST00000414007.1	+	12	1229	c.1229C>T	c.(1228-1230)gCt>gTt	p.A410V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	550					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.A410V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GACCCCCTGGCTGGGGACCAG	0.542000													56	186					0	0	0.870114	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486483	76486483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:76486483C>A	ENST00000307431.8	+	9	1532	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTAGCACTGCCAGACTTCTC	0.428000													15	124					4.14922e-12	5.28659e-12	0.500413	1	0
SPEF2	79925	broad.mit.edu	37	5	35691149	35691149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:35691149G>T	ENST00000440995.2	+	11	1535	c.1535G>T	c.(1534-1536)gGa>gTa	p.G512V	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.G512V|SPEF2_ENST00000509059.1_Missense_Mutation_p.G512V			Q9C093	SPEF2_HUMAN	sperm flagellar 2	512					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.G512V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACATGGTTGGAGAGTGGGCC	0.338000													14	59					1.5739e-10	1.93039e-10	0.500413	1	0
HEATR5A	25938	broad.mit.edu	37	14	31778370	31778370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:31778370G>T	ENST00000543095.2	-	29	4644	c.4460C>A	c.(4459-4461)gCa>gAa	p.A1487E	HEATR5A_ENST00000439727.1_Missense_Mutation_p.A1194E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A1481E|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A1481E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1481							binding	p.A1481E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTAGTCTCTGCTGTGTAGAA	0.368000													42	159					3.68337e-26	5.67438e-26	0.870114	1	0
CAMTA1	23261	broad.mit.edu	37	1	7700548	7700548	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:7700548A>G	ENST00000303635.7	+	7	806	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N200S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.N200S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCTCCATCAACACCGACAAG	0.627000			T	WWTR1	epitheliod hemangioendothelioma								5	95					0	0	0.217242	0	0
FBN2	2201	broad.mit.edu	37	5	127648343	127648343	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:127648343C>T	ENST00000508053.1	-	43	5836	c.4862G>A	c.(4861-4863)tGc>tAc	p.C1621Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C1621Y			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.C1621Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGGGGGGCATGTCTCACA	0.512000													24	878					0	0	0.681144	0	0
FSIP2	401024	broad.mit.edu	37	2	186672293	186672293	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:186672293C>A	ENST00000343098.5	+	17	18527	c.18527C>A	c.(18526-18528)tCt>tAt	p.S6176Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6087Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.S785Y(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGGTTCAGTCTGTTTATAAT	0.333000													65	134					3.13765e-25	4.81997e-25	0.870114	1	0
CCDC136	64753	broad.mit.edu	37	7	128450286	128450286	+	Missense_Mutation	SNP	C	C	A	rs116868322	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128450286C>A	ENST00000297788.4	+	12	2261	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	632						integral to membrane	protein binding	p.Q632K(4)|p.Q748K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACAGAACCAAGACTGTGT	0.468000													30	25					2.47316e-13	3.21155e-13	0.779181	1	0
ACSL1	2180	broad.mit.edu	37	4	185697670	185697670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:185697670C>A	ENST00000515030.1	-	7	1049	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ACSL1_ENST00000504900.1_Missense_Mutation_p.G242W|ACSL1_ENST00000507295.1_Missense_Mutation_p.G208W|ACSL1_ENST00000504342.1_Missense_Mutation_p.G242W|ACSL1_ENST00000281455.2_Missense_Mutation_p.G242W|ACSL1_ENST00000454703.2_Missense_Mutation_p.G71W|ACSL1_ENST00000437665.3_Missense_Mutation_p.G71W|ACSL1_ENST00000513317.1_Missense_Mutation_p.G242W			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	242					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G242W(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTTCCACCCCACACCTCTGG	0.522000													25	103					7.01153e-11	8.67828e-11	0.717897	1	0
CHD5	26038	broad.mit.edu	37	1	6173020	6173020	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:6173020G>A	ENST00000262450.3	-	34	5050	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	CHD5_ENST00000378021.1_Silent_p.L508L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1651					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L1651L(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCAGCTCCAGCTTGTCCAGG	0.577000													3	31					0	0	0.115264	0	0
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:86838537C>A	ENST00000441037.2	+	16	2229	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R	AGBL1_ENST00000421325.2_Silent_p.R712R|AGBL1_ENST00000389298.3_Silent_p.R443R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468000													81	156					5.2429e-30	8.37472e-30	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	113988292	113988292	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113988292G>T	ENST00000297405.5	-	7	1360	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S332R|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.S372R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	372						integral to membrane|plasma membrane		p.S372R(2)|p.S332R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCAGGTGTGCTAGCAACAG	0.483000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	157					2.94398e-08	3.44685e-08	0.557998	1	0
TRIB2	28951	broad.mit.edu	37	2	12880889	12880889	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:12880889T>A	ENST00000155926.4	+	3	2420	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198K	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACGTCAACATGGAAGAGAAC	0.512000													49	180					0	0	0.870114	0	0
AGL	178	broad.mit.edu	37	1	100336081	100336081	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:100336081G>T	ENST00000294724.4	+	6	1268	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	AGL_ENST00000370161.2_Missense_Mutation_p.G248W|AGL_ENST00000361302.3_Missense_Mutation_p.G248W|AGL_ENST00000370165.3_Missense_Mutation_p.G264W|AGL_ENST00000361522.4_Missense_Mutation_p.G247W|AGL_ENST00000370163.3_Missense_Mutation_p.G264W|AGL_ENST00000361915.3_Missense_Mutation_p.G264W	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	264					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.G264W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTGCAGAAGGGAAATACAA	0.383000													35	123					1.41504e-22	2.10506e-22	0.859065	1	0
G2E3	55632	broad.mit.edu	37	14	31077153	31077153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:31077153G>T	ENST00000206595.6	+	12	1532	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	G2E3_ENST00000553504.1_Missense_Mutation_p.G490C|G2E3_ENST00000438909.2_Missense_Mutation_p.G414C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	460	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.G460C(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTAGTTCACGGTGGTCCTTC	0.348000													13	137					4.36969e-10	5.31131e-10	0.435327	1	0
KIAA1377	57562	broad.mit.edu	37	11	101786030	101786030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:101786030G>T	ENST00000263468.8	+	1	285	c.15G>T	c.(13-15)agG>agT	p.R5S	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	5							protein binding	p.R5S(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGGCGGGGAGGCCCGGAACCC	0.701000													13	11					7.07596e-05	7.78787e-05	0.539581	1	0
KAT6B	23522	broad.mit.edu	37	10	76736089	76736089	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:76736089G>T	ENST00000287239.4	+	8	2482		c.e8+1		KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B						histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.?(2)									CAGGATGATGGTAAGCAAAAG	0.473000													20	86					2.41591e-17	3.34582e-17	0.681144	1	0
TTLL4	9654	broad.mit.edu	37	2	219611895	219611895	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:219611895G>A	ENST00000392102.1	+	9	2484	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	TTLL4_ENST00000457313.1_Missense_Mutation_p.R550H|TTLL4_ENST00000442769.1_Intron|TTLL4_ENST00000258398.4_Missense_Mutation_p.R715H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	715	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.R715H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGCAGCAGCCGCCAAAAGTGG	0.542000													3	37					0	0	0.115264	0	0
STIM1	6786	broad.mit.edu	37	11	4104157	4104157	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4104157C>T	ENST00000300737.4	+	9	1752	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y	STIM1_ENST00000533977.1_Missense_Mutation_p.H222Y|STIM1_ENST00000527651.1_Missense_Mutation_p.H395Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	395					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.H395Y(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGCACCTTCCACGTGGCCCA	0.433000													74	230					0	0	0.870114	0	0
SYNE1	23345	broad.mit.edu	37	6	152763330	152763330	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:152763330G>T	ENST00000367255.5	-	31	4489	c.3888C>A	c.(3886-3888)atC>atA	p.I1296I	SYNE1_ENST00000448038.1_Silent_p.I1303I|SYNE1_ENST00000367248.3_Silent_p.I1286I|SYNE1_ENST00000423061.1_Silent_p.I1303I|SYNE1_ENST00000367253.4_Silent_p.I1296I|SYNE1_ENST00000265368.4_Silent_p.I1296I|SYNE1_ENST00000413186.2_Silent_p.I1296I|SYNE1_ENST00000341594.5_Silent_p.I1362I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I1296I(4)|p.I1303I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCTGCGCGATCTGCTGCT	0.557000										HNSCC(10;0.0054)			37	76					1.01817e-39	1.73377e-39	0.847076	1	0
LBP	3929	broad.mit.edu	37	20	36993396	36993396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:36993396C>A	ENST00000217407.2	+	8	1072	c.911C>A	c.(910-912)aCa>aAa	p.T304K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	304					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T304K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTCTCCATCACAGATGACATG	0.453000													27	199					2.81731e-10	3.44374e-10	0.750413	1	0
CNOT1	23019	broad.mit.edu	37	16	58616700	58616700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:58616700T>A	ENST00000317147.5	-	10	1373	c.1041A>T	c.(1039-1041)gaA>gaT	p.E347D	CNOT1_ENST00000569240.1_Missense_Mutation_p.E347D|CNOT1_ENST00000441024.2_Missense_Mutation_p.E347D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	347					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E347D(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTCACCAGTTCTTTAAGAA	0.383000													5	34					0	0	0.184627	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605956	13605956	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:13605956A>G	ENST00000040738.5	-	10	2703	c.2568T>C	c.(2566-2568)ggT>ggC	p.G856G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	856	Lys-rich.						DNA binding	p.G856G(2)									GTTGCTTGGAACCCAGAGAAT	0.368000													3	82					0	0	0.184627	0	0
LIPK	643414	broad.mit.edu	37	10	90499787	90499787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:90499787C>T	ENST00000404190.1	+	7	851	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	284					lipid catabolic process	extracellular region	hydrolase activity	p.A284V(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACAATCCTGCGGGAACATCT	0.423000													78	182					0	0	0.870114	0	0
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:78959150G>C	ENST00000370756.3	+	2	959	c.722G>C	c.(721-723)aGa>aCa	p.R241T	PTGFR_ENST00000370757.3_Missense_Mutation_p.R241T|PTGFR_ENST00000370758.1_Missense_Mutation_p.R241T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	241					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R241T(4)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423000													22	98					0	0	0.706142	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181997	140181997	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140181997C>T	ENST00000522353.2	+	1	1215	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y405Y	NM_018906.2	NP_061729.1												p.Y405Y(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATTACTACTCATTGGTGC	0.627000													52	129					0	0	0.870114	0	0
OR2C3	81472	broad.mit.edu	37	1	247695356	247695356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247695356C>A	ENST00000366487.3	-	2	819	c.458G>T	c.(457-459)gGt>gTt	p.G153V	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTGGTCAGACCCCCCAGCCA	0.562000													12	24					1.49906e-05	1.67197e-05	0.457914	1	0
FREM1	158326	broad.mit.edu	37	9	14784421	14784421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:14784421C>A	ENST00000380881.4	-	25	5207	c.4392G>T	c.(4390-4392)caG>caT	p.Q1464H	FREM1_ENST00000380880.3_Missense_Mutation_p.Q1463H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q1463H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1463					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q1464H(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAAACTGTCTGCCCCACTA	0.458000													52	137					1.4709e-25	2.26276e-25	0.870114	1	0
NLRP14	338323	broad.mit.edu	37	11	7092508	7092508	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:7092508A>T	ENST00000299481.4	+	12	3597	c.3251A>T	c.(3250-3252)gAa>gTa	p.E1084V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1084					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E1084V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCATAATGAAGAAGATGTG	0.363000													9	139					0	0	0.361761	0	0
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:21631013C>T	ENST00000328843.6	+	14	2516	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R829C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R829C(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAGTTGAGCGCACACAGAA	0.607000									Kartagener syndrome				28	161					0	0	0.750413	0	0
RPGR	6103	broad.mit.edu	37	X	38146246	38146246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:38146246C>A	ENST00000378505.2	-	15	2182	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L	RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	658	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.W669L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cTCATCTTGCCAGTGTTCTGC	0.532000													9	24					0.00829132	0.00861756	0.361761	1	0
ITIH2	3698	broad.mit.edu	37	10	7773794	7773794	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:7773794C>A	ENST00000358415.4	+	13	1648	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	ITIH2_ENST00000379587.4_Silent_p.S483S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	494					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S494S(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCAGGTCTCCACTCCATTGC	0.373000													54	303					6.05568e-20	8.68649e-20	0.870114	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768708	31768708	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:31768708T>G	ENST00000355459.2	+	1	317	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	102						intermediate filament		p.F102V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTCTAGGCTTTGGATCCAG	0.597000													5	67					0	0	0.248553	0	0
MUSK	4593	broad.mit.edu	37	9	113563158	113563158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:113563158C>A	ENST00000416899.2	+	13	2602	c.2476C>A	c.(2476-2478)Ctc>Atc	p.L826I	MUSK_ENST00000374448.4_Missense_Mutation_p.L834I|MUSK_ENST00000189978.5_Missense_Mutation_p.L834I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	834	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L834I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTGTACAATCTCATGCGTCT	0.542000													43	140					3.39706e-21	4.95824e-21	0.870114	1	0
CREB3L2	64764	broad.mit.edu	37	7	137600584	137600584	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:137600584C>A	ENST00000330387.6	-	3	845	c.495_splice	c.e3+1	p.G165_splice	CREB3L2_ENST00000456390.1_Splice_Site_p.G165_splice|CREB3L2_ENST00000458726.1_Splice_Site_p.G102_splice|CREB3L2_ENST00000452463.1_Splice_Site_p.G165_splice	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	165					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G165V(2)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGCATACCCCAGTGTTCAT	0.458000			T	FUS	fibromyxoid sarcoma								73	151					7.63117e-38	1.28531e-37	0.870114	1	0
NUF2	83540	broad.mit.edu	37	1	163298635	163298635	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:163298635G>T	ENST00000271452.3	+	5	554		c.e5-1		NUF2_ENST00000490881.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site|NUF2_ENST00000524800.1_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.?(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCATCTTCAAGGGACTCATTT	0.333000													87	294					6.00251e-64	1.13056e-63	0.870114	1	0
NUGGC	389643	broad.mit.edu	37	8	27887919	27887919	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:27887919C>A	ENST00000413272.2	-	16	2067	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V	NUGGC_ENST00000341513.6_Missense_Mutation_p.G642V	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G642V(2)									CTCCAGGCCCCCGAGGATGGC	0.562000													8	21					9.70103e-10	1.17126e-09	0.361761	1	0
GLB1L2	89944	broad.mit.edu	37	11	134239735	134239735	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:134239735C>T	ENST00000535456.2	+	11	1252	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	GLB1L2_ENST00000339772.7_Missense_Mutation_p.T355M|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.T355M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	355					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.T355M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCGATTACACGGCCAAGTAC	0.552000													4	149					0	0	0.150653	0	0
COL15A1	1306	broad.mit.edu	37	9	101817383	101817383	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:101817383G>T	ENST00000375001.3	+	33	3454		c.e33-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCTTTTTCAGGTCCTCCACT	0.353000													17	255					1.10513e-12	1.42145e-12	0.624587	1	0
PTGFRN	5738	broad.mit.edu	37	1	117509740	117509740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:117509740T>C	ENST00000393203.2	+	6	1994	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	616	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.L616P(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGTGAAGCTGGAGAATTGG	0.498000													50	649					0	0	0.870114	0	0
CUBN	8029	broad.mit.edu	37	10	17169921	17169921	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:17169921G>A	ENST00000377833.4	-	3	320	c.255C>T	c.(253-255)atC>atT	p.I85I	CUBN_ENST00000377823.1_Silent_p.I85I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	85					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTTTTCTGGATCTAATTTT	0.284000													9	70					0	0	0.361761	0	0
SMC4	10051	broad.mit.edu	37	3	160120494	160120494	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:160120494A>T	ENST00000357388.3	+	4	800	c.349A>T	c.(349-351)Agt>Tgt	p.S117C	SMC4_ENST00000462787.1_Missense_Mutation_p.S117C|SMC4_ENST00000360111.2_Missense_Mutation_p.S117C|SMC4_ENST00000469762.1_Missense_Mutation_p.S92C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.S117C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	117					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.S117C(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCCAAATGGCAGTGGCAAATC	0.323000													30	32					0	0	0.812448	0	0
AFF2	2334	broad.mit.edu	37	X	147743879	147743879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:147743879G>T	ENST00000370460.2	+	3	1110	c.631G>T	c.(631-633)Gag>Tag	p.E211*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.E207*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.E207*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.E207*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	211					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E211*(4)|p.E211K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTTGAAGAGTCAAACCC	0.433000													183	258					2.40723e-144	4.78353e-144	0.870114	1	0
EPHA7	2045	broad.mit.edu	37	6	93964397	93964397	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:93964397C>T	ENST00000369303.4	-	14	2684	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	834	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E834K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAGGTCTTTCTCCATAAGAC	0.398000													21	102					0	0	0.667858	0	0
SEC13	6396	broad.mit.edu	37	3	10354321	10354321	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:10354321C>G	ENST00000397117.1	-	4	807	c.216G>C	c.(214-216)tgG>tgC	p.W72C	SEC13_ENST00000383801.2_Missense_Mutation_p.W132C|SEC13_ENST00000337354.4_Missense_Mutation_p.W89C|SEC13_ENST00000350697.3_Missense_Mutation_p.W86C|SEC13_ENST00000397109.3_Missense_Mutation_p.W72C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	86					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.W86C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTTCCTCTCTCCAGATAATGA	0.582000													27	74					0	0	0.693898	0	0
STPG2	285555	broad.mit.edu	37	4	98865110	98865110	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:98865110A>G	ENST00000295268.3	-	8	1071	c.982T>C	c.(982-984)Ttg>Ctg	p.L328L		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.L328L(1)									TTGTTAGTCAAGTTAGGTAAT	0.318000													11	430					0	0	0.435327	0	0
PLCE1	51196	broad.mit.edu	37	10	96005857	96005857	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:96005857C>A	ENST00000260766.3	+	8	3209	c.2575C>A	c.(2575-2577)Cag>Aag	p.Q859K	PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551K|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859K|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGATGTGCACCAGTTCCTGCT	0.582000													78	88					8.64784e-51	1.54548e-50	0.870114	1	0
CNTN4	152330	broad.mit.edu	37	3	2908612	2908612	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:2908612C>A	ENST00000397461.1	+	7	1015	c.631C>A	c.(631-633)Cca>Aca	p.P211T	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.P211T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P211T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	211					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P211T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCACCTACACCACTAATATT	0.383000													21	67					4.26978e-12	5.42106e-12	0.654019	1	0
KCNA4	3739	broad.mit.edu	37	11	30032330	30032330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:30032330C>A	ENST00000328224.6	-	2	3129	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	632						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGTCATCCCCCTTTCCCTGAC	0.483000													58	147					7.48145e-19	1.05914e-18	0.870114	1	0
OR1J4	26219	broad.mit.edu	37	9	125281931	125281931	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:125281931A>T	ENST00000340750.1	+	1	512	c.512A>T	c.(511-513)gAc>gTc	p.D171V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D171V(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTTGTGCTGACAACACCATC	0.512000													15	165					0	0	0.457914	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486484	76486484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:76486484C>G	ENST00000307431.8	+	9	1533	c.1148C>G	c.(1147-1149)cCa>cGa	p.P383R	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGCACTGCCAGACTTCTCT	0.433000													15	123					0	0	0.500413	0	0
THSD7A	221981	broad.mit.edu	37	7	11582602	11582602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:11582602C>A	ENST00000423059.3	-	5	1847	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	532	TSP type-1 5.					integral to membrane		p.Q532H(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTCCCTTGCTGATCATTAC	0.388000										HNSCC(18;0.044)			31	115					1.22384e-17	1.70801e-17	0.769981	1	0
TRIM55	84675	broad.mit.edu	37	8	67064863	67064863	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:67064863G>T	ENST00000315962.4	+	8	1609		c.e8+1		TRIM55_ENST00000353317.5_Splice_Site|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Splice_Site	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGTGACACAGGTAACCCCTCC	0.542000													33	140					4.14481e-20	5.95335e-20	0.819951	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936027	94936027	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94936027A>T	ENST00000337425.5	-	2	279	c.205T>A	c.(205-207)Ttt>Att	p.F69I	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.F51I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.F69I	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	51					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.F69I(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CGGAAGGCAAAGTCGGTGTTG	0.582000													144	385					0	0	0.870114	0	0
COL3A1	1281	broad.mit.edu	37	2	189849689	189849689	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189849689G>T	ENST00000304636.3	+	2	452		c.e2+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.?(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAACTGCTGTGAGTTTAAA	0.388000													11	25					6.42651e-13	8.30539e-13	0.387290	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121623757	121623757	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:121623757C>G	ENST00000393386.2	+	7	1069	c.658C>G	c.(658-660)Ctt>Gtt	p.L220V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L220V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	220	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.L220V(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTGAACCTTCTGCCAAA	0.393000													140	298					0	0	0.870114	0	0
DACH2	117154	broad.mit.edu	37	X	85404014	85404014	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:85404014C>A	ENST00000373131.1	+	1	553	c.390C>A	c.(388-390)atC>atA	p.I130I	DACH2_ENST00000373125.4_Silent_p.I130I	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	130	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.I130I(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGTCCGGATCCTCCGCGGGC	0.552000													7	23					7.48243e-07	8.56604e-07	0.335167	1	0
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:11187673G>T	ENST00000337414.4	-	9	2633	c.1761C>A	c.(1759-1761)atC>atA	p.I587I	ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000413512.3_Silent_p.I396I|ARHGAP6_ENST00000380736.1_Silent_p.I384I|ARHGAP6_ENST00000303025.6_Silent_p.I384I|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	587	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.I587I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493000													128	194					3.58306e-76	6.89247e-76	0.870114	1	0
LBP	3929	broad.mit.edu	37	20	36993349	36993349	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:36993349G>T	ENST00000217407.2	+	8	1025	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	288					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T288T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTTCAACACGGCCAGCCTGG	0.473000													41	227					1.02687e-29	1.63544e-29	0.864702	1	0
MYOM3	127294	broad.mit.edu	37	1	24388533	24388533	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24388533G>A	ENST00000330966.7	-	33	4008	c.3846C>T	c.(3844-3846)caC>caT	p.H1282H	MYOM3_ENST00000338909.5_Silent_p.H172H|MYOM3_ENST00000374434.3_Silent_p.H1279H|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1279								p.H1279H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTCCAGGATGTGAAGCCAGA	0.532000													51	406					0	0	0.870114	0	0
CD163	9332	broad.mit.edu	37	12	7636091	7636091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:7636091C>A	ENST00000359156.4	-	12	3162	c.2960G>T	c.(2959-2961)gGg>gTg	p.G987V	CD163_ENST00000541972.1_Missense_Mutation_p.G975V|CD163_ENST00000432237.2_Missense_Mutation_p.G987V|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.G1020V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CGGTCCAGTCCCCTGACCAAA	0.517000													49	147					2.12129e-23	3.19077e-23	0.870114	1	0
ALPK2	115701	broad.mit.edu	37	18	56203934	56203934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:56203934G>T	ENST00000361673.3	-	5	3698	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1162							ATP binding|protein serine/threonine kinase activity	p.A523D(2)|p.A1162D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGTGCAGCAGATGTCGT	0.577000													21	76					2.81731e-10	3.44374e-10	0.750413	1	0
OR14A16	284532	broad.mit.edu	37	1	247978554	247978554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247978554C>A	ENST00000357627.1	-	1	477	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160C(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAGAAGGTGCCAGCTGTGTGC	0.473000													103	513					6.25825e-54	1.13339e-53	0.870114	1	0
MUC16	94025	broad.mit.edu	37	19	9047921	9047921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:9047921G>T	ENST00000397910.4	-	5	33913	c.33710C>A	c.(33709-33711)tCa>tAa	p.S11237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11239	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6870*(2)|p.S11237*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGACCCATGAGTCTATGGT	0.483000													49	211					6.60958e-23	9.88698e-23	0.870114	1	0
SSFA2	6744	broad.mit.edu	37	2	182784139	182784139	+	Missense_Mutation	SNP	G	G	T	rs150716378	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:182784139G>T	ENST00000431877.2	+	14	3289	c.3110G>T	c.(3109-3111)cGc>cTc	p.R1037L	SSFA2_ENST00000409136.1_Missense_Mutation_p.R546L|SSFA2_ENST00000409001.1_Missense_Mutation_p.R1037L|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000428267.2_Missense_Mutation_p.R884L|SSFA2_ENST00000320370.7_Missense_Mutation_p.R1037L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1037						cytoplasm|plasma membrane	actin binding	p.R1037L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532000													7	222					0.00448238	0.00470846	0.307466	1	0
CPED1	79974	broad.mit.edu	37	7	120911455	120911455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:120911455C>A	ENST00000310396.5	+	22	3306	c.2839C>A	c.(2839-2841)Cag>Aag	p.Q947K		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.Q947K(1)									AGAGTTTCTACAGGGGAAGTG	0.328000													214	425					2.26059e-118	4.47572e-118	0.870114	1	0
ADCY5	111	broad.mit.edu	37	3	123046503	123046503	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:123046503T>A	ENST00000462833.1	-	7	3121	c.1909A>T	c.(1909-1911)Atc>Ttc	p.I637F	ADCY5_ENST00000491190.1_Missense_Mutation_p.I270F|ADCY5_ENST00000309879.5_Missense_Mutation_p.I287F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	637					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I637F(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGGTCTCGATACTGTGCTCC	0.622000													13	41					0	0	0.435327	0	0
COL5A1	1289	broad.mit.edu	37	9	137646119	137646119	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137646119G>T	ENST00000371817.3	+	16	2188	c.1773_splice	c.e16-1	p.G592_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	592	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G592C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCTGGCAGGGTCCTCGAGG	0.627000													5	8					0.000602214	0.000647665	0.184627	1	0
FAT3	120114	broad.mit.edu	37	11	92531039	92531039	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:92531039A>T	ENST00000298047.6	+	9	4877	c.4860A>T	c.(4858-4860)ctA>ctT	p.L1620L	FAT3_ENST00000525166.1_Silent_p.L1470L|FAT3_ENST00000409404.2_Silent_p.L1620L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1620	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L1620L(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCGGTCCTAGGCATCATCA	0.428000										TCGA Ovarian(4;0.039)			136	253					0	0	0.870114	0	0
TRIML1	339976	broad.mit.edu	37	4	189068505	189068505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:189068505C>A	ENST00000332517.3	+	6	1526	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.C462*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCACCATCTGCTCACTGAACA	0.562000													9	30					1.3612e-06	1.54851e-06	0.479597	1	0
WDR36	134430	broad.mit.edu	37	5	110446486	110446486	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110446486G>T	ENST00000506538.2	+	14	2182		c.e14-1		WDR36_ENST00000513710.2_Splice_Site|WDR36_ENST00000505303.1_Splice_Site	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36						response to stimulus|rRNA processing|visual perception	small-subunit processome		p.?(2)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTACCTTACAGCTCACAAGGG	0.373000													9	35					0.000673444	0.000721404	0.361761	1	0
NCOA2	10499	broad.mit.edu	37	8	71056877	71056877	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:71056877C>G	ENST00000452400.2	-	13	2993	c.2812_splice	c.e13+1	p.G938_splice	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	938					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.G938R(2)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCCTTACCTGTGCTACTG	0.363000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	99					0	0	0.479597	0	0
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:131797656G>T	ENST00000286355.5	-	16	5218	c.3126C>A	c.(3124-3126)gcC>gcA	p.A1042A	ADCY8_ENST00000377928.3_Silent_p.A911A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCTGACACGGCCATGTAGG	0.498000										HNSCC(32;0.087)			102	377					1.54771e-57	2.83617e-57	0.870114	1	0
CIT	11113	broad.mit.edu	37	12	120263085	120263085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:120263085C>A	ENST00000392521.2	-	8	896	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	CIT_ENST00000261833.7_Missense_Mutation_p.G281C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	281	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.G281C(4)|p.G282C(2)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGTCCAGGCCGTAGGTGCCT	0.527000													124	170					1.7381e-60	3.23986e-60	0.870114	1	0
NBEA	26960	broad.mit.edu	37	13	35733541	35733541	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:35733541C>A	ENST00000400445.3	+	22	3767	c.3233C>A	c.(3232-3234)cCg>cAg	p.P1078Q	NBEA_ENST00000379939.2_Missense_Mutation_p.P1078Q|NBEA_ENST00000310336.4_Missense_Mutation_p.P1078Q|NBEA_ENST00000540320.1_Missense_Mutation_p.P1078Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1078						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.P1078Q(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATTTATCACCGGAGACTTTA	0.403000													11	85					2.31682e-05	2.57082e-05	0.479597	1	0
TEX13B	56156	broad.mit.edu	37	X	107224574	107224574	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:107224574G>A	ENST00000302917.1	-	3	767	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	225								p.L225L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAATAGCTCCGAGGGGCTGCC	0.592000													20	125					0	0	0.557998	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634713	206634713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:206634713G>T	ENST00000414007.1	+	19	2744	c.2744G>T	c.(2743-2745)gGt>gTt	p.G915V				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1055					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.G915V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAGCCCTGGTGTCAACTCA	0.502000													70	165					2.0464e-58	3.77556e-58	0.870114	1	0
NOBOX	135935	broad.mit.edu	37	7	144097391	144097391	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:144097391G>A	ENST00000467773.1	-	5	858	c.859C>T	c.(859-861)Cta>Tta	p.L287L	NOBOX_ENST00000223140.5_Silent_p.L202L|NOBOX_ENST00000483238.1_Silent_p.L287L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	287					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.L287L(4)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCTCTAGCTCCTCCAGC	0.507000													26	48					0	0	0.760397	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255192	140255192	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140255192G>T	ENST00000398631.2	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.V45V(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTTCGTGGGCCGCATCG	0.657000													10	16					3.35478e-16	4.57009e-16	0.479597	1	0
SNIP1	79753	broad.mit.edu	37	1	38005774	38005774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:38005774C>A	ENST00000296215.6	-	3	982	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	304	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A304S(2)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGAAAGACCGCATGCTGCTTT	0.428000													61	522					1.15098e-32	1.86324e-32	0.870114	1	0
ARFIP1	27236	broad.mit.edu	37	4	153802270	153802270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153802270G>T	ENST00000451320.2	+	6	731	c.567G>T	c.(565-567)atG>atT	p.M189I	ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Missense_Mutation_p.M157I|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000353617.2_Missense_Mutation_p.M189I|ARFIP1_ENST00000405727.2_Missense_Mutation_p.M157I			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	189	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.M189I(4)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTTCCAGATGGTACATACCC	0.348000													40	137					4.54978e-40	7.75971e-40	0.870114	1	0
PACS1	55690	broad.mit.edu	37	11	66001697	66001697	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:66001697G>A	ENST00000320580.4	+	17	2121	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S	PACS1_ENST00000529757.1_Silent_p.S232S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	696					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S696S(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAGTCGCTCGGAGCCACCAG	0.567000													23	136					0	0	0.654019	0	0
ALMS1	7840	broad.mit.edu	37	2	73827999	73827999	+	Missense_Mutation	SNP	T	T	G	rs45528134		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:73827999T>G	ENST00000264448.6	+	18	11971	c.11860T>G	c.(11860-11862)Tcc>Gcc	p.S3954A	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3912A|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3954					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAGAAGAATTCCCATGAAGG	0.403000													7	54					0	0	0.608945	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124423	142124423	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142124423C>A	ENST00000390376.2	-	0	54																											CCAGCATTCACTGGACCTGCA	0.547000													80	117					2.46668e-60	4.59005e-60	0.870114	1	0
ENPP3	5169	broad.mit.edu	37	6	131962666	131962666	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:131962666G>C	ENST00000414305.1	+	3	478	c.150G>C	c.(148-150)aaG>aaC	p.K50N	ENPP3_ENST00000357639.3_Missense_Mutation_p.K50N|ENPP3_ENST00000543135.1_Missense_Mutation_p.K16N|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000427148.2_Missense_Mutation_p.K16N|ENPP3_ENST00000358229.5_Missense_Mutation_p.K50N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	50	SMB 1.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.K50N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AACTGGAAAAGCAAGGTATAC	0.423000													4	164					0	0	0.150653	0	0
ATXN1	6310	broad.mit.edu	37	6	16328052	16328052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:16328052C>A	ENST00000244769.4	-	8	1426	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ATXN1_ENST00000436367.1_Missense_Mutation_p.G164W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	164					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.G164W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGTGGCCCCTGCGGCCGAG	0.637000													20	21					9.39395e-14	1.2287e-13	0.706142	1	0
VPS16	64601	broad.mit.edu	37	20	2840774	2840774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:2840774G>T	ENST00000380445.3	+	3	289	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	VPS16_ENST00000380469.3_Missense_Mutation_p.G73C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	73					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.G73C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCTGCTTCCGGCATGCCTCT	0.577000													14	27					9.16793e-09	1.08631e-08	0.520397	1	0
TGM4	7047	broad.mit.edu	37	3	44951851	44951851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:44951851C>A	ENST00000296125.4	+	11	1665	c.1597C>A	c.(1597-1599)Caa>Aaa	p.Q533K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	533					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q533K(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCGCAGATCCAAGGTCAAGG	0.498000													42	75					1.12205e-10	1.38088e-10	0.870114	1	0
ETNPPL	64850	broad.mit.edu	37	4	109670480	109670480	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:109670480C>T	ENST00000296486.3	-	8	995	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	ETNPPL_ENST00000512646.1_Missense_Mutation_p.G223S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G275S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G241S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.G281S(2)									TGGCCGTTGCCCATCGGTTTT	0.468000													26	81					0	0	0.750413	0	0
ALK	238	broad.mit.edu	37	2	29551271	29551271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:29551271C>A	ENST00000389048.3	-	6	2265	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	453	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.Q453H(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTCACAGGCCTGCCCAAGCT	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				12	116					2.80697e-09	3.35906e-09	0.387290	1	0
PLCB1	23236	broad.mit.edu	37	20	8770893	8770893	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:8770893G>T	ENST00000378641.3	+	31	3883	c.3408G>T	c.(3406-3408)ctG>ctT	p.L1136L	PLCB1_ENST00000378637.2_Silent_p.L1136L|PLCB1_ENST00000338037.6_Silent_p.L1136L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1136					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAGATCCTGGATGAAAAGC	0.338000													29	106					2.20474e-14	2.90125e-14	0.788014	1	0
LARP4B	23185	broad.mit.edu	37	10	860901	860901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:860901G>A	ENST00000316157.3	-	15	1845	c.1805C>T	c.(1804-1806)cCa>cTa	p.P602L	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	602							nucleotide binding|RNA binding	p.P602L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAAATGAGCTGGGGAGGGGGA	0.547000													7	80					0	0	0.335167	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144863409	144863409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:144863409C>A	ENST00000369359.4	-	40	6440	c.6402G>T	c.(6400-6402)caG>caT	p.Q2134H	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2083H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1892H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1998H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1998					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCTTCACACTGTTGCTGCA	0.522000			T	PDGFRB	MPD								9	515					1.3612e-06	1.54851e-06	0.479597	1	0
CACNA1E	777	broad.mit.edu	37	1	181689959	181689959	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:181689959A>C	ENST00000526775.1	+	15	2089	c.1924A>C	c.(1924-1926)Acc>Ccc	p.T642P	CACNA1E_ENST00000357570.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T249P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T642P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T642P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T642P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	642					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T642P(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTTTGATACCTTCCCTGC	0.428000													12	35					0	0	0.575678	0	0
EPHA6	285220	broad.mit.edu	37	3	96706434	96706434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:96706434C>A	ENST00000389672.5	+	3	749	c.711C>A	c.(709-711)aaC>aaA	p.N237K	EPHA6_ENST00000470610.2_Missense_Mutation_p.N237K|EPHA6_ENST00000542517.1_Missense_Mutation_p.N143K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	142						integral to plasma membrane	ATP binding|ephrin receptor activity	p.N143K(4)|p.N237K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCAAGCCAAACCAGTATACAA	0.413000													176	542					2.07866e-96	4.08563e-96	0.870114	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222743	140222743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140222743C>A	ENST00000531613.1	+	1	1837	c.1837C>A	c.(1837-1839)Cca>Aca	p.P613T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P613T|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1												p.P613T(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTGCAGCCAGCTGCAAG	0.687000													13	37					5.01169e-05	5.53279e-05	0.520397	1	0
BRINP3	339479	broad.mit.edu	37	1	190250721	190250721	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:190250721C>A	ENST00000367462.3	-	3	627	c.396G>T	c.(394-396)ggG>ggT	p.G132G	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		132						extracellular region		p.G132G(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAAATGTGTCCCATATTTCT	0.453000													38	139					4.67007e-22	6.9094e-22	0.840704	1	0
APOBEC4	403314	broad.mit.edu	37	1	183617876	183617876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:183617876G>A	ENST00000308641.4	-	2	312	c.41C>T	c.(40-42)aCa>aTa	p.T14I	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	14					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.T14I(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTTACTATTGTTCCATGATT	0.378000													53	195					0	0	0.870114	0	0
OGN	4969	broad.mit.edu	37	9	95165621	95165621	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:95165621G>T	ENST00000262551.4	-	2	489	c.69C>A	c.(67-69)acC>acA	p.T23T	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Silent_p.T23T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	23						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGTCCTGCTGGGTTGGTGGTG	0.383000													34	86					4.14481e-20	5.95335e-20	0.819951	1	0
SMURF1	57154	broad.mit.edu	37	7	98633309	98633309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:98633309A>C	ENST00000361125.1	-	17	2237	c.1918T>G	c.(1918-1920)Ttg>Gtg	p.L640V	SMURF1_ENST00000361368.2_Missense_Mutation_p.L614V|AC004893.11_ENST00000360902.1_RNA|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	640	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	p.L640V(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTCGTTCAAGTCTATTTTA	0.522000													5	40					0	0	0.248553	0	0
WDR65	149465	broad.mit.edu	37	1	43638557	43638557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:43638557C>A	ENST00000372492.4	+	2	457	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	WDR65_ENST00000528956.1_Missense_Mutation_p.Q45K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	45								p.Q45K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAATGTGGATCAGAAATGGCA	0.383000													53	176					2.19297e-23	3.29401e-23	0.870114	1	0
ZC4H2	55906	broad.mit.edu	37	X	64139003	64139003	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:64139003A>T	ENST00000545618.1	-	5	1028	c.465T>A	c.(463-465)gcT>gcA	p.A155A	ZC4H2_ENST00000337990.2_Silent_p.A137A|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Silent_p.A160A			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	160							metal ion binding|protein binding	p.A160A(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTGGGCGGCAGCGGCTGCAG	0.582000													19	29					0	0	0.769981	0	0
GRM8	2918	broad.mit.edu	37	7	126173340	126173340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173340G>T	ENST00000339582.2	-	9	2904	c.2096C>A	c.(2095-2097)aCc>aAc	p.T699N	GRM8_ENST00000358373.3_Missense_Mutation_p.T699N|GRM8_ENST00000444921.2_Missense_Mutation_p.T699N|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	699					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T699N(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGGCTGAAGGTGATCACCAG	0.498000										HNSCC(24;0.065)			50	86					3.21867e-24	4.89582e-24	0.870114	1	0
CHD6	84181	broad.mit.edu	37	20	40081428	40081428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:40081428T>A	ENST00000373233.3	-	21	3452	c.3275A>T	c.(3274-3276)tAc>tTc	p.Y1092F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1092					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.Y1092F(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGCTCGGAGGTAGCGCCTGGC	0.517000													5	170					0	0	0.217242	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476788	102476788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:102476788G>T	ENST00000360184.4	+	31	6561	c.6397G>T	c.(6397-6399)Gaa>Taa	p.E2133*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2133					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.E2133*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAATCTCCCTGAACAAGAGGT	0.388000													28	50					9.17885e-22	1.35617e-21	0.779181	1	0
PI4KB	5298	broad.mit.edu	37	1	151288658	151288658	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151288658C>A	ENST00000368875.2	-	3	916	c.336G>T	c.(334-336)gaG>gaT	p.E112D	PI4KB_ENST00000368874.4_Missense_Mutation_p.E100D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E112D|PI4KB_ENST00000368872.1_Missense_Mutation_p.E100D|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.E100D	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	100					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.E112D(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCATCTTCCTCCTCCCTGA	0.577000													47	224					5.66675e-16	7.69059e-16	0.870114	1	0
EXT2	2132	broad.mit.edu	37	11	44228501	44228501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:44228501G>T	ENST00000395673.3	+	10	1809	c.1753G>T	c.(1753-1755)Ggt>Tgt	p.G585C	EXT2_ENST00000343631.3_Missense_Mutation_p.G552C|EXT2_ENST00000533608.1_Missense_Mutation_p.G552C|EXT2_ENST00000358681.4_Missense_Mutation_p.G562C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGCAATTTGGTTATGAGGT	0.353000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				71	319					1.4648e-57	2.68879e-57	0.870114	1	0
DDC	1644	broad.mit.edu	37	7	50596906	50596906	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:50596906C>A	ENST00000444124.2	-	5	770	c.570_splice	c.e5+1	p.Q190_splice	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Splice_Site_p.Q190_splice|DDC_ENST00000431062.1_Intron|DDC_ENST00000426377.1_Splice_Site_p.Q112_splice|DDC_ENST00000357936.5_Splice_Site_p.Q190_splice	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	190					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Q190H(4)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACACACTCACCTGATCGGATG	0.512000													80	177					4.00701e-44	6.98807e-44	0.870114	1	0
FGB	2244	broad.mit.edu	37	4	155490753	155490753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155490753G>A	ENST00000302068.4	+	7	1109	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.G130E	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	349	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G349E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GACTGGAAAGGAGACAAAGTA	0.413000													15	283					0	0	0.539581	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168740	32168740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:32168740C>A	ENST00000375023.3	-	23	4321	c.4183G>T	c.(4183-4185)Gac>Tac	p.D1395Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1395					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1395Y(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCGGGTGGTCAGGGCCACAG	0.637000													23	35					6.00712e-18	8.42709e-18	0.760397	1	0
NCKAP5	344148	broad.mit.edu	37	2	133554252	133554252	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:133554252C>A	ENST00000409261.1	-	12	1231	c.858G>T	c.(856-858)gaG>gaT	p.E286D	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E286D|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E286D|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E286D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	286							protein binding	p.E286D(1)|p.E125D(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTTTCCACCTCTGAAAGCA	0.408000													8	88					0.000673444	0.000721404	0.361761	1	0
OTOA	146183	broad.mit.edu	37	16	21737980	21737980	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21737980G>T	ENST00000388958.3	+	18	2017		c.e18+1		OTOA_ENST00000388957.3_Splice_Site|OTOA_ENST00000388956.4_Splice_Site|OTOA_ENST00000286149.4_Splice_Site	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin						sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCAGTGCCTGGTAAGAAAACT	0.537000													31	190					2.87052e-16	3.92027e-16	0.812448	1	0
CCDC171	203238	broad.mit.edu	37	9	15745522	15745522	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:15745522A>C	ENST00000380701.3	+	18	2892	c.2564A>C	c.(2563-2565)aAg>aCg	p.K855T	CCDC171_ENST00000297641.3_Missense_Mutation_p.K855T	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	855								p.K855T(2)|p.K122T(2)									GAACATCAAAAGGAGCAGTTG	0.333000													133	416					0	0	0.870114	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906614	84906614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:84906614G>C	ENST00000262424.5	+	10	1222	c.998G>C	c.(997-999)cGc>cCc	p.R333P	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R332P|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R333P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1.					extracellular region|transport vesicle		p.R333P(2)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGCATATGCCGCGCCGCCATC	0.547000													25	148					0	0	0.750413	0	0
SDK1	221935	broad.mit.edu	37	7	4153708	4153708	+	Missense_Mutation	SNP	G	G	T	rs142268038		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:4153708G>T	ENST00000404826.2	+	25	3764	c.3625G>T	c.(3625-3627)Gtg>Ttg	p.V1209L	SDK1_ENST00000389531.3_Missense_Mutation_p.V1209L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1209	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.V1209L(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGAGTCCGTGGGCTACAG	0.587000													7	30					2.0095e-06	2.27883e-06	0.248553	1	0
CLASP1	23332	broad.mit.edu	37	2	122106236	122106236	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:122106236T>A	ENST00000263710.4	-	38	4654	c.4265A>T	c.(4264-4266)cAg>cTg	p.Q1422L	CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1378L|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1361L|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q1139L|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1362L|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q1129L|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1355L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1422	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.Q1422L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATGCACTGCTCCGGGTG	0.587000													13	60					0	0	0.479597	0	0
NAGPA	51172	broad.mit.edu	37	16	5078049	5078049	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:5078049C>A	ENST00000312251.3	-	6	1077	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.R353L	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	353					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.R353L(2)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCCGGGACCCCGCCAGAAGTG	0.687000													6	14					0.0477658	0.0487103	0.307466	1	0
ASTL	431705	broad.mit.edu	37	2	96801117	96801117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:96801117G>C	ENST00000342380.2	-	3	215	c.216C>G	c.(214-216)ttC>ttG	p.F72L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	72					proteolysis		metalloendopeptidase activity|zinc ion binding	p.F72L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCGATGAGGAAGCTGCTCT	0.607000													4	22					0	0	0.217242	0	0
FYCO1	79443	broad.mit.edu	37	3	46021226	46021226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:46021226C>A	ENST00000296137.2	-	4	464	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	FYCO1_ENST00000535325.1_Missense_Mutation_p.G87W	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	87	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.G87W(2)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AAGCGGATCCCATCATTGGCT	0.507000													45	133					1.51926e-22	2.25391e-22	0.870114	1	0
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:203452395C>A	ENST00000343110.2	+	2	210	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P28H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647000													18	46					7.26314e-15	9.61612e-15	0.717897	1	0
IGKV1-33	28933	broad.mit.edu	37	2	89568195	89568195	+	RNA	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:89568195A>T	ENST00000473726.1	-	0	68																											CCAGAGCAGCAGGAGCCCCAG	0.527000													16	63					0	0	0.557998	0	0
GALC	2581	broad.mit.edu	37	14	88407816	88407816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:88407816C>A	ENST00000261304.2	-	15	1863	c.1757G>T	c.(1756-1758)gGt>gTt	p.G586V	GALC_ENST00000393568.4_Missense_Mutation_p.G563V|GALC_ENST00000393569.2_Missense_Mutation_p.G560V|GALC_ENST00000544807.2_Missense_Mutation_p.G530V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	586					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.G586V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATCAAAATACCACCTTTATT	0.358000													40	442					1.23713e-20	1.7984e-20	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	113246706	113246706	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113246706C>A	ENST00000297405.5	-	68	10872	c.10627_splice	c.e68-1	p.G3543_splice	CSMD3_ENST00000343508.3_Splice_Site_p.G3503_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G3374_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G3473_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3543						integral to membrane|plasma membrane		p.G3503V(2)|p.G3543V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATATACCCCTGTAAAATG	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	333					8.53417e-09	1.01455e-08	0.769981	1	0
PLCB1	23236	broad.mit.edu	37	20	8770894	8770894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:8770894G>T	ENST00000378641.3	+	31	3884	c.3409G>T	c.(3409-3411)Gat>Tat	p.D1137Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.D1137Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D1137Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1137					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAGATCCTGGATGAAAAGCC	0.343000													28	108					2.47316e-13	3.21155e-13	0.779181	1	0
REG3A	5068	broad.mit.edu	37	2	79384784	79384784	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79384784C>A	ENST00000393878.1	-	4	628	c.374G>T	c.(373-375)aGt>aTt	p.S125I	REG3A_ENST00000409839.3_Missense_Mutation_p.S125I|REG3A_ENST00000305165.2_Missense_Mutation_p.S125I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S125I(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCACATCACTGCTACTCCA	0.542000													67	225					1.34568e-36	2.23523e-36	0.870114	1	0
NHSL2	340527	broad.mit.edu	37	X	71360426	71360426	+	Missense_Mutation	SNP	G	G	T	rs140270842		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:71360426G>T	ENST00000373677.1	+	2	3192	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	NHSL2_ENST00000535692.1_Missense_Mutation_p.V644L|NHSL2_ENST00000540800.1_Missense_Mutation_p.V1010L|NHSL2_ENST00000510661.1_Missense_Mutation_p.V779L			F5H593	F5H593_HUMAN	NHS-like 2	1010								p.V1010L(2)|p.V641L(2)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAAACCCAGCGTGCTGTACCT	0.532000													8	17					0.00621372	0.00646441	0.335167	1	0
OR4B1	119765	broad.mit.edu	37	11	48238932	48238932	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:48238932T>C	ENST00000309562.2	+	1	589	c.571T>C	c.(571-573)Ttc>Ctc	p.F191L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F191L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGACACCTTCATGGAGGG	0.453000													19	572					0	0	0.608945	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688809	65688809	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:65688809C>A	ENST00000335257.6	+	9	1151	c.804C>A	c.(802-804)gtC>gtA	p.V268V	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Silent_p.V268V|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CTTCTTCCGTCCGCAGTGCGC	0.552000													8	266					0.000274275	0.000297635	0.307466	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854255	178854255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:178854255G>T	ENST00000367635.3	+	12	1287	c.949G>T	c.(949-951)Gca>Tca	p.A317S	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.A317S|RALGPS2_ENST00000324778.4_Missense_Mutation_p.A282S	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	317					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAAGTGTGGCAGCTGAAGG	0.448000													35	64					6.21074e-16	8.41831e-16	0.859065	1	0
EIF4A2	1974	broad.mit.edu	37	3	186505350	186505350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:186505350G>T	ENST00000323963.5	+	9	1040	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	EIF4A2_ENST00000440191.2_Missense_Mutation_p.V327F|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V231F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	326	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.V326F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTCAAGTCGTGTTCTGATCAC	0.398000			T	BCL6	NHL								34	123					2.68985e-26	4.14973e-26	0.870114	1	0
STK32C	282974	broad.mit.edu	37	10	134040418	134040418	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:134040418G>T	ENST00000368622.1	-	4	555	c.174C>A	c.(172-174)ggC>ggA	p.G58G	STK32C_ENST00000368625.4_Silent_p.G188G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	175							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G188G(2)|p.G175G(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAGGTCCCCGCCCAGTAGCA	0.627000													11	12					0.010729	0.0111405	0.387290	1	0
SOX5	6660	broad.mit.edu	37	12	23999036	23999036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:23999036C>A	ENST00000546136.1	-	2	325	c.323G>T	c.(322-324)gGc>gTc	p.G108V	SOX5_ENST00000537393.1_Missense_Mutation_p.G86V|SOX5_ENST00000545921.1_Missense_Mutation_p.G111V|SOX5_ENST00000451604.2_Missense_Mutation_p.G121V|SOX5_ENST00000441133.2_Missense_Mutation_p.G86V|SOX5_ENST00000309359.1_Missense_Mutation_p.G108V|SOX5_ENST00000541847.1_Missense_Mutation_p.G111V|SOX5_ENST00000381381.2_Missense_Mutation_p.G108V|SOX5_ENST00000541536.1_Missense_Mutation_p.G108V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G121V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGACTCGCCACTCTGTCG	0.498000													15	147					9.16793e-09	1.08631e-08	0.520397	1	0
FAF1	11124	broad.mit.edu	37	1	50941174	50941174	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:50941174C>A	ENST00000396153.2	-	18	2282	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	FAF1_ENST00000371778.4_Missense_Mutation_p.D611Y|FAF1_ENST00000545823.1_Missense_Mutation_p.D369Y	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	611	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.D611Y(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTACTCATCCCATGGAAAT	0.488000													12	581					5.35267e-07	6.15386e-07	0.557998	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565835	33565835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:33565835C>A	ENST00000321505.4	+	1	2015	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T612N|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T612N					KIAA1549-like									p.T612N(4)									TTTCCCAGGACCTCCTCCAGA	0.502000													26	388					7.26314e-15	9.61612e-15	0.717897	1	0
TET1	80312	broad.mit.edu	37	10	70446412	70446412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:70446412G>T	ENST00000373644.4	+	11	5561	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1784					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.K1784N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAAGCGGAAGAATAACTCAA	0.458000													30	284					1.47244e-24	2.25234e-24	0.819951	1	0
UCHL3	7347	broad.mit.edu	37	13	76134927	76134927	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:76134927C>T	ENST00000377595.3	+	3	123	c.93C>T	c.(91-93)ttC>ttT	p.F31F	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	31					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.F31F(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		ACTGGCAATTCGTTGATGTAT	0.338000													5	197					0	0	0.248553	0	0
SKA2	348235	broad.mit.edu	37	17	57232319	57232319	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:57232319G>A	ENST00000580541.1	-	1	226	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SKA2_ENST00000437036.2_Silent_p.L42L|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583927.1_Intron			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.L42L(2)		lung(4)	4						CCCCTTACCCGAGGCGGTTTA	0.612000													4	116					0	0	0.184627	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858090	149858090	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:149858090C>A	ENST00000369155.2	-	1	142	c.101G>T	c.(100-102)cGc>cTc	p.R34L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	34					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTCTCTTTGCGGCTGCGCTT	0.572000													11	591					0.0931896	0.0947646	0.411799	1	0
RYR2	6262	broad.mit.edu	37	1	237955446	237955446	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237955446G>T	ENST00000366574.2	+	94	13922	c.13605G>T	c.(13603-13605)acG>acT	p.T4535T	RYR2_ENST00000360064.6_Silent_p.T4541T|RYR2_ENST00000542537.1_Silent_p.T4519T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4535					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T4533T(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTCCCCACGAGAAGTTCAA	0.463000													5	57					0.000602214	0.000647665	0.184627	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376671	75376671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:75376671C>A	ENST00000555647.1	-	8	1132	c.845G>T	c.(844-846)aGg>aTg	p.R282M	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R282M|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R282M|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R251M			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	282	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity	p.R282M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGGAGAAGTCCTAGGAGGCTC	0.642000													6	11					0.0215528	0.0221458	0.217242	1	0
TSIX	9383	broad.mit.edu	37	X	73047408	73047408	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:73047408A>G	ENST00000604411.1	+	0	35369				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAGTAGAAACAGCAGAAAGGA	0.433000													10	14					0	0	0.361761	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564585	66564585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:66564585G>C	ENST00000360242.5	+	6	1300	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	CCDC102B_ENST00000358653.5_Missense_Mutation_p.D395H|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D395H|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D395H	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	395								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGCTTTTGGATAAGAAAAA	0.408000													8	104					0	0	0.307466	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:74899193C>A	ENST00000289575.5	+	8	1380	c.985C>A	c.(985-987)Ccc>Acc	p.P329T	SLCO2B1_ENST00000531756.1_Missense_Mutation_p.P74T|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.P102T|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.P102T|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.P213T|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.P185T|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P307T	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	329					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.P329T(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAAGGACTCTCCCTCTAAGCA	0.557000													59	77					4.13886e-29	6.57241e-29	0.870114	1	0
INSC	387755	broad.mit.edu	37	11	15243085	15243085	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:15243085G>T	ENST00000379554.3	+	8	1069	c.1023G>T	c.(1021-1023)cgG>cgT	p.R341R	INSC_ENST00000528567.1_Silent_p.R294R|INSC_ENST00000530161.1_Silent_p.R294R|INSC_ENST00000525218.1_Silent_p.R252R|INSC_ENST00000379556.3_Silent_p.R294R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Silent_p.R252R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	341					cell differentiation|nervous system development	cytoplasm	binding	p.R341R(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCCACACGGGCTGAGGCTG	0.637000													19	57					2.97696e-44	5.20008e-44	0.870114	1	0
TTLL11	158135	broad.mit.edu	37	9	124751501	124751501	+	Silent	SNP	C	C	G	rs144762491		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:124751501C>G	ENST00000321582.5	-	4	1699	c.1512G>C	c.(1510-1512)acG>acC	p.T504T	TTLL11_ENST00000373776.3_Silent_p.T504T|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	504	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.T504T(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCGGCCTCCCCGTGGGGATGT	0.577000													8	188					0	0	0.435327	0	0
HAS2	3037	broad.mit.edu	37	8	122641133	122641133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:122641133T>A	ENST00000303924.4	-	2	985	c.448A>T	c.(448-450)Aac>Tac	p.N150Y		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	150						integral to plasma membrane	hyaluronan synthase activity	p.N150Y(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGTTGTTCTTCCAGATA	0.438000													34	575					0	0	0.769981	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140559208G>A	ENST00000239444.2	+	1	1838	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672000													4	54					0	0	0.217242	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:43430713G>A	ENST00000446844.3	-	0	954				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493000													86	453					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216143975	216143975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216143975C>A	ENST00000366943.2	-	36	7335	c.6949G>T	c.(6949-6951)Ggc>Tgc	p.G2317C	USH2A_ENST00000307340.3_Missense_Mutation_p.G2317C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2317	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2317C(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAGTGGGCCCAGAGCACAA	0.453000										HNSCC(13;0.011)			72	142					9.08522e-28	1.42186e-27	0.870114	1	0
OR4A15	81328	broad.mit.edu	37	11	55135664	55135664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:55135664C>A	ENST00000314706.3	+	1	305	c.305C>A	c.(304-306)tCt>tAt	p.S102Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S102Y(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCGTCTATTCTACTGCATTT	0.413000													132	459					1.38722e-55	2.52498e-55	0.870114	1	0
ZP4	57829	broad.mit.edu	37	1	238051764	238051764	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:238051764C>A	ENST00000366570.4	-	4	605	c.447G>T	c.(445-447)cgG>cgT	p.R149R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	149	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R149R(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCAGTCTGTCCCGTGCTGGGA	0.473000													83	330					6.50375e-52	1.16809e-51	0.870114	1	0
KMT2C	58508	broad.mit.edu	37	7	151962159	151962159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:151962159C>A	ENST00000355193.2	-	8	1366	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	KMT2C_ENST00000262189.6_Missense_Mutation_p.W383L					lysine (K)-specific methyltransferase 2C									p.W383L(2)									AGGACATTGCCAACCTGCACG	0.438000													90	2740					1.16021e-09	1.39612e-09	0.717897	1	0
OR52B4	143496	broad.mit.edu	37	11	4389399	4389399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4389399C>A	ENST00000408920.2	-	1	217	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCTGTTCCCAAGAAGGGCG	0.522000													36	294					2.05212e-20	2.96722e-20	0.812448	1	0
SPEF2	79925	broad.mit.edu	37	5	35793323	35793323	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:35793323G>T	ENST00000440995.2	+	32	4602	c.4602G>T	c.(4600-4602)ctG>ctT	p.L1534L	SPEF2_ENST00000303129.4_Silent_p.L336L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.L1539L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1539					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.L1539L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGTTCCTGTTAGTAACCT	0.448000													91	396					1.62402e-62	3.0535e-62	0.870114	1	0
CPED1	79974	broad.mit.edu	37	7	120911454	120911454	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:120911454A>T	ENST00000310396.5	+	22	3305	c.2838A>T	c.(2836-2838)ctA>ctT	p.L946L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.L946L(1)|p.Q947K(1)									AAGAGTTTCTACAGGGGAAGT	0.328000													213	424					0	0	0.870114	0	0
USP6	9098	broad.mit.edu	37	17	5045714	5045714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:5045714G>A	ENST00000574788.1	+	25	3965	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	USP6_ENST00000332776.4_Missense_Mutation_p.G579R|USP6_ENST00000304328.5_Missense_Mutation_p.G262R|USP6_ENST00000250066.6_Missense_Mutation_p.G579R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	579					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G579R(4)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTATGAAGGGGCATATGGC	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								7	17					0	0	0.435327	0	0
SPN	6693	broad.mit.edu	37	16	29675148	29675148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:29675148G>T	ENST00000360121.3	+	2	191	c.99G>T	c.(97-99)ttG>ttT	p.L33F	SPN_ENST00000395389.2_Missense_Mutation_p.L33F|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	33					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	p.L33F(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAGAGCCTTTGGTCTCTACTA	0.577000													17	81					1.2644e-06	1.44446e-06	0.592651	1	0
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:40468681C>T	ENST00000287598.6	+	5	583	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	BUB1B_ENST00000412359.3_Missense_Mutation_p.R144C|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R130C(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				77	169					0	0	0.870114	0	0
PRKD1	5587	broad.mit.edu	37	14	30133065	30133065	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:30133065C>A	ENST00000331968.5	-	4	765	c.535_splice	c.e4-1	p.G179_splice	PRKD1_ENST00000415220.2_Splice_Site_p.G179_splice	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	179					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.G179V(4)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGACCACACCCTGGAAAGGG	0.358000													54	163					9.87224e-16	1.32981e-15	0.870114	1	0
HEPHL1	341208	broad.mit.edu	37	11	93821930	93821930	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:93821930G>C	ENST00000315765.9	+	12	2098	c.2090G>C	c.(2089-2091)aGg>aCg	p.R697T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	697	Plastocyanin-like 4.			R -> G (in Ref. 3; CAE46009).	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R701T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGTATTTTTAGGGTGTTTTGT	0.488000													4	82					0	0	0.217242	0	0
MRPL30	51263	broad.mit.edu	37	2	99804653	99804653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:99804653G>T	ENST00000338148.3	+	3	263	c.65G>T	c.(64-66)gGt>gTt	p.G22V	C2orf15_ENST00000512183.2_Missense_Mutation_p.G22V|MRPL30_ENST00000465432.1_Intron|MRPL30_ENST00000409145.1_Missense_Mutation_p.G22V|MRPL30_ENST00000410042.1_Missense_Mutation_p.G22V	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	22					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G22V(2)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAAGGTGTGGAGTCT	0.313000													18	77					7.4402e-23	1.11141e-22	0.667858	1	0
TUBA4B	80086	broad.mit.edu	37	2	220136384	220136384	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220136384T>C	ENST00000490341.1	+	0	854					NR_003063.1																						TGGCAGAGATTACCAATGCCT	0.552000													3	68					0	0	0.335167	0	0
NEDD4	4734	broad.mit.edu	37	15	56140724	56140724	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:56140724T>C	ENST00000508342.1	-	12	3034	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S	NEDD4_ENST00000435532.3_Missense_Mutation_p.N493S|NEDD4_ENST00000506154.1_Missense_Mutation_p.N896S|NEDD4_ENST00000338963.2_Missense_Mutation_p.N840S			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	912	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.N493S(2)|p.N840S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATACTGTGATTTATGTAGAA	0.308000													21	63					0	0	0.706142	0	0
RXRG	6258	broad.mit.edu	37	1	165378913	165378913	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:165378913G>A	ENST00000359842.5	-	7	1230	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	310	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGGCAATCAGCAATTCATTC	0.502000													7	72					0	0	0.335167	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408635	80408635	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:80408635T>C	ENST00000265080.4	+	14	2112	c.2045T>C	c.(2044-2046)cTc>cCc	p.L682P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	682	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L682P(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGGGAAACTCTCCGACATA	0.493000													109	358					0	0	0.870114	0	0
ACRBP	84519	broad.mit.edu	37	12	6756063	6756063	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:6756063G>T	ENST00000229243.2	-	2	252	c.159C>A	c.(157-159)acC>acA	p.T53T	ACRBP_ENST00000536350.1_Silent_p.T53T|ACRBP_ENST00000414226.2_Silent_p.T53T	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	53						acrosomal vesicle|extracellular region		p.T53T(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGCCTTCCAGGTTGGAGTCA	0.607000													10	29					2.68362e-12	3.43541e-12	0.411799	1	0
ZC3H6	376940	broad.mit.edu	37	2	113089158	113089158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:113089158C>G	ENST00000409871.1	+	12	3064	c.2663C>G	c.(2662-2664)cCt>cGt	p.P888R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P888R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	888							nucleic acid binding|zinc ion binding	p.P888R(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTCCAGTACCTTTACCTAAA	0.403000													20	69					0	0	0.608945	0	0
EPHA5	2044	broad.mit.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K|EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.Q730K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATCAAACTGTCCCATGATA	0.388000										TSP Lung(17;0.13)			140	582					9.97597e-95	1.95018e-94	0.870114	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118006108	118006108	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:118006108C>A	ENST00000310754.4	-	1	628	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	148	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D148Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTTGGGTCTGACAGGCAG	0.383000													32	184					2.38352e-08	2.80582e-08	0.796494	1	0
PSD	5662	broad.mit.edu	37	10	104173662	104173662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:104173662C>G	ENST00000020673.5	-	5	1943	c.1417G>C	c.(1417-1419)Gct>Cct	p.A473P	PSD_ENST00000406432.1_Missense_Mutation_p.A473P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	473					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.A258P(2)|p.A473P(2)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCATCAGCAGCAGAGCTGGTA	0.662000													8	13					0	0	0.435327	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890471	43890471	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:43890471C>T	ENST00000300283.6	+	8	1349	c.957C>T	c.(955-957)aaC>aaT	p.N319N	CKMT1B_ENST00000441322.1_Silent_p.N319N	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	319	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.N319N(2)		large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCCATCTAACCTGGGCACTG	0.512000													50	179					0	0	0.870114	0	0
LYST	1130	broad.mit.edu	37	1	235973688	235973688	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:235973688T>C	ENST00000389794.3	-	5	604	c.430A>G	c.(430-432)Aga>Gga	p.R144G	LYST_ENST00000536965.1_Missense_Mutation_p.R144G|LYST_ENST00000389793.2_Missense_Mutation_p.R144G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	144					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R144G(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGCTGTCGTCTGCTTTTTCGA	0.398000													26	276					0	0	0.760397	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			105	145					0	0	0.870114	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393555	136393555	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:136393555A>T	ENST00000264160.4	+	10	1164	c.794A>T	c.(793-795)aAa>aTa	p.K265I	R3HDM1_ENST00000410054.1_Missense_Mutation_p.K209I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.K221I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.K265I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.K221I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	265							nucleic acid binding	p.K265I(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCTTTGACAAAGATGATAAC	0.323000													42	141					0	0	0.870114	0	0
COL5A2	1290	broad.mit.edu	37	2	189904126	189904126	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189904126G>A	ENST00000374866.3	-	51	4071	c.3797C>T	c.(3796-3798)cCa>cTa	p.P1266L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1266L(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGAACCCCTGGGTCCGTTTT	0.517000													24	48					0	0	0.693898	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787877	27787877	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:27787877T>C	ENST00000318304.8	+	4	382	c.99T>C	c.(97-99)ttT>ttC	p.F33F	PPFIBP1_ENST00000542629.1_Silent_p.F33F|PPFIBP1_ENST00000545334.1_Silent_p.F33F|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000535047.1_Silent_p.F33F|PPFIBP1_ENST00000228425.6_Silent_p.F33F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	33					cell adhesion	plasma membrane	protein binding	p.F33F(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATGGGATTTTTGATTGCCAAT	0.418000													6	255					0	0	0.278610	0	0
INTS2	57508	broad.mit.edu	37	17	59962347	59962347	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:59962347G>A	ENST00000444766.3	-	16	2103	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	INTS2_ENST00000251334.6_Silent_p.P668P	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	676					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.P676P(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AATATGATTTGGGCTTTCTTT	0.353000													12	39					0	0	0.457914	0	0
TAF1L	138474	broad.mit.edu	37	9	32633786	32633786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:32633786C>A	ENST00000242310.4	-	1	1881	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	598					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCGAAGACCCTGTTGCTTG	0.478000													137	331					1.65771e-47	2.92872e-47	0.870114	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48143570	48143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:48143570C>A	ENST00000405493.2	-	9	931	c.722G>T	c.(721-723)tGg>tTg	p.W241L	RAPGEF3_ENST00000548919.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.W241L|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.W283L	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	241					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.W241L(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GATAATGTACCACGAAGTGCC	0.592000													27	31					1.39806e-14	1.84196e-14	0.729181	1	0
KCNK18	338567	broad.mit.edu	37	10	118960761	118960761	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:118960761C>T	ENST00000334549.1	+	2	315	c.315C>T	c.(313-315)agC>agT	p.S105S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	105						integral to membrane|plasma membrane		p.S105S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCTTCCTGAGCTCGCTCTTTT	0.557000													55	74					0	0	0.870114	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444598	49444598	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:49444598T>A	ENST00000374201.3	-	9	1224		c.e9-2		FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.?(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTGGAAAACTGGAGGAAAAC	0.552000													11	92					0	0	0.457914	0	0
KCTD3	51133	broad.mit.edu	37	1	215759874	215759874	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:215759874G>C	ENST00000259154.4	+	9	957	c.663G>C	c.(661-663)acG>acC	p.T221T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	221						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.T221T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGTGTTTACGAGCCCATATT	0.443000													95	407					0	0	0.870114	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140712339G>T	ENST00000517417.1	+	1	2088	c.2088G>T	c.(2086-2088)gcG>gcT	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1												p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672000													24	67					3.62531e-18	5.1056e-18	0.796494	1	0
TBX22	50945	broad.mit.edu	37	X	79277847	79277847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:79277847C>A	ENST00000373294.5	+	1	107	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.P27T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	27					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P27T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAAGACCCAATACAGGC	0.607000													10	16					1.76689e-08	2.0822e-08	0.335167	1	0
ITIH1	3697	broad.mit.edu	37	3	52818397	52818397	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:52818397C>T	ENST00000273283.2	+	11	1335	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	ITIH1_ENST00000537050.1_Silent_p.H149H|ITIH1_ENST00000542827.1_Silent_p.H437H|ITIH1_ENST00000540715.1_Silent_p.H295H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	437	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.H437H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTCGGCCACAATGTGGACT	0.577000													26	27					0	0	0.667858	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													6	57					0	0	0.217242	0	0
CXorf61	203413	broad.mit.edu	37	X	115593113	115593113	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:115593113G>T	ENST00000371894.4	-	2	283	c.137C>A	c.(136-138)tCt>tAt	p.S46Y		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	46						integral to membrane|plasma membrane		p.S46Y(2)		breast(1)|large_intestine(3)|lung(8)	12						AATTAACCCAGAAGAAGAGGG	0.398000													163	169					1.31883e-95	2.58281e-95	0.870114	1	0
SMEK1	55671	broad.mit.edu	37	14	91927780	91927780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:91927780C>A	ENST00000554684.1	-	14	2793	c.2297G>T	c.(2296-2298)gGc>gTc	p.G766V	SMEK1_ENST00000554943.1_Missense_Mutation_p.G779V|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000337238.4_Missense_Mutation_p.G766V|SMEK1_ENST00000428424.2_Missense_Mutation_p.G540V|SMEK1_ENST00000555462.1_Missense_Mutation_p.G540V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	779						microtubule organizing center|nucleus	protein binding	p.G779V(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAGGAGAGCCTGGAGATCC	0.488000													50	351					2.41709e-19	3.44435e-19	0.870114	1	0
OR5K3	403277	broad.mit.edu	37	3	98110266	98110266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:98110266C>A	ENST00000383695.1	+	1	757	c.757C>A	c.(757-759)Ctt>Att	p.L253I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L253I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGATTCCCTTCTCTTCAT	0.353000													163	614					6.85087e-58	1.26182e-57	0.870114	1	0
TCF7L2	6934	broad.mit.edu	37	10	114918424	114918424	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:114918424A>T	ENST00000545257.1	+	13	1825		c.e13-1		TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000538897.1_Splice_Site|TCF7L2_ENST00000534894.1_Splice_Site|TCF7L2_ENST00000542695.1_Splice_Site|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000369397.4_Splice_Site|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000352065.5_Splice_Site|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000355995.4_Splice_Site|TCF7L2_ENST00000355717.4_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTTTTTTTTCAGAACACAGCG	0.353000			T	VTI1A	colorectal								37	259					0	0	0.859065	0	0
TRAV4	28689	broad.mit.edu	37	14	22205254	22205254	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22205254C>A	ENST00000390426.2	+	0	385																											ACTACTGCCTCGTGGGTGACA	0.557000													12	46					0.0285812	0.0293398	0.500413	1	0
PUM2	23369	broad.mit.edu	37	2	20482749	20482749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:20482749C>T	ENST00000361078.2	-	11	1701	c.1679G>A	c.(1678-1680)gGt>gAt	p.G560D	PUM2_ENST00000338086.5_Missense_Mutation_p.G560D|PUM2_ENST00000319801.5_Missense_Mutation_p.G560D|PUM2_ENST00000403432.1_Missense_Mutation_p.G560D|PUM2_ENST00000536417.1_Missense_Mutation_p.G504D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	560	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.G560D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATAGCAGCACCCAAAGAGTT	0.428000													20	84					0	0	0.624587	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767848	54767848	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:54767848G>C	ENST00000546970.1	-	5	559	c.270C>G	c.(268-270)acC>acG	p.T90T	ZNF385A_ENST00000338010.5_Silent_p.T110T|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000352268.6_Silent_p.T110T|ZNF385A_ENST00000394313.2_Silent_p.T90T|ZNF385A_ENST00000551109.1_Silent_p.T90T|ZNF385A_ENST00000551771.1_Silent_p.T90T|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.T90T(4)|p.T110T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCTGCCTCTGGTCTTGGCAG	0.597000													12	22					0	0	0.557998	0	0
PHLDA1	22822	broad.mit.edu	37	12	76424788	76424788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:76424788C>A	ENST00000266671.5	-	1	2924	c.734G>T	c.(733-735)cGc>cTc	p.R245L	PHLDA1_ENST00000602540.1_Missense_Mutation_p.R104L|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	245	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.R245L(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTTGCCCTTGCGCTCCACACA	0.612000													39	39					4.14194e-30	6.63568e-30	0.859065	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75932301	75932301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:75932301T>A	ENST00000262207.4	+	12	1699	c.1231T>A	c.(1231-1233)Tca>Aca	p.S411T	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S225T|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S223T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	411	LCCL 2.					extracellular region		p.S411T(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAGCCTGCTTCACATTGCCC	0.413000													17	261					0	0	0.592651	0	0
TKTL2	84076	broad.mit.edu	37	4	164393898	164393898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:164393898G>T	ENST00000280605.3	-	1	1149	c.989C>A	c.(988-990)gCt>gAt	p.A330D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	330						cytoplasm	metal ion binding|transketolase activity	p.A330D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				gcccagtttagccagagccaa	0.428000													43	195					1.32667e-27	2.07029e-27	0.870114	1	0
HOXA1	3198	broad.mit.edu	37	7	27135327	27135327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27135327G>T	ENST00000343060.4	-	1	266	c.205C>A	c.(205-207)Cac>Aac	p.H69N	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.H69N	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	69	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H69N(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggtggtggtggtggtggtgg	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	15					0.0581538	0.0592479	0.335167	1	0
SZT2	23334	broad.mit.edu	37	1	43909130	43909130	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:43909130T>C	ENST00000562955.1	+	60	8436	c.8436T>C	c.(8434-8436)tcT>tcC	p.S2812S	SZT2_ENST00000372442.1_Silent_p.S1970S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2869						peroxisome		p.S1970S(4)|p.S2812S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGAGACCTCTGGACCCCCTG	0.612000													7	24					0	0	0.278610	0	0
OR6C1	390321	broad.mit.edu	37	12	55714510	55714510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55714510C>A	ENST00000379668.2	+	1	165	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43I(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAACCTGACCCTTATCACAAT	0.423000													66	85					2.23399e-28	3.52685e-28	0.870114	1	0
PKNOX2	63876	broad.mit.edu	37	11	125299921	125299921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:125299921C>A	ENST00000298282.9	+	12	1347	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.A295D	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	359						nucleus	sequence-specific DNA binding transcription factor activity	p.A359D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGATCCTGCCCCCAAAGCC	0.607000													25	219					3.73148e-12	4.77118e-12	0.717897	1	0
CTNND2	1501	broad.mit.edu	37	5	11346694	11346694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:11346694C>A	ENST00000304623.8	-	9	1607	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.G382V|CTNND2_ENST00000458100.2_Missense_Mutation_p.G40V|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G136V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.G473V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCTGGCTGCCTGTGCGCTG	0.617000													11	38					6.40141e-05	7.0598e-05	0.387290	1	0
RUVBL1	8607	broad.mit.edu	37	3	127842427	127842427	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:127842427C>A	ENST00000322623.5	-	1	240	c.141_splice	c.e1+1	p.E47_splice	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Splice_Site_p.E47_splice	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	47					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.E47D(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGGCCACACCTCTCGCGCGT	0.706000													12	26					0.000978159	0.00104575	0.387290	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159297	18159297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:18159297G>A	ENST00000396275.2	+	3	909	c.548G>A	c.(547-549)tGg>tAg	p.W183*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W183*(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACAATCGCGTGGCTGGTTTTT	0.512000													20	173					0	0	0.624587	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266036	89266036	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:89266036G>T	ENST00000464162.1	-	0	124																											ATGCAGACAGGGAGGATGGAG	0.468000													73	245					9.27813e-46	1.62856e-45	0.870114	1	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													4	97					0	0	0.217242	0	0
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:220752848G>A	ENST00000366918.4	+	2	801	c.204G>A	c.(202-204)aaG>aaA	p.K68K	MARK1_ENST00000366917.4_Silent_p.K68K|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.K68K(2)|p.K68N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAATAGGGAAGGGAAATTTTG	0.433000													11	228					0	0	0.479597	0	0
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:51143400G>T	ENST00000414786.2	+	16	2090	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G	SHANK3_ENST00000262795.3_Silent_p.G651G|SHANK3_ENST00000445220.2_Silent_p.G636G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	651								p.G651G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGAACGGGGTGAACGTGG	0.632000													6	26					0.00621372	0.00646441	0.335167	1	0
SLC25A13	10165	broad.mit.edu	37	7	95750587	95750587	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:95750587T>A	ENST00000416240.2	-	18	2137	c.1947A>T	c.(1945-1947)gcA>gcT	p.A649A	SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000265631.5_Silent_p.A648A|SLC25A13_ENST00000542654.1_Silent_p.A540A	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	648					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.A648A(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTTCAATCCCTGCAAATGTAG	0.498000													13	386					0	0	0.457914	0	0
LAMC3	10319	broad.mit.edu	37	9	133914297	133914297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:133914297G>T	ENST00000361069.4	+	5	1156	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	341	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity	p.E341D(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGATCGGGAGCTCTTCCGCA	0.617000													8	96					0.000978159	0.00104575	0.387290	1	0
CSMD2	114784	broad.mit.edu	37	1	34006151	34006151	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:34006151C>A	ENST00000373381.4	-	60	9781	c.9605G>T	c.(9604-9606)tGg>tTg	p.W3202L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3178	Sushi 26.					integral to membrane|plasma membrane	protein binding	p.W3058L(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCGGTCCAGGACCCATT	0.577000													13	161					1.49906e-05	1.67197e-05	0.457914	1	0
PHF14	9678	broad.mit.edu	37	7	11068427	11068427	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:11068427A>T	ENST00000403050.3	+	7	1889	c.1437A>T	c.(1435-1437)tcA>tcT	p.S479S	PHF14_ENST00000445996.2_Silent_p.S194S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	479							zinc ion binding	p.S479S(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCTGCTTTCAGAGGCAGCGG	0.433000													15	136					0	0	0.654019	0	0
C10orf82	143379	broad.mit.edu	37	10	118425181	118425181	+	Missense_Mutation	SNP	G	G	T	rs138140121	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:118425181G>T	ENST00000369210.3	-	3	266	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	C10orf82_ENST00000588184.1_Missense_Mutation_p.S71Y	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	71								p.S71Y(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CGTCTCCTCGGAGTTGACAGG	0.567000													18	40					6.44725e-10	7.81901e-10	0.624587	1	0
SLC6A19	340024	broad.mit.edu	37	5	1212589	1212589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:1212589C>T	ENST00000304460.10	+	4	709	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	218					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T218I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCGAGACCACCGGGAAG	0.672000													9	43					0	0	0.335167	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815927	106815927	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:106815927C>G	ENST00000390615.2	-	0	225																											GCCATAGCTACTGAAGGTGAA	0.577000													7	98					0	0	0.278610	0	0
TTBK1	84630	broad.mit.edu	37	6	43225570	43225570	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:43225570G>A	ENST00000259750.4	+	10	965	c.882G>A	c.(880-882)gaG>gaA	p.E294E	TTBK1_ENST00000304139.5_Silent_p.E243E	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	294	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E294E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CAGTGTTTGAGAACAGCATGA	0.602000													4	118					0	0	0.248553	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630332	51630332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51630332G>T	ENST00000440804.3	+	4	861	c.794G>T	c.(793-795)gGc>gTc	p.G265V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G265V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	265	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.G265V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCCCAGAGGGCCAGTCTCTG	0.542000													50	86					1.40369e-38	2.3679e-38	0.870114	1	0
EMILIN2	84034	broad.mit.edu	37	18	2891215	2891215	+	Nonsense_Mutation	SNP	G	G	T	rs150535335	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:2891215G>T	ENST00000254528.3	+	4	1249	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	364					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.G364*(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGCTACCTGGGAGTGATAGA	0.522000													12	39					0.000219431	0.000239561	0.457914	1	0
YARS2	51067	broad.mit.edu	37	12	32908775	32908775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:32908775C>A	ENST00000324868.8	-	1	61	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	12					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	p.G12C(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GACCACCGGCCCCAGGAAAAG	0.612000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	19					1.3612e-06	1.54851e-06	0.479597	1	0
CD244	51744	broad.mit.edu	37	1	160808305	160808305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160808305G>T	ENST00000368034.4	-	5	947	c.770C>A	c.(769-771)aCc>aAc	p.T257N	CD244_ENST00000368033.3_Missense_Mutation_p.T262N|CD244_ENST00000322302.7_Missense_Mutation_p.T165N|CD244_ENST00000368032.2_Missense_Mutation_p.T257N|CD244_ENST00000481677.1_5'UTR	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	262					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.T257N(2)|p.T262N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTGGGACTGGTCTCTGAGGG	0.488000													54	142					1.41401e-22	2.10506e-22	0.870114	1	0
ULK4	54986	broad.mit.edu	37	3	41860964	41860964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:41860964G>T	ENST00000301831.4	-	19	2261	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	600							ATP binding|protein serine/threonine kinase activity	p.A600D(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAGGGAACAGCCCAGCACTC	0.438000													29	338					3.90053e-15	5.2023e-15	0.760397	1	0
GALNT3	2591	broad.mit.edu	37	2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	545	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383000													16	513					0	0	0.575678	0	0
IGSF10	285313	broad.mit.edu	37	3	151164627	151164627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151164627C>A	ENST00000282466.3	-	4	3141	c.3142G>T	c.(3142-3144)Gaa>Taa	p.E1048*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1048					cell differentiation|multicellular organismal development|ossification	extracellular region		p.E1048*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCTTTTTTCAGAAGAACCT	0.493000													113	274					2.77834e-61	5.21481e-61	0.870114	1	0
SEC31A	22872	broad.mit.edu	37	4	83740390	83740390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:83740390G>T	ENST00000432794.1	-	28	3702	c.3539C>A	c.(3538-3540)aCc>aAc	p.T1180N	SEC31A_ENST00000326950.5_Missense_Mutation_p.T1128N|SEC31A_ENST00000509142.1_Missense_Mutation_p.T1053N|SEC31A_ENST00000395310.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000355196.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000508502.1_Missense_Mutation_p.T1152N|SEC31A_ENST00000348405.4_Missense_Mutation_p.T1128N|SEC31A_ENST00000505472.1_Missense_Mutation_p.T1198N|SEC31A_ENST00000505984.1_Missense_Mutation_p.T1113N|SEC31A_ENST00000311785.7_Missense_Mutation_p.T1053N|SEC31A_ENST00000448323.1_Missense_Mutation_p.T1167N|SEC31A_ENST00000264405.5_Missense_Mutation_p.T916N|SEC31A_ENST00000443462.2_Missense_Mutation_p.T1147N|SEC31A_ENST00000513858.1_Missense_Mutation_p.T1014N|SEC31A_ENST00000500777.2_Missense_Mutation_p.T1014N			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1167					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.T1167N(2)|p.T1180N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TAAACCACTGGTGATTGTTGG	0.393000													59	304					2.01178e-46	3.5427e-46	0.870114	1	0
TIMM17B	10245	broad.mit.edu	37	X	48751400	48751400	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48751400C>A	ENST00000396779.3	-	6	597	c.449G>T	c.(448-450)gGg>gTg	p.G150V	TIMM17B_ENST00000376582.3_Missense_Mutation_p.G100V|TIMM17B_ENST00000466995.1_5'UTR	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	100					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.G100V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CAGCACAGCCCCGGTCAATGC	0.642000													4	2					0.014758	0.0152218	0.184627	1	0
LGI3	203190	broad.mit.edu	37	8	22005801	22005801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:22005801C>A	ENST00000306317.2	-	8	1808	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.E483*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	507					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.E507*(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACAGCCAGCTCCTGGAACCGT	0.612000													5	21					3.59834e-05	3.97653e-05	0.217242	1	0
EBF2	64641	broad.mit.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:25744284C>G	ENST00000520164.1	-	10	1533	c.996G>C	c.(994-996)agG>agC	p.R332S	EBF2_ENST00000408929.3_Missense_Mutation_p.R184S|EBF2_ENST00000535548.1_Missense_Mutation_p.R63S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.R332S(5)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAAATGAACCTTCCTGGGG	0.483000													15	71					0	0	0.520397	0	0
ASPM	259266	broad.mit.edu	37	1	197070066	197070066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:197070066T>C	ENST00000367409.4	-	18	8571	c.8315A>G	c.(8314-8316)cAa>cGa	p.Q2772R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2772					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2772R(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGTGCAGATTGGTTAACAAT	0.383000													34	257					0	0	0.819951	0	0
LHX9	56956	broad.mit.edu	37	1	197890482	197890482	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:197890482C>A	ENST00000367390.3	+	4	426	c.399C>A	c.(397-399)gcC>gcA	p.A133A	LHX9_ENST00000337020.2_Silent_p.A142A|LHX9_ENST00000367391.1_Silent_p.A133A|LHX9_ENST00000367387.4_Silent_p.A142A|LHX9_ENST00000561173.1_Silent_p.A148A	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	142	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.A133A(2)|p.A142A(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCATTTCCGCCTCGGAGATGG	0.572000													12	72					2.61681e-11	3.26123e-11	0.457914	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356183	22356183	+	RNA	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22356183G>C	ENST00000390437.2	+	0	147																											TGTGGCTTCAGTTGAGCTGTG	0.363000													23	93					0	0	0.717897	0	0
GPR98	84059	broad.mit.edu	37	5	89986703	89986703	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:89986703G>T	ENST00000405460.2	+	31	6892	c.6796G>T	c.(6796-6798)Ggc>Tgc	p.G2266C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2266					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G2266C(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGACACTCGGCAATGTTAC	0.458000													7	34					0.00198382	0.00209607	0.248553	1	0
NETO1	81832	broad.mit.edu	37	18	70423369	70423369	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:70423369G>T	ENST00000327305.6	-	8	1539	c.882C>A	c.(880-882)ggC>ggA	p.G294G	NETO1_ENST00000583169.1_Silent_p.G294G|NETO1_ENST00000299430.2_Silent_p.G293G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	294	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G294G(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATGTGTTGCCTTCACAAG	0.343000													90	298					8.2166e-39	1.3904e-38	0.870114	1	0
NBAS	51594	broad.mit.edu	37	2	15417226	15417226	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:15417226C>A	ENST00000281513.5	-	43	5164		c.e43-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence									p.?(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTGGACAAACTGAAATTAAG	0.358000													10	79					0.000151284	0.000165831	0.435327	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:40702836C>T	ENST00000356699.5	+	4	522	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L165L(4)|p.L165M(2)									TCCTCAGGATCTGGCCTCCAC	0.587000													86	418					0	0	0.870114	0	0
APOB	338	broad.mit.edu	37	2	21245902	21245902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:21245902G>T	ENST00000233242.1	-	18	2744	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	873					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L873M(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGCCACCAGTTCAGCCTGC	0.473000													10	103					9.31168e-06	1.0472e-05	0.435327	1	0
COBL	23242	broad.mit.edu	37	7	51096651	51096651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:51096651C>A	ENST00000395542.2	-	12	2572	c.2388G>T	c.(2386-2388)aaG>aaT	p.K796N	COBL_ENST00000265136.7_Missense_Mutation_p.K714N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	714								p.K714N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCATCTCTGACTTTGGAGGAA	0.522000													42	70					1.51926e-22	2.25391e-22	0.870114	1	0
YTHDF2	51441	broad.mit.edu	37	1	29070324	29070324	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:29070324C>G	ENST00000373812.3	+	4	1904	c.1542C>G	c.(1540-1542)cgC>cgG	p.R514R	YTHDF2_ENST00000542507.1_Silent_p.R514R|YTHDF2_ENST00000541996.1_Silent_p.R464R|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	514	YTH.				humoral immune response			p.R514R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GACACATTCGCCTAGAGAACA	0.478000													10	95					0	0	0.387290	0	0
MX2	4600	broad.mit.edu	37	21	42771258	42771258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:42771258C>T	ENST00000330714.3	+	10	1592	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	470					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.Q470*(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACTAATACCCAAAAAGGTAA	0.443000													10	109					0	0	0.435327	0	0
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I|MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612000													19	200					0	0	0.575678	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:77745831G>A	ENST00000409088.3	-	3	1578	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	LRRTM4_ENST00000409911.1_Silent_p.T389T|LRRTM4_ENST00000409282.1_Silent_p.T389T|LRRTM4_ENST00000409093.1_Silent_p.T388T|LRRTM4_ENST00000409884.1_Silent_p.T388T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388						integral to membrane		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473000													16	58					0	0	0.575678	0	0
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:31810643C>T	ENST00000446923.2	+	7	2723	c.2332C>T	c.(2332-2334)Cca>Tca	p.P778S	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.P794S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P727S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P795S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P774S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	794					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P794S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGTAATCCCACCAAGTGC	0.453000													113	358					0	0	0.870114	0	0
NIPAL3	57185	broad.mit.edu	37	1	24785406	24785406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24785406G>T	ENST00000003912.3	+	10	1271	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	NIPAL3_ENST00000374399.4_Missense_Mutation_p.D268Y|NIPAL3_ENST00000339255.2_Missense_Mutation_p.D268Y			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	268						integral to membrane		p.D268Y(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						ACAGATGTACGACTCCTCTTT	0.468000													59	233					6.88731e-43	1.18963e-42	0.870114	1	0
FLG	2312	broad.mit.edu	37	1	152285480	152285480	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152285480G>C	ENST00000368799.1	-	3	1917	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	628	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q628E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTGACTGTCACTG	0.567000									Ichthyosis				104	230					0	0	0.870114	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130340820	130340820	+	Missense_Mutation	SNP	G	G	A	rs147190472		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:130340820G>A	ENST00000299164.2	+	6	1726	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	576	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G576R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTAGCCTCCGGAAAGAGCTT	0.602000													6	104					0	0	0.217242	0	0
CYP4F3	4051	broad.mit.edu	37	19	15759996	15759996	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:15759996G>T	ENST00000221307.7	+	6	600	c.552G>T	c.(550-552)gaG>gaT	p.E184D	CYP4F3_ENST00000586182.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.E184D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	184				EGS -> KGY (in Ref. 3; AAC08589).	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.E184D(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCTCAGAGGGTAGTGCCC	0.557000													55	166					4.10029e-35	6.74865e-35	0.870114	1	0
TNC	3371	broad.mit.edu	37	9	117826978	117826978	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117826978A>C	ENST00000350763.4	-	11	3846	c.3435T>G	c.(3433-3435)taT>taG	p.Y1145*	TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Nonsense_Mutation_p.Y1145*|TNC_ENST00000423613.2_Nonsense_Mutation_p.Y1145*|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1145	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.Y1145*(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCACCCCATAGATGGAGA	0.537000													65	571					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216496873	216496873	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216496873G>T	ENST00000366943.2	-	8	1879	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	USH2A_ENST00000307340.3_Missense_Mutation_p.T498N|USH2A_ENST00000366942.3_Missense_Mutation_p.T498N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	498	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T498N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTAACAGCAGTCTCAGTTGT	0.368000										HNSCC(13;0.011)			117	318					5.787e-82	1.11916e-81	0.870114	1	0
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:26688465G>C	ENST00000436292.1	-	7	1372	c.1252C>G	c.(1252-1254)Cgc>Ggc	p.R418G	ZNF683_ENST00000349618.3_Missense_Mutation_p.R398G|ZNF683_ENST00000374204.1_Missense_Mutation_p.R398G|ZNF683_ENST00000403843.1_Missense_Mutation_p.R418G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R398G(2)|p.R403G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAGTGCAGGCGCAGGTGGGTC	0.637000													10	33					0	0	0.435327	0	0
KDM3A	55818	broad.mit.edu	37	2	86718115	86718115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:86718115C>T	ENST00000409556.1	+	25	4050	c.3685C>T	c.(3685-3687)Caa>Taa	p.Q1229*	KDM3A_ENST00000542128.1_Nonsense_Mutation_p.Q1177*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.Q1229*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1229	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q1229*(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTATGGAGTTCAAGGCTGGGC	0.423000													58	520					0	0	0.870114	0	0
ELTD1	64123	broad.mit.edu	37	1	79402013	79402013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:79402013A>T	ENST00000370742.3	-	7	907	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	282					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F282I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTCTTTGGAAATATATTTATG	0.279000													29	232					0	0	0.812448	0	0
OR2T1	26696	broad.mit.edu	37	1	248569631	248569631	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248569631C>G	ENST00000366474.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCCTCCTCAGCCACC	0.438000													15	574					0	0	0.520397	0	0
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378000													33	74					0	0	0.834066	0	0
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173069G>A	ENST00000339582.2	-	9	3175	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	GRM8_ENST00000358373.3_Silent_p.T789T|GRM8_ENST00000444921.2_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATGCAGGTGGTATACATGG	0.408000										HNSCC(24;0.065)			17	193					0	0	0.592651	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897071	29897071	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:29897071C>T	ENST00000308713.5	-	8	1736		c.e8-1		SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.?(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCATCAGCCTGGGATGGAC	0.557000													3	40					0	0	0.184627	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757446	75757446	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:75757446G>T	ENST00000274364.6	+	2	395	c.98G>T	c.(97-99)cGg>cTg	p.R33L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	33					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.R33L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGAGGAGGCGGCAGAACATT	0.423000													64	247					1.36236e-49	2.42671e-49	0.870114	1	0
USP9X	8239	broad.mit.edu	37	X	41043661	41043661	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:41043661C>T	ENST00000324545.7	+	23	3924	c.3291C>T	c.(3289-3291)gcC>gcT	p.A1097A	USP9X_ENST00000378308.2_Silent_p.A1097A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1097					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.A1090A(2)|p.A1097A(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTATGCCTTGTTAATGC	0.398000													26	55					0	0	0.729181	0	0
HDAC4	9759	broad.mit.edu	37	2	240066294	240066294	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:240066294G>A	ENST00000345617.3	-	8	1641	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	HDAC4_ENST00000541256.1_Missense_Mutation_p.P253S|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	284	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P284S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACATCCAACGGACGCTTTTTT	0.577000													12	39					0	0	0.479597	0	0
SOX7	83595	broad.mit.edu	37	8	10690446	10690446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:10690446C>A	ENST00000553390.1	-	3	268	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	PINX1_ENST00000314787.3_Missense_Mutation_p.V60L|PINX1_ENST00000426190.2_Missense_Mutation_p.V58L|PINX1_ENST00000519088.1_Missense_Mutation_p.V60L|SOX7_ENST00000554914.1_Missense_Mutation_p.V60L|PINX1_ENST00000520018.2_5'UTR			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	0					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.V60L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TTATTTTTCACTTGAACTTTA	0.448000													4	34					0.00024832	0.000270011	0.150653	1	0
TMC6	11322	broad.mit.edu	37	17	76113395	76113395	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:76113395C>A	ENST00000590602.1	-	18	2391	c.2232G>T	c.(2230-2232)cgG>cgT	p.R744R	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Silent_p.R744R|TMC6_ENST00000322933.4_Silent_p.R323R|TMC6_ENST00000392467.3_Silent_p.R744R|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Silent_p.R323R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744						endoplasmic reticulum membrane|integral to membrane		p.R744R(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCGCTGGCCCCGCACCACCT	0.682000													9	17					3.03607e-14	3.99037e-14	0.411799	1	0
BRD8	10902	broad.mit.edu	37	5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:137476521C>T	ENST00000254900.5	-	26	3859	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1163	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R1163H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443000													34	890					0	0	0.769981	0	0
NBAS	51594	broad.mit.edu	37	2	15468435	15468435	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:15468435C>A	ENST00000281513.5	-	37	4374	c.4347_splice	c.e37-1	p.G1450_splice	NBAS_ENST00000441750.1_Splice_Site_p.G1330_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450								p.G1450V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACATTTTTGCCCCTaaaaaga	0.388000													101	540					8.60386e-38	1.44689e-37	0.870114	1	0
SERPINB12	89777	broad.mit.edu	37	18	61231212	61231212	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:61231212T>A	ENST00000382768.1	+	5	564	c.562_splice	c.e5-1	p.G188_splice	SERPINB12_ENST00000269491.1_Splice_Site_p.G168_splice			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	168					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTTTTAGGTAAAATCAAGG	0.353000													32	429					0	0	0.834066	0	0
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160811267C>A	ENST00000368034.4	-	3	565	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CD244_ENST00000368033.3_Nonsense_Mutation_p.E135*|CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Nonsense_Mutation_p.E130*	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	135				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015).	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.E130*(2)|p.E135*(2)|p.E130Q(1)|p.E135Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGGGTTTCTCAACTTTATCT	0.507000													21	111					3.62473e-10	4.41077e-10	0.608945	1	0
ASB15	142685	broad.mit.edu	37	7	123257663	123257663	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:123257663C>A	ENST00000451558.1	+	9	844	c.323C>A	c.(322-324)aCc>aAc	p.T108N	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.T108N|ASB15_ENST00000451215.1_Missense_Mutation_p.T108N|ASB15_ENST00000540573.1_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.T108N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAATTCAAGACCTGTGATGGA	0.383000													77	224					4.50305e-28	7.08838e-28	0.870114	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51914385	51914385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51914385G>A	ENST00000353836.5	-	10	1998	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q503*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q445*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q535*|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q630*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q545*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q510*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.Q688*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	688					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Q688*(2)|p.Q630*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAATCCGCCTGGGTGCCCTTG	0.562000													30	24					0	0	0.740014	0	0
GABRR1	2569	broad.mit.edu	37	6	89895078	89895078	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:89895078G>A	ENST00000435811.1	-	6	1150	c.696C>T	c.(694-696)ctC>ctT	p.L232L	GABRR1_ENST00000369451.3_Silent_p.L162L|GABRR1_ENST00000454853.2_Silent_p.L249L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	249					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L243L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATTCCTGAATGAGGAACTGGG	0.488000													13	414					0	0	0.435327	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963931	88963931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:88963931G>T	ENST00000333190.4	+	4	2244	c.1635G>T	c.(1633-1635)tgG>tgT	p.W545C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	545						intracellular	zinc ion binding	p.W545C(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCGGATTGGGAAAAATTCC	0.353000										HNSCC(36;0.09)			40	105					3.50607e-19	4.9765e-19	0.870114	1	0
ATP1A3	478	broad.mit.edu	37	19	42471882	42471882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:42471882C>A	ENST00000545399.1	-	21	3045	c.2892G>T	c.(2890-2892)gaG>gaT	p.E964D	ATP1A3_ENST00000543770.1_Missense_Mutation_p.E962D|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E951D|ATP1A3_ENST00000602133.1_Missense_Mutation_p.E921D	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	951					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E951D(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGCCGTCTCCTCAAACA	0.667000													9	28					1.05317e-09	1.26872e-09	0.457914	1	0
UPRT	139596	broad.mit.edu	37	X	74520800	74520800	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:74520800G>T	ENST00000373379.1	+	6	988	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C	UPRT_ENST00000530743.1_Splice_Site_p.G139_splice|UPRT_ENST00000373383.4_Splice_Site_p.G275_splice			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	275					nucleoside metabolic process	cytoplasm|nucleus		p.G275C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CACTCCTCATGGTGAGTTCAG	0.423000													6	212					2.7689e-08	3.24888e-08	0.248553	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73189085	73189085	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:73189085C>T	ENST00000545377.1	+	28	3806	c.3630C>T	c.(3628-3630)gcC>gcT	p.A1210A	ARHGEF28_ENST00000296799.4_Silent_p.A897A|ARHGEF28_ENST00000512883.1_Silent_p.A174A|ARHGEF28_ENST00000513042.2_Silent_p.A1210A|ARHGEF28_ENST00000426542.2_Silent_p.A1210A|ARHGEF28_ENST00000296794.6_Silent_p.A1210A|ARHGEF28_ENST00000287898.5_Silent_p.A1210A|ARHGEF28_ENST00000437974.1_Silent_p.A1210A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A174A(1)|p.A1210A(1)									AAGCTGAAGCCAGAGTGGCCA	0.473000													7	13					0	0	0.335167	0	0
BORA	79866	broad.mit.edu	37	13	73319235	73319235	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:73319235T>A	ENST00000390667.5	+	8	725	c.628T>A	c.(628-630)Tcg>Acg	p.S210T	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.S140T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	210	Ser-rich.		S -> L (in dbSNP:rs9543107).		cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	p.S210T(2)									CTCCTTACCTTCGGCTTCTCC	0.448000													25	207					0	0	0.812448	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500307	48500307	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:48500307C>A	ENST00000396577.3	+	2	606	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	SLC12A1_ENST00000380993.3_Missense_Mutation_p.L131M|SLC12A1_ENST00000558405.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000330289.6_Missense_Mutation_p.L131M|SLC12A1_ENST00000561031.1_Missense_Mutation_p.L131M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	131					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.L131M(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGACCCAGCCTGCTTGAGAT	0.468000													115	168					1.24568e-56	2.275e-56	0.870114	1	0
IGKV3D-15	28875	broad.mit.edu	37	2	90154121	90154121	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:90154121G>T	ENST00000417279.2	+	0	257																											CCTCATCTATGGTGCATCCAC	0.582000													26	73					6.1244e-12	7.76666e-12	0.834066	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734882	176734882	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:176734882C>G	ENST00000367662.3	+	15	5396	c.4232C>G	c.(4231-4233)tCt>tGt	p.S1411C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1411	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1411C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACTGTACCTCTATAGGCCCA	0.517000													40	808					0	0	0.864702	0	0
MMP9	4318	broad.mit.edu	37	20	44637627	44637627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:44637627C>T	ENST00000372330.3	+	1	81	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	21					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.P21L(2)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGCTGCCCCCAGACAGCGC	0.617000													6	14					0	0	0.217242	0	0
HNF4G	3174	broad.mit.edu	37	8	76472700	76472700	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:76472700C>A	ENST00000396423.2	+	9	1339	c.1216_splice	c.e9+1	p.I405_splice	HNF4G_ENST00000354370.1_Splice_Site_p.I368_splice	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	368					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.I405I(2)|p.I368I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGACCAGATCTGTAAGTTTA	0.363000													20	164					1.00905e-13	1.31504e-13	0.575678	1	0
LCE3D	84648	broad.mit.edu	37	1	152552359	152552359	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552359T>G	ENST00000368787.3	-	2	110	c.54A>C	c.(52-54)tcA>tcC	p.S18S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	18					keratinization			p.S18S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GACACTTGGGTGAGGGACACT	0.597000													55	191					0	0	0.870114	0	0
BCAS1	8537	broad.mit.edu	37	20	52591957	52591957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:52591957C>G	ENST00000395961.3	-	8	1319	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	BCAS1_ENST00000371435.2_Missense_Mutation_p.D385H|BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000434986.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	385						cytoplasm	protein binding	p.D385H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGACTGAGTCCTCTTTAACT	0.403000													14	118					0	0	0.539581	0	0
GARNL3	84253	broad.mit.edu	37	9	130073925	130073925	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130073925C>G	ENST00000373387.4	+	3	582	c.230C>G	c.(229-231)gCc>gGc	p.A77G	GARNL3_ENST00000314904.5_Missense_Mutation_p.A77G|GARNL3_ENST00000435213.2_Missense_Mutation_p.A55G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	77					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.A59G(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATGCAACTGCCCTGCCTGGT	0.413000													32	351					0	0	0.827153	0	0
OR2T34	127068	broad.mit.edu	37	1	248737445	248737445	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248737445T>A	ENST00000328782.2	-	1	635	c.614A>T	c.(613-615)tAc>tTc	p.Y205F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y205F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGCACAGGTACGTGAGCAT	0.527000													213	877					0	0	0.870114	0	0
NPY1R	4886	broad.mit.edu	37	4	164247270	164247270	+	Missense_Mutation	SNP	C	C	T	rs148479836		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:164247270C>T	ENST00000296533.2	-	2	968	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	146					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R146Q(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCACCCTCGAGGGTTGAT	0.423000													7	276					0	0	0.248553	0	0
CSMD3	114788	broad.mit.edu	37	8	113668510	113668510	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113668510T>A	ENST00000297405.5	-	18	3121	c.2877A>T	c.(2875-2877)tcA>tcT	p.S959S	CSMD3_ENST00000343508.3_Silent_p.S919S|CSMD3_ENST00000455883.2_Silent_p.S855S|CSMD3_ENST00000352409.3_Silent_p.S959S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	959	CUB 5.					integral to membrane|plasma membrane		p.S919S(2)|p.S959S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGCAAGGGTGACAGAAGAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	149					0	0	0.639603	0	0
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:28476668C>A	ENST00000373857.3	-	2	1499	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PTAFR_ENST00000305392.3_Missense_Mutation_p.D289Y|PTAFR_ENST00000539896.1_Missense_Mutation_p.D289Y	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.D289Y(2)|p.D289H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACAGGGTCTAAGACACAG	0.537000													15	110					1.99824e-07	2.30713e-07	0.520397	1	0
RDH16	8608	broad.mit.edu	37	12	57345827	57345827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:57345827C>A	ENST00000398138.3	-	4	1796	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	314					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.A314S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAGCCTTGGCCGGGCTTGGA	0.537000													34	46					8.16277e-20	1.16935e-19	0.827153	1	0
THEM4	117145	broad.mit.edu	37	1	151849531	151849531	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151849531C>T	ENST00000368814.3	-	5	977	c.628G>A	c.(628-630)Gtt>Att	p.V210I		NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	210					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTACAGGAAACAAAAAATTTC	0.368000													6	271					0	0	0.248553	0	0
ABCA4	24	broad.mit.edu	37	1	94574149	94574149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:94574149G>T	ENST00000370225.3	-	4	512	c.426C>A	c.(424-426)caC>caA	p.H142Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.H142Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	142					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H142Q(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTCCGGGTGAGTCCGGA	0.498000													52	138					9.77497e-20	1.39845e-19	0.870114	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432940	73432940	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:73432940C>G	ENST00000263666.4	-	10	2891	c.2777G>C	c.(2776-2778)cGc>cCc	p.R926P	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R583P|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R643P|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R583P|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R648P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	926							ubiquitin-protein ligase activity|zinc ion binding	p.R926P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGTCGCTGCGGATCTTCAC	0.667000													6	25					0	0	0.217242	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117174	109117174	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:109117174G>C	ENST00000261483.4	+	9	2504	c.1452G>C	c.(1450-1452)tcG>tcC	p.S484S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	484					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S484S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGGGCCAATCGATGTTCCCTG	0.378000													16	94					0	0	0.639603	0	0
PARP8	79668	broad.mit.edu	37	5	50091127	50091127	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:50091127G>A	ENST00000281631.5	+	12	1462	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	PARP8_ENST00000503750.2_Missense_Mutation_p.S435N|PARP8_ENST00000514067.2_Missense_Mutation_p.S435N|PARP8_ENST00000514342.2_Missense_Mutation_p.S188N|PARP8_ENST00000505697.2_Missense_Mutation_p.S435N|PARP8_ENST00000505554.1_Missense_Mutation_p.S414N|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	435						intracellular	NAD+ ADP-ribosyltransferase activity	p.S435N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTACTCCAGTGCCCCCAAG	0.443000													30	160					0	0	0.729181	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478264	14478264	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:14478264G>T	ENST00000581457.1	-	0	1644					NR_024076.1																						AGGTGGGAGAGTTGGACTCTG	0.488000													10	35					5.50884e-06	6.22114e-06	0.411799	1	0
MYB	4602	broad.mit.edu	37	6	135539023	135539023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:135539023C>A	ENST00000341911.5	+	16	2390	c.2191C>A	c.(2191-2193)Cct>Act	p.P731T	MYB_ENST00000534121.1_Missense_Mutation_p.P715T|MYB_ENST00000534044.1_Missense_Mutation_p.P573T|MYB_ENST00000525369.1_Missense_Mutation_p.P525T|MYB_ENST00000367814.4_Missense_Mutation_p.P610T|MYB_ENST00000316528.8_Missense_Mutation_p.P696T|MYB_ENST00000528774.1_Missense_Mutation_p.P728T|MYB_ENST00000442647.2_Missense_Mutation_p.P607T|MYB_ENST00000533624.1_Missense_Mutation_p.P575T|MYB_ENST00000531845.1_3'UTR	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	610					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.P731T(2)|p.P610T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCTGGGAACCTGCATCCTG	0.517000			T	NFIB	adenoid cystic carcinoma								102	266					2.11273e-47	3.72653e-47	0.870114	1	0
SEZ6L	23544	broad.mit.edu	37	22	26761403	26761403	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:26761403C>A	ENST00000529632.2	+	13	2861	c.2665C>A	c.(2665-2667)Cga>Aga	p.R889R	SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000248933.6_Silent_p.R889R|SEZ6L_ENST00000404234.3_Silent_p.R889R|SEZ6L_ENST00000402979.1_Silent_p.R662R|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Silent_p.R825R|SEZ6L_ENST00000411842.2_Silent_p.R86R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	889	Sushi 5.					endoplasmic reticulum membrane|integral to membrane		p.R889R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTGTACAAGCGACTCTACCT	0.547000													65	112					4.81439e-37	8.05872e-37	0.870114	1	0
ALPK2	115701	broad.mit.edu	37	18	56247124	56247124	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:56247124G>C	ENST00000361673.3	-	4	1097	c.884C>G	c.(883-885)cCc>cGc	p.P295R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	295							ATP binding|protein serine/threonine kinase activity	p.P295R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTGGGCTGGGTTGTTTGTT	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	111					0	0	0.248553	0	0
ZNF236	7776	broad.mit.edu	37	18	74617253	74617253	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:74617253G>T	ENST00000253159.8	+	13	2371	c.2173G>T	c.(2173-2175)Ggt>Tgt	p.G725C	ZNF236_ENST00000320610.9_Missense_Mutation_p.G727C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	725					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G725C(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTTCACTACTGGTGGCAGCTT	0.438000													4	63					3.59834e-05	3.97653e-05	0.217242	1	0
LAMC1	3915	broad.mit.edu	37	1	183090909	183090909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:183090909G>T	ENST00000258341.4	+	12	2299	c.2042G>T	c.(2041-2043)gGa>gTa	p.G681V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	681	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.G681V(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGGCCTGGAGTCCCTGCA	0.493000													60	173					5.44642e-36	9.03288e-36	0.870114	1	0
UGT2A1	10941	broad.mit.edu	37	4	70513291	70513291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:70513291C>A	ENST00000503640.1	-	1	127	c.72G>T	c.(70-72)ttG>ttT	p.L24F	UGT2A1_ENST00000286604.4_Missense_Mutation_p.L24F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L24F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	24					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.L24F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCAAATCAAAACATTCC	0.398000													25	132					0.000147802	0.000162342	0.706142	1	0
APOBR	55911	broad.mit.edu	37	16	28509228	28509228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:28509228G>T	ENST00000564831.1	+	2	2899	c.2866G>T	c.(2866-2868)Gca>Tca	p.A956S	APOBR_ENST00000328423.5_Missense_Mutation_p.A947S|APOBR_ENST00000431282.1_Missense_Mutation_p.A947S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	947	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.A947S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCAGGCCCCTGCAGAAGCTGC	0.667000													24	82					7.26314e-15	9.61612e-15	0.717897	1	0
SCRN1	9805	broad.mit.edu	37	7	29980415	29980415	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:29980415C>G	ENST00000426154.1	-	5	798	c.622G>C	c.(622-624)Gct>Cct	p.A208P	SCRN1_ENST00000242059.5_Missense_Mutation_p.A208P|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000409497.1_Missense_Mutation_p.A208P	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	208					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A228P(2)|p.A208P(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGGCTCTGAGCGTAACTCCTG	0.527000													31	154					0	0	0.847076	0	0
HEMGN	55363	broad.mit.edu	37	9	100693342	100693342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:100693342C>A	ENST00000259456.3	-	4	478	c.335G>T	c.(334-336)gGg>gTg	p.G112V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	112					cell differentiation|multicellular organismal development			p.G112V(2)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTTATGCTCCCAGGTGGCTC	0.423000													7	64					0.000157383	0.000171994	0.278610	1	0
HOXA2	3199	broad.mit.edu	37	7	27140626	27140626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27140626G>T	ENST00000222718.5	-	2	1160	c.850C>A	c.(850-852)Ctg>Atg	p.L284M		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	284						nucleus	sequence-specific DNA binding transcription factor activity	p.L284M(2)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAATGTTTCAGATTTTTCTCA	0.498000													20	77					2.39556e-15	3.20692e-15	0.639603	1	0
GPR139	124274	broad.mit.edu	37	16	20043655	20043655	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20043655G>T	ENST00000570682.1	-	2	764	c.464C>A	c.(463-465)aCc>aAc	p.T155N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155						integral to membrane|plasma membrane		p.T155N(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGGAAGCAGGTGATGTAAAC	0.522000													35	316					7.53189e-24	1.13608e-23	0.834066	1	0
LGALS9	3965	broad.mit.edu	37	17	25967657	25967657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:25967657C>T	ENST00000395473.2	+	3	1659	c.191C>T	c.(190-192)cCt>cTt	p.P64L	LGALS9_ENST00000448970.2_3'UTR|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000302228.5_Missense_Mutation_p.P64L|LGALS9_ENST00000313648.6_Missense_Mutation_p.P64L|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.P64L	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	64	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.P64L(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CACTTCAACCCTCGGTTTGAA	0.527000													17	55					0	0	0.575678	0	0
C9orf84	158401	broad.mit.edu	37	9	114538232	114538232	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:114538232G>T	ENST00000374287.3	-	5	349	c.89C>A	c.(88-90)aCc>aAc	p.T30N	C9orf84_ENST00000374283.5_Missense_Mutation_p.T94N|C9orf84_ENST00000318737.4_Missense_Mutation_p.T30N			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	30								p.T30N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAATCTGGGTCACCATTCT	0.318000													25	102					7.26314e-15	9.61612e-15	0.717897	1	0
VPS13C	54832	broad.mit.edu	37	15	62264919	62264919	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:62264919T>C	ENST00000261517.5	-	27	2735	c.2662A>G	c.(2662-2664)Act>Gct	p.T888A	VPS13C_ENST00000395896.4_Missense_Mutation_p.T888A|VPS13C_ENST00000395898.3_Missense_Mutation_p.T845A|VPS13C_ENST00000249837.3_Missense_Mutation_p.T845A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	888					protein localization			p.T888A(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTTACAAGTCTGTGGTTCT	0.348000													48	164					0	0	0.870114	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316550	38316550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:38316550G>T	ENST00000450935.2	+	3	508	c.430G>T	c.(430-432)Gca>Tca	p.A144S	SLC22A13_ENST00000311856.4_Silent_p.G236G			Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	314						integral to plasma membrane	organic cation transmembrane transporter activity	p.G236G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCCCTCGGGCAGATGGTGC	0.607000													46	126					9.57592e-29	1.51619e-28	0.870114	1	0
CROT	54677	broad.mit.edu	37	7	87011391	87011391	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:87011391G>T	ENST00000331536.3	+	12	1249	c.1062_splice	c.e12-1	p.G355_splice	CROT_ENST00000442291.1_Splice_Site_p.G355_splice|CROT_ENST00000419147.2_Splice_Site_p.G383_splice	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	355					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.G355V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TATTTTCAGGGTTCAGAGAAG	0.333000													88	170					3.59239e-61	6.73107e-61	0.870114	1	0
TMEM161B	153396	broad.mit.edu	37	5	87494880	87494880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:87494880C>A	ENST00000296595.6	-	10	1126	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMEM161B_ENST00000511218.1_Silent_p.L125L|TMEM161B_ENST00000506536.1_Silent_p.L152L|TMEM161B_ENST00000514135.1_Silent_p.L334L|TMEM161B_ENST00000512429.1_Silent_p.L323L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	334						integral to membrane		p.L334L(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATAAGCTTGCAGGTGACTAC	0.423000													13	34					4.7546e-09	5.67722e-09	0.500413	1	0
MYH1	4619	broad.mit.edu	37	17	10399714	10399714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:10399714G>T	ENST00000226207.5	-	34	4903	c.4809C>A	c.(4807-4809)agC>agA	p.S1603R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1603						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1603R(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCCAGTGTGCTCTGCATGG	0.448000													199	477					1.23147e-137	2.44264e-137	0.870114	1	0
DSCAML1	57453	broad.mit.edu	37	11	117387251	117387251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:117387251C>A	ENST00000321322.6	-	8	1895	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E362*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	572	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E632*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACAGGTACTCCCCCTCATCC	0.612000													12	19					4.3838e-07	5.04533e-07	0.435327	1	0
TSPAN12	23554	broad.mit.edu	37	7	120428789	120428789	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:120428789G>C	ENST00000222747.3	-	8	1382	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	TSPAN12_ENST00000415871.1_Missense_Mutation_p.Q259E	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	259					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GACATCATTTGGTCTGTCCCC	0.468000													11	639					0	0	0.411799	0	0
RBBP6	5930	broad.mit.edu	37	16	24578506	24578506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24578506G>C	ENST00000319715.4	+	15	2064	c.1632G>C	c.(1630-1632)agG>agC	p.R544S	RBBP6_ENST00000348022.2_Missense_Mutation_p.R544S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R544S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATCACAGAGGACTCAAGGCC	0.478000													41	144					0	0	0.870114	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617601	54617601	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:54617601A>T	ENST00000302287.3	+	4	778	c.372A>T	c.(370-372)ttA>ttT	p.L124F	VSTM2A_ENST00000407838.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000402613.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000404951.1_Missense_Mutation_p.L124F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.L123F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	124	Ig-like V-type.					extracellular region		p.L124F(2)|p.L123F(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGAAGGCTTATATGAGTGCA	0.468000													8	24					0	0	0.361761	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444315	5444315	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:5444315T>A	ENST00000300778.4	+	1	975	c.885T>A	c.(883-885)agT>agA	p.S295R	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S295R(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTTACAGTGTAAAGAACA	0.428000													23	162					0	0	0.667858	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766770	77766770	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77766770T>C	ENST00000521891.2	+	10	8061	c.7613T>C	c.(7612-7614)aTg>aCg	p.M2538T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M2522T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCCCTACATGATATTTGAC	0.547000										HNSCC(33;0.089)			92	460					0	0	0.870114	0	0
DGKB	1607	broad.mit.edu	37	7	14216490	14216490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:14216490C>A	ENST00000403951.2	-	25	2700	c.2281G>T	c.(2281-2283)Gag>Tag	p.E761*	DGKB_ENST00000407950.1_Nonsense_Mutation_p.E753*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.E742*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.E761*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.E761*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.E760*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.E761*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	761					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.E761*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATCCATGGCTCCCCATCAATT	0.393000													278	588					2.59131e-116	5.11182e-116	0.870114	1	0
ZMYND11	10771	broad.mit.edu	37	10	294355	294355	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:294355T>C	ENST00000309776.4	+	13	1735	c.1187T>C	c.(1186-1188)gTg>gCg	p.V396A	ZMYND11_ENST00000509513.2_Missense_Mutation_p.V435A|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000602682.1_Missense_Mutation_p.V351A|ZMYND11_ENST00000558098.2_Missense_Mutation_p.V436A|ZMYND11_ENST00000381604.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000545619.1_Missense_Mutation_p.V316A|ZMYND11_ENST00000402736.1_Missense_Mutation_p.V405A|ZMYND11_ENST00000381584.1_Missense_Mutation_p.V419A|ZMYND11_ENST00000381591.1_Missense_Mutation_p.V436A|ZMYND11_ENST00000381602.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000397959.3_Missense_Mutation_p.V351A|ZMYND11_ENST00000535374.1_Missense_Mutation_p.V231A|ZMYND11_ENST00000381607.4_Missense_Mutation_p.V342A|ZMYND11_ENST00000403354.1_Missense_Mutation_p.V356A|ZMYND11_ENST00000397962.3_Missense_Mutation_p.V436A	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	396					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V436A(4)|p.V396A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAGTCTCCGTGTCAACTCAG	0.498000													29	93					0	0	0.750413	0	0
KATNAL1	84056	broad.mit.edu	37	13	30801606	30801606	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:30801606T>C	ENST00000380615.3	-	9	1257	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I364V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	364						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.I364V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTCATCAATGTCCCACGGG	0.378000													72	394					0	0	0.870114	0	0
ISOC1	51015	broad.mit.edu	37	5	128440942	128440942	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:128440942G>A	ENST00000173527.5	+	3	510	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	165						peroxisome	catalytic activity	p.G165E(2)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		AAAGGTCTTGGGAGCACGGTT	0.383000													9	34					0	0	0.387290	0	0
ABCA13	154664	broad.mit.edu	37	7	48452087	48452087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:48452087G>T	ENST00000435803.1	+	41	12390	c.12366G>T	c.(12364-12366)aaG>aaT	p.K4122N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4122					transport	integral to membrane	ATP binding|ATPase activity	p.K4067N(2)|p.K4122N(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGACAAGGCCTGCTTGA	0.493000													63	324					1.07941e-43	1.87641e-43	0.870114	1	0
DNER	92737	broad.mit.edu	37	2	230341871	230341871	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:230341871A>G	ENST00000341772.4	-	7	1380	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	416	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C416R(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGACACTGGCAGGTGAATCCA	0.378000													17	66					0	0	0.834066	0	0
OR2G2	81470	broad.mit.edu	37	1	247752128	247752128	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247752128T>C	ENST00000320065.1	+	1	467	c.467T>C	c.(466-468)aTa>aCa	p.I156T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I156T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCAGTGGAATAGCCACCACC	0.547000													252	761					0	0	0.870114	0	0
FER1L6	654463	broad.mit.edu	37	8	125110055	125110055	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:125110055C>A	ENST00000522917.1	+	37	5020	c.4814C>A	c.(4813-4815)aCt>aAt	p.T1605N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T1605N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1605	C2 6.					integral to membrane		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCTGGAACACTGAAGATGTC	0.418000													145	237					2.89414e-53	5.22391e-53	0.870114	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:47846506C>G	ENST00000339488.4	-	3	2107	c.2074G>C	c.(2074-2076)Gtc>Ctc	p.V692L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	692						integral to membrane	hedgehog receptor activity	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453000													26	95					0	0	0.693898	0	0
CUL7	9820	broad.mit.edu	37	6	43020259	43020259	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:43020259C>A	ENST00000535468.1	-	2	510	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	CUL7_ENST00000265348.3_Missense_Mutation_p.G90W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	90					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGGAGGGCCCGATGACCTGG	0.587000													3	87					0.004672	0.00487454	0.115264	1	0
SLC22A6	9356	broad.mit.edu	37	11	62749428	62749428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62749428T>A	ENST00000377871.3	-	4	949	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.Y228F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.Y228F|SLC22A6_ENST00000458333.2_Missense_Mutation_p.Y228F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	228					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Y228F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGTAGACATAGCCAATCAA	0.592000													17	68					0	0	0.557998	0	0
MYOM3	127294	broad.mit.edu	37	1	24421441	24421441	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24421441A>T	ENST00000330966.7	-	9	995	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.L277Q|MYOM3_ENST00000329601.7_Missense_Mutation_p.L277Q			Q5VTT5	MYOM3_HUMAN	myomesin 3	277	Ig-like C2-type 2.							p.L277Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTGGCTTCAGCACCGAGGT	0.537000													32	45					0	0	0.853193	0	0
CHI3L2	1117	broad.mit.edu	37	1	111770280	111770280	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:111770280G>T	ENST00000445067.2	+	3	700		c.e3-1		CHI3L2_ENST00000369748.4_Intron|CHI3L2_ENST00000369744.2_5'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2						chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CTTTCGTGTAGGACAGGCTGT	0.493000													15	28					1.52009e-12	1.95054e-12	0.479597	1	0
LSAMP	4045	broad.mit.edu	37	3	115805319	115805319	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:115805319C>A	ENST00000490035.1	-	2	739	c.240G>T	c.(238-240)ctG>ctT	p.L80L	LSAMP_ENST00000539563.1_Silent_p.L77L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.L80L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCCGTGGGTCCAGAGACCACT	0.502000													41	186					6.87076e-12	8.70297e-12	0.870114	1	0
PDZD9	255762	broad.mit.edu	37	16	21999929	21999929	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21999929A>C	ENST00000286143.6	-	4	530	c.209T>G	c.(208-210)gTa>gGa	p.V70G	PDZD9_ENST00000424898.2_Missense_Mutation_p.V132G|PDZD9_ENST00000537222.2_Missense_Mutation_p.V72G			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	132	PDZ.							p.V70G(2)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TTACCTTGTTACTGGGAATTT	0.343000													29	82					0	0	0.740014	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481082	27481082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:27481082C>T	ENST00000233535.4	-	3	723	c.371G>A	c.(370-372)tGg>tAg	p.W124*	SLC30A3_ENST00000447008.2_Nonsense_Mutation_p.W119*	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	124					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.W124*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGAGCCAGAGGGAGAA	0.637000													7	22					0	0	0.307466	0	0
KCTD7	154881	broad.mit.edu	37	7	66264318	66264318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:66264318G>T	ENST00000380828.2	+	9	1011	c.857G>T	c.(856-858)cGc>cTc	p.R286L	KCTD7_ENST00000451741.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R260L|KCTD7_ENST00000510829.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R259L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R246L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R246L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGAGCCCTGCGCTGGGTTACG	0.493000													42	108					6.31075e-24	9.53214e-24	0.870114	1	0
RTTN	25914	broad.mit.edu	37	18	67718658	67718658	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:67718658G>A	ENST00000255674.6	-	39	5598	c.5312C>T	c.(5311-5313)aCa>aTa	p.T1771I	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1771							binding	p.T1771I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AATCGCCGCTGTCCAGTGCTT	0.453000													13	429					0	0	0.575678	0	0
SKAP2	8935	broad.mit.edu	37	7	26779578	26779578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:26779578G>A	ENST00000345317.2	-	5	626	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	105					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.Q105*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGAGGAAACTGGGCTCCTATG	0.388000													14	90					0	0	0.500413	0	0
IL27RA	9466	broad.mit.edu	37	19	14153294	14153294	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:14153294G>T	ENST00000263379.2	+	5	689	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	188	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.L188L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCATACCCCTGACCCCTGTTG	0.547000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	71					4.26978e-12	5.42106e-12	0.654019	1	0
PDILT	204474	broad.mit.edu	37	16	20380897	20380897	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20380897C>A	ENST00000302451.4	-	8	1281	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	345					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.A345S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGTACCTGGCGTCAGAGCTC	0.468000													48	330					4.88482e-21	7.11057e-21	0.870114	1	0
NEGR1	257194	broad.mit.edu	37	1	72400910	72400910	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:72400910C>A	ENST00000357731.4	-	2	500	c.261G>T	c.(259-261)gtG>gtT	p.V87V	NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Silent_p.V85V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	87	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane		p.V87V(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTCGAGGATCCACTGACCACT	0.433000													24	85					3.6726e-16	4.99677e-16	0.667858	1	0
ATP2A1	487	broad.mit.edu	37	16	28898990	28898990	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:28898990C>T	ENST00000395503.4	+	8	1059	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ATP2A1_ENST00000536376.1_Missense_Mutation_p.A167V|ATP2A1_ENST00000357084.3_Missense_Mutation_p.A292V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	292					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.A292V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TTCCGCGGGGCCATCTACTAC	0.547000													3	48					0	0	0.115264	0	0
KCNH1	3756	broad.mit.edu	37	1	211256166	211256166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:211256166C>A	ENST00000367007.4	-	5	683	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	KCNH1_ENST00000271751.4_Missense_Mutation_p.V172L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	172					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.V172L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTTTTTGCACGCTTGGAGCC	0.562000													130	300					6.47883e-55	1.17728e-54	0.870114	1	0
SNHG14	104472715	broad.mit.edu	37	15	25448271	25448271	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:25448271T>C	ENST00000424208.1	+	0	2117				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCTGGTGTGCTGAAGCTCAGG	0.647000													2	7					0	0	0.115264	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999351	27999351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:27999351G>T	ENST00000441525.1	-	1	215	c.101C>A	c.(100-102)gCg>gAg	p.A34E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	34								p.A34E(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGAGGAGGCCGCCGTCACCGC	0.562000													11	17					6.72482e-11	8.33293e-11	0.479597	1	0
SPTBN1	6711	broad.mit.edu	37	2	54893182	54893182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:54893182G>T	ENST00000356805.4	+	34	7071	c.6790G>T	c.(6790-6792)Gtg>Ttg	p.V2264L		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2264	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.V2264L(2)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCTGCGAAGTGGCCCTTGA	0.468000													29	349					3.67414e-24	5.58078e-24	0.760397	1	0
COL27A1	85301	broad.mit.edu	37	9	117027389	117027389	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117027389C>T	ENST00000356083.3	+	31	3729	c.3339_splice	c.e31+1	p.P1113_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1113	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1113L(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGCTTTCCTGTAAGTAGC	0.547000													26	46					0	0	0.667858	0	0
MICAL3	57553	broad.mit.edu	37	22	18301457	18301457	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:18301457C>A	ENST00000441493.2	-	26	4322	c.3970G>T	c.(3970-3972)Gtg>Ttg	p.V1324L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1324	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.V1324L(2)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AACTCCTCCACCAGGTCGCTC	0.662000													3	9					0.00024832	0.000270011	0.150653	1	0
CD5L	922	broad.mit.edu	37	1	157803126	157803126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:157803126T>A	ENST00000368174.4	-	5	991	c.895A>T	c.(895-897)Aaa>Taa	p.K299*		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	299	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.K299*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATAGCATTTCCGGTCTCTG	0.577000													66	183					0	0	0.870114	0	0
TRAV22	28661	broad.mit.edu	37	14	22539228	22539228	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22539228G>T	ENST00000390450.3	+	0	221																											GAGTCCTCCAGACCTGATTCT	0.463000													59	159					9.65139e-37	1.60807e-36	0.870114	1	0
PLCE1	51196	broad.mit.edu	37	10	96005858	96005858	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:96005858A>G	ENST00000260766.3	+	8	3210	c.2576A>G	c.(2575-2577)cAg>cGg	p.Q859R	PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551R|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859R|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATGTGCACCAGTTCCTGCTG	0.587000													79	89					0	0	0.870114	0	0
FAM120A	23196	broad.mit.edu	37	9	96318676	96318676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:96318676G>T	ENST00000277165.6	+	13	2481	c.2287G>T	c.(2287-2289)Gat>Tat	p.D763Y	FAM120A_ENST00000340893.4_Missense_Mutation_p.D763Y|FAM120A_ENST00000333936.5_Missense_Mutation_p.D791Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	763						cytoplasm|plasma membrane	RNA binding	p.D763Y(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGAACCTAGATCCCCGAGG	0.388000													6	94					0.00116845	0.0012394	0.217242	1	0
TTN	7273	broad.mit.edu	37	2	179592523	179592523	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179592523C>T	ENST00000589042.1	-	68	20006	c.19782G>A	c.(19780-19782)aaG>aaA	p.K6594K	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.K6277K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K5350K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6277	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K5350K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTATTGCCTTAAATTCCA	0.373000													64	152					0	0	0.870114	0	0
KIAA1109	84162	broad.mit.edu	37	4	123260563	123260563	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:123260563G>T	ENST00000264501.4	+	72	12725	c.12352_splice	c.e72+1	p.G4118_splice	KIAA1109_ENST00000388738.3_Splice_Site_p.G4118_splice			Q2LD37	K1109_HUMAN	KIAA1109	4118	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G4118C(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATACCAGGTATAGATAA	0.313000													15	45					4.14922e-12	5.28659e-12	0.500413	1	0
GABRE	2564	broad.mit.edu	37	X	151131077	151131077	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:151131077G>A	ENST00000393914.3	-	0	604				GABRE_ENST00000370325.1_Silent_p.Y127Y|GABRE_ENST00000370328.3_Silent_p.Y127Y			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y14Y(2)|p.Y127Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGTTCGTCGTACCAGGTCT	0.463000													11	209					0	0	0.457914	0	0
RNF17	56163	broad.mit.edu	37	13	25356050	25356050	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25356050G>A	ENST00000255324.5	+	6	631	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.Q193Q|RNF17_ENST00000255325.5_Silent_p.Q193Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	193					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q193Q(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGAGAAACAGTTTGACCAAC	0.328000													36	200					0	0	0.870114	0	0
OR2K2	26248	broad.mit.edu	37	9	114090593	114090593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:114090593C>T	ENST00000374428.1	-	1	207	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	OR2K2_ENST00000302681.1_Missense_Mutation_p.G41S			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41S(1)|p.G70S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTGCTGTTGCCCAAGAGCGTT	0.413000													18	473					0	0	0.624587	0	0
CDC73	79577	broad.mit.edu	37	1	193111176	193111176	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:193111176A>G	ENST00000367435.3	+	7	893	c.709A>G	c.(709-711)Atc>Gtc	p.I237V		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	237					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.I237V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACGAACAACTATCTTACAAAG	0.403000													14	200					0	0	0.592651	0	0
INTU	27152	broad.mit.edu	37	4	128632153	128632153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:128632153G>T	ENST00000335251.5	+	14	2558	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	819								p.E819*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TACCCTTGAAGAGGTGGCACA	0.418000													47	172					2.74695e-27	4.26822e-27	0.870114	1	0
OR1N2	138882	broad.mit.edu	37	9	125315646	125315646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:125315646C>G	ENST00000373688.2	+	1	256	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I66M(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGGCCATCAGCTCTGACC	0.527000													102	711					0	0	0.870114	0	0
NUGGC	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:27927077C>T	ENST00000413272.2	-	4	383	c.241G>A	c.(241-243)Gga>Aga	p.G81R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G81R(4)									TACTTGACTCCATTAGGGATG	0.413000													20	145					0	0	0.654019	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914953	94914953	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94914953G>T	ENST00000334708.3	-	2	223	c.159C>A	c.(157-159)acC>acA	p.T53T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	53					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T235T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATTGGTAATGGTGGGTGTGA	0.572000													135	509					1.12709e-80	2.17583e-80	0.870114	1	0
EXOC5	10640	broad.mit.edu	37	14	57684713	57684713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:57684713T>G	ENST00000413566.2	-	15	1959	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	EXOC5_ENST00000340918.7_Missense_Mutation_p.T469P	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	534					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		p.T536P(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCAATGCCAGTATCCAATTTC	0.289000													17	164					0	0	0.624587	0	0
OR4L1	122742	broad.mit.edu	37	14	20528425	20528425	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:20528425C>T	ENST00000315683.1	+	1	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGTCTCTCCACTGCCACAA	0.453000													49	392					0	0	0.870114	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													4	27					0	0	0.217242	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266601	113266601	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:113266601C>T	ENST00000369630.3	+	4	517	c.300C>T	c.(298-300)gaC>gaT	p.D100D	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region		p.D100D(2)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGTAGAGACCCTAGAGCTG	0.607000													6	41					0	0	0.248553	0	0
SPEF2	79925	broad.mit.edu	37	5	35779450	35779450	+	Splice_Site	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:35779450T>G	ENST00000440995.2	+	30	4432		c.e30+2		SPEF2_ENST00000303129.4_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCTAAAGGTAGGAAAAATA	0.388000													10	207					0	0	0.335167	0	0
PDS5B	23047	broad.mit.edu	37	13	33320130	33320130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33320130A>T	ENST00000315596.10	+	24	2814	c.2628A>T	c.(2626-2628)tcA>tcT	p.S876S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	876					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.S876S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGATATGTCACGTCTGAGAC	0.328000													21	266					0	0	0.729181	0	0
STAP1	26228	broad.mit.edu	37	4	68436840	68436840	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:68436840T>A	ENST00000265404.2	+	2	241	c.159T>A	c.(157-159)acT>acA	p.T53T	STAP1_ENST00000396225.1_Silent_p.T53T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	53	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm		p.T53T(2)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGGAACTACTCTTTTCTTTT	0.308000													142	369					0	0	0.870114	0	0
BRIP1	83990	broad.mit.edu	37	17	59760806	59760806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:59760806T>C	ENST00000259008.2	-	20	3868	c.3601A>G	c.(3601-3603)Att>Gtt	p.I1201V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1201					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.I1201V(4)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCTTCAATATGCAGAATT	0.303000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					50	83					0	0	0.870114	0	0
OR5D14	219436	broad.mit.edu	37	11	55563649	55563649	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:55563649C>T	ENST00000335605.1	+	1	618	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T206T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTTCGCCACCTTCAATGAGA	0.433000													27	323					0	0	0.750413	0	0
TESPA1	9840	broad.mit.edu	37	12	55356793	55356793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55356793G>A	ENST00000524622.1	-	7	1136	c.475C>T	c.(475-477)Cga>Tga	p.R159*	TESPA1_ENST00000532804.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000449076.1_Nonsense_Mutation_p.R297*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.R297*	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	297								p.R297*(2)|p.R159*(2)									GGCCGGTCTCGGGGGCATGTG	0.542000													97	145					0	0	0.870114	0	0
DNAH9	1770	broad.mit.edu	37	17	11622751	11622751	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:11622751C>T	ENST00000262442.3	+	27	5721	c.5653C>T	c.(5653-5655)Cgc>Tgc	p.R1885C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1885C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1885	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1885C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTGGGCCGCGCACTGGG	0.627000													4	104					0	0	0.184627	0	0
LCE3D	84648	broad.mit.edu	37	1	152552407	152552407	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552407G>T	ENST00000368787.3	-	2	62	c.6C>A	c.(4-6)tcC>tcA	p.S2S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization			p.S2S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TCTGCTGGCAGGACATCTTGG	0.547000													40	203					6.31075e-24	9.53214e-24	0.870114	1	0
SPRR1B	6699	broad.mit.edu	37	1	153005016	153005016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:153005016C>A	ENST00000307098.4	+	2	260	c.195C>A	c.(193-195)tgC>tgA	p.C65*	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C65*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCATGCCACCCCAAGG	0.617000													99	358					5.93169e-28	9.2967e-28	0.870114	1	0
TRPV5	56302	broad.mit.edu	37	7	142625790	142625790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142625790G>T	ENST00000265310.1	-	6	1106	c.758C>A	c.(757-759)aCt>aAt	p.T253N	TRPV5_ENST00000442623.1_Missense_Mutation_p.T253N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	253					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.T253N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTTACCACAGTGTTACCCTC	0.577000													8	36					0.00185496	0.00196184	0.435327	1	0
RP1	6101	broad.mit.edu	37	8	55538014	55538014	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:55538014T>G	ENST00000220676.1	+	4	1720	c.1572T>G	c.(1570-1572)gaT>gaG	p.D524E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	524					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D524E(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACAATGATCAAATGGAGG	0.348000													4	60					0	0	0.184627	0	0
FAM47C	442444	broad.mit.edu	37	X	37027514	37027514	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:37027514C>T	ENST00000358047.3	+	1	1083	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	344								p.P344L(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCACCCAGAGCCTCCC	0.622000													25	33					0	0	0.760397	0	0
FHL1	2273	broad.mit.edu	37	X	135288623	135288623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:135288623G>T	ENST00000543669.1	+	2	743	c.32G>T	c.(31-33)aGg>aTg	p.R11M	FHL1_ENST00000535737.1_Missense_Mutation_p.R11M|FHL1_ENST00000539015.1_Missense_Mutation_p.R40M|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394153.2_Missense_Mutation_p.R11M|FHL1_ENST00000370683.1_Missense_Mutation_p.R27M|FHL1_ENST00000394155.2_Missense_Mutation_p.R11M|FHL1_ENST00000345434.3_Missense_Mutation_p.R11M|FHL1_ENST00000370676.3_Missense_Mutation_p.R27M|FHL1_ENST00000370690.3_Missense_Mutation_p.R11M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	11					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.R11M(4)|p.R40M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CACTACTGCAGGGATCCCTTG	0.557000													117	179					1.21703e-59	2.26079e-59	0.870114	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616685	77616685	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77616685A>G	ENST00000521891.2	+	2	810	c.362A>G	c.(361-363)gAc>gGc	p.D121G	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D121G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D121G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D121G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D121G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTTAGAGGACAGTGACGTG	0.478000										HNSCC(33;0.089)			13	313					0	0	0.435327	0	0
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552000													66	85					4.09166e-32	6.61383e-32	0.870114	1	0
PPP3R2	5535	broad.mit.edu	37	9	104356802	104356802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:104356802G>T	ENST00000374806.1	-	1	481	c.411C>A	c.(409-411)gaC>gaA	p.D137E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	134	EF-hand 4.						calcium ion binding	p.D137E(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TGATGGTTTTGTCGACCAGCT	0.522000													11	80					9.70103e-10	1.17126e-09	0.361761	1	0
TDRD6	221400	broad.mit.edu	37	6	46657599	46657599	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:46657599G>T	ENST00000544460.1	+	1	1988	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	TDRD6_ENST00000316081.6_Silent_p.V578V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	578	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.V578V(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGAAAATGTGGACTGGTATG	0.433000													69	194					5.88917e-42	1.01238e-41	0.870114	1	0
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:10448802G>A	ENST00000245503.5	-	5	750	c.366C>T	c.(364-366)ttC>ttT	p.F122F	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.F122F|MYH2_ENST00000532183.1_Silent_p.F122F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	122	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F122F(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTGACACAGAAGAGACCTG	0.453000													23	65					0	0	0.667858	0	0
DSCAM	1826	broad.mit.edu	37	21	41725556	41725556	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41725556C>T	ENST00000400454.1	-	5	1247	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	257	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R257H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCAGCCAGCGGTAATCTGG	0.602000													4	67					0	0	0.248553	0	0
YIPF7	285525	broad.mit.edu	37	4	44626769	44626769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:44626769C>A	ENST00000332990.5	-	5	545	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	177						endoplasmic reticulum membrane|integral to membrane		p.G177C(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCACTCATGCCATACACATAA	0.478000													32	98					2.45108e-15	3.27718e-15	0.840704	1	0
AGXT2	64902	broad.mit.edu	37	5	34998886	34998886	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:34998886C>G	ENST00000231420.6	-	14	1683	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	495					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.D495H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACTGCAAAATCAACTTCTGGT	0.358000													12	644					0	0	0.520397	0	0
C7	730	broad.mit.edu	37	5	40964907	40964907	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:40964907T>A	ENST00000313164.9	+	14	2173	c.1814T>A	c.(1813-1815)cTt>cAt	p.L605H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	605	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.L605H(1)					Ovarian(839;0.0112)				GGATACTCTCTTATTGGAAAC	0.393000													41	857					0	0	0.864702	0	0
LZTS2	84445	broad.mit.edu	37	10	102763886	102763886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:102763886G>T	ENST00000370220.1	+	2	4094	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	LZTS2_ENST00000370223.3_Missense_Mutation_p.R344L			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	344					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.R344L(2)|p.R207L(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGCAGCTGCGGGACAGTCTG	0.622000													11	22					6.31663e-08	7.33216e-08	0.479597	1	0
ISLR	3671	broad.mit.edu	37	15	74467708	74467708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:74467708C>T	ENST00000249842.3	+	2	866	c.509C>T	c.(508-510)aCc>aTc	p.T170I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.T170I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	170					cell adhesion	extracellular region		p.T170I(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACCCCGCTCACCGCGCTGTCC	0.657000													15	29					0	0	0.575678	0	0
RAG1	5896	broad.mit.edu	37	11	36597537	36597537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:36597537G>T	ENST00000299440.5	+	2	2795	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	895					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V895L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGAAACCAGTATGGCGATC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				47	521					2.84144e-21	4.16411e-21	0.870114	1	0
AFF4	27125	broad.mit.edu	37	5	132270357	132270357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:132270357G>A	ENST00000265343.5	-	3	779	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Nonsense_Mutation_p.Q134*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	134	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.Q134*(2)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTCCGCTGGCTACTATGT	0.532000													41	95					0	0	0.834066	0	0
HYDIN	54768	broad.mit.edu	37	16	70908208	70908208	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:70908208C>A	ENST00000393567.2	-	64	11098	c.10948_splice	c.e64+1	p.A3650_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3650								p.A3601S(2)|p.A3649S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTCCCACCTGCCACCAAG	0.458000													36	242					2.56175e-15	3.42093e-15	0.870114	1	0
WDR36	134430	broad.mit.edu	37	5	110440497	110440497	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110440497A>T	ENST00000506538.2	+	9	1749	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	WDR36_ENST00000513710.2_Silent_p.G392G|WDR36_ENST00000505303.1_Silent_p.G336G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	392					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.G392G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACAGAATGGACAGCAGATTC	0.398000													47	488					0	0	0.870114	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067033	18067033	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:18067033T>A	ENST00000506618.2	-	1	453	c.373A>T	c.(373-375)Atc>Ttc	p.I125F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	125					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.I125F(4)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCATGGTGATGATATGATCC	0.463000													144	368					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478928	110478928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:110478928C>A	ENST00000378402.5	+	50	8639	c.8535C>A	c.(8533-8535)caC>caA	p.H2845Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2845					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.H2847Q(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGCTTTCACCGTTTAGCGT	0.438000										HNSCC(38;0.096)			50	93					5.66675e-16	7.69059e-16	0.870114	1	0
NDST4	64579	broad.mit.edu	37	4	115773883	115773883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:115773883G>C	ENST00000264363.2	-	8	2492	c.1814C>G	c.(1813-1815)aCa>aGa	p.T605R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	605	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T605R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGG	0.303000													24	71					0	0	0.667858	0	0
STEAP4	79689	broad.mit.edu	37	7	87913403	87913403	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:87913403C>T	ENST00000380079.4	-	2	283	c.182G>A	c.(181-183)gGt>gAt	p.G61D	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G61D|STEAP4_ENST00000301959.5_Missense_Mutation_p.G61D|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	61					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.G61D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GACTTCTGCACCACTGGGCAG	0.438000													20	128					0	0	0.639603	0	0
LRAT	9227	broad.mit.edu	37	4	155670250	155670250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155670250G>T	ENST00000336356.3	+	3	908	c.655G>T	c.(655-657)Gca>Tca	p.A219S	LRAT_ENST00000507827.1_Missense_Mutation_p.A219S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	219					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	p.A219S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TACCCTTCCTGCAATTTTTAT	0.393000													30	153					7.83172e-31	1.25842e-30	0.796494	1	0
CFHR4	10877	broad.mit.edu	37	1	196871741	196871741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196871741C>A	ENST00000367416.2	+	2	386	c.249C>A	c.(247-249)tgC>tgA	p.C83*	CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.C84*	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C83*(2)|p.C84*(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CGGTCCCATGCCTCAGTAAGT	0.348000													101	237					3.20437e-51	5.74558e-51	0.870114	1	0
DFNB31	25861	broad.mit.edu	37	9	117166348	117166348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117166348G>T	ENST00000362057.3	-	10	2414	c.2246C>A	c.(2245-2247)aCg>aAg	p.T749K	DFNB31_ENST00000374059.3_Missense_Mutation_p.T398K|DFNB31_ENST00000265134.6_Missense_Mutation_p.T366K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	749					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.T749K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGAGCGTAGAGGCTGC	0.632000													4	12					0.27861	0.281207	0.278610	1	0
PIP4K2B	8396	broad.mit.edu	37	17	36935738	36935738	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:36935738C>T	ENST00000269554.3	-	5	1032	c.552G>A	c.(550-552)ctG>ctA	p.L184L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	184	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	p.L184L(3)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTACATGCCCAGGAACTGTG	0.517000													67	671					0	0	0.870114	0	0
A1CF	29974	broad.mit.edu	37	10	52580401	52580401	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:52580401C>G	ENST00000395489.2	-	10	1153	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	A1CF_ENST00000395495.1_Missense_Mutation_p.E205Q|A1CF_ENST00000373995.3_Missense_Mutation_p.E268Q|A1CF_ENST00000373993.1_Missense_Mutation_p.E260Q|A1CF_ENST00000282641.2_Missense_Mutation_p.E260Q|A1CF_ENST00000374001.1_Missense_Mutation_p.E260Q|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Missense_Mutation_p.E260Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	260	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E260Q(2)|p.E268Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCACCCTCTCCACAGCACCT	0.388000													14	124					0	0	0.557998	0	0
C15orf60	283677	broad.mit.edu	37	15	73852136	73852136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:73852136C>A	ENST00000331090.6	+	6	708	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.S199Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	227								p.S227Y(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATGAACAATCTGCATGGGGT	0.463000													38	101					5.75399e-11	7.1545e-11	0.870114	1	0
FBXO40	51725	broad.mit.edu	37	3	121342078	121342078	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:121342078T>G	ENST00000338040.4	+	3	2216	c.1802T>G	c.(1801-1803)gTg>gGg	p.V601G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	601	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAGGTGTCTGTGCTGATGAGG	0.493000													5	242					0	0	0.248553	0	0
NLRP3	114548	broad.mit.edu	37	1	247587802	247587802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247587802G>T	ENST00000366497.2	+	4	1837	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V353L|NLRP3_ENST00000348069.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391827.2_Missense_Mutation_p.V353L|NLRP3_ENST00000336119.3_Missense_Mutation_p.V353L|NLRP3_ENST00000366496.2_Missense_Mutation_p.V353L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	353	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V353L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACGAGACCTGTGGCCCTGGA	0.557000													35	161					1.3203e-36	2.19645e-36	0.870114	1	0
KIAA1524	57650	broad.mit.edu	37	3	108278693	108278693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:108278693C>A	ENST00000295746.8	-	16	2000	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D483Y	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	642						cytoplasm|integral to membrane	protein binding	p.D642Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAAAGATCTTGTAGCCTG	0.353000													16	91					6.94344e-10	8.40195e-10	0.539581	1	0
SEMA3A	10371	broad.mit.edu	37	7	83640407	83640407	+	Splice_Site	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:83640407T>C	ENST00000265362.3	-	9	1240	c.925_splice	c.e9-1	p.Q309_splice	SEMA3A_ENST00000436949.1_Splice_Site_p.Q309_splice	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	309	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.Q309R(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAATACATCCTCTGTTTAAAA	0.313000													24	46					0	0	0.667858	0	0
AATF	26574	broad.mit.edu	37	17	35311178	35311178	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:35311178G>A	ENST00000225402.5	+	4	1054	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	268					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	p.G268D(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GACAAAGGTGGCCCAGAATTT	0.418000													11	119					0	0	0.435327	0	0
IPO8	10526	broad.mit.edu	37	12	30783888	30783888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:30783888G>T	ENST00000256079.4	-	25	3358	c.3020C>A	c.(3019-3021)gCa>gAa	p.A1007E	IPO8_ENST00000544829.1_Missense_Mutation_p.A802E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.A1007E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCTTCTTTGCCTCTAGCAT	0.398000													42	91					8.69298e-16	1.17242e-15	0.827153	1	0
DIO2	1734	broad.mit.edu	37	14	80669342	80669342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:80669342G>T	ENST00000557010.1	-	4	897	c.512C>A	c.(511-513)gCg>gAg	p.A171E	DIO2_ENST00000555750.1_Missense_Mutation_p.A207E|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A171E|DIO2_ENST00000557125.1_Silent_p.R46R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	171					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.A207E(2)|p.A171E(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCGGTATCGCCCAGCCATC	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	128					3.73988e-18	5.26012e-18	0.706142	1	0
ELF1	1997	broad.mit.edu	37	13	41507884	41507884	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:41507884G>C	ENST00000239882.3	-	9	1851	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q489E	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	513					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q513E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAATGGTCTGAACATTGCTA	0.517000													18	142					0	0	0.539581	0	0
SYTL2	54843	broad.mit.edu	37	11	85459316	85459316	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:85459316T>A	ENST00000316356.4	-	3	816	c.253_splice	c.e3+1	p.A84_splice	SYTL2_ENST00000389960.4_Splice_Site_p.A84_splice|SYTL2_ENST00000527523.1_Splice_Site_p.A36_splice|SYTL2_ENST00000524452.1_Splice_Site_p.A84_splice|SYTL2_ENST00000528231.1_Splice_Site_p.A84_splice			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	84					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.A84A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCAACTCACCTGCTATCTGGG	0.468000													120	233					0	0	0.870114	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555000	22555000	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22555000G>A	ENST00000390451.2	+	0	171																											TGATAGTCCAGAAAGGAGGGA	0.428000													9	65					0	0	0.361761	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213592	1213592	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:1213592C>A	ENST00000304460.10	+	5	734	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	226					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T226T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTACATCACCTCCACGCTGC	0.657000													3	15					0.00024832	0.000270011	0.150653	1	0
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:117718572G>A	ENST00000317775.6	-	8	2167	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.D494D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617000													8	79					0	0	0.335167	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396906	36396906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:36396906C>A	ENST00000317020.6	-	2	619	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000297063.6_Missense_Mutation_p.V158L|KIAA0895_ENST00000440378.1_Missense_Mutation_p.V107L|KIAA0895_ENST00000338533.5_Missense_Mutation_p.V145L|KIAA0895_ENST00000436884.1_Missense_Mutation_p.V7L|KIAA0895_ENST00000415803.2_Missense_Mutation_p.V145L	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	158								p.V158L(2)|p.V145L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCTTGTCACAGGCACCAGG	0.473000													19	60					4.26978e-12	5.42106e-12	0.654019	1	0
CNTN2	6900	broad.mit.edu	37	1	205030382	205030382	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:205030382C>A	ENST00000331830.4	+	8	1091	c.807C>A	c.(805-807)ccC>ccA	p.P269P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	269	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P269P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCTGTCCCCCGGATCAAGT	0.652000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	34					6.49762e-13	8.38727e-13	0.539581	1	0
MUC17	140453	broad.mit.edu	37	7	100680895	100680895	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100680895A>C	ENST00000306151.4	+	3	6262	c.6198A>C	c.(6196-6198)acA>acC	p.T2066T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2066	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2066T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.488000													53	263					0	0	0.870114	0	0
SETBP1	26040	broad.mit.edu	37	18	42533120	42533120	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:42533120G>C	ENST00000282030.5	+	4	4111	c.3815G>C	c.(3814-3816)aGc>aCc	p.S1272T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1272						nucleus	DNA binding	p.S1218T(2)|p.S1272T(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGGTGGCAGCACGAGATCA	0.532000									Schinzel-Giedion syndrome				33	105					0	0	0.769981	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162774	33162774	+	RNA	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:33162774A>C	ENST00000510327.1	-	0	346																											AGTCTCCTGGAAGAGCAGTTC	0.453000													14	56					0	0	0.435327	0	0
LOXL4	84171	broad.mit.edu	37	10	100017495	100017495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:100017495G>T	ENST00000260702.3	-	8	1322	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	391	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.P391H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TTCCAGGGCAGGGCAGTCGCT	0.582000													27	47					3.09479e-21	4.52926e-21	0.827153	1	0
UCMA	221044	broad.mit.edu	37	10	13264144	13264144	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:13264144C>A	ENST00000378681.3	-	5	448	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	UCMA_ENST00000463405.2_Missense_Mutation_p.G104C	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	126						proteinaceous extracellular matrix		p.G126C(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGGTGCAGGCCGTCATAGTGC	0.587000													16	69					3.32936e-07	3.83585e-07	0.539581	1	0
GPR63	81491	broad.mit.edu	37	6	97246908	97246908	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97246908T>G	ENST00000229955.3	-	2	1045	c.700A>C	c.(700-702)Aca>Cca	p.T234P	GPR63_ENST00000417980.1_Missense_Mutation_p.T234P	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	234						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.T234P(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGATTGGTTGTGTACCCAAAC	0.448000													56	186					0	0	0.870114	0	0
RIMS1	22999	broad.mit.edu	37	6	72806785	72806785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:72806785G>T	ENST00000264839.7	+	3	379	c.379G>T	c.(379-381)Ggg>Tgg	p.G127W	RIMS1_ENST00000517960.1_Missense_Mutation_p.G127W|RIMS1_ENST00000520567.1_Missense_Mutation_p.G127W|RIMS1_ENST00000348717.5_Missense_Mutation_p.G127W|RIMS1_ENST00000521978.1_Missense_Mutation_p.G127W|RIMS1_ENST00000518273.1_Missense_Mutation_p.G127W|RIMS1_ENST00000491071.2_Missense_Mutation_p.G127W|RIMS1_ENST00000522291.1_Missense_Mutation_p.G127W			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	127	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G127W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTTTGCTGATGGGTGCGGTCA	0.507000													35	93					1.60099e-16	2.19755e-16	0.804634	1	0
DIP2C	22982	broad.mit.edu	37	10	409175	409175	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:409175C>T	ENST00000280886.6	-	21	2641	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.E173K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	852						nucleus	catalytic activity|transcription factor binding	p.E852K(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTCCTCTTCCGTGGAGTCA	0.607000													17	35					0	0	0.575678	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986279	51986279	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51986279G>C	ENST00000396477.4	+	4	703	c.682G>C	c.(682-684)Gac>Cac	p.D228H	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D289H	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	289						integral to membrane		p.D289H(2)|p.D228H(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGGGCCCGACTATGTGCT	0.552000													76	214					0	0	0.870114	0	0
KLHL6	89857	broad.mit.edu	37	3	183209920	183209920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:183209920G>C	ENST00000341319.3	-	7	1696	c.1661C>G	c.(1660-1662)gCg>gGg	p.A554G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	554								p.A554G(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTGCAGGGCGCGATACCGCA	0.657000													17	39					0	0	0.654019	0	0
SMC1B	27127	broad.mit.edu	37	22	45802673	45802673	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:45802673T>A	ENST00000357450.4	-	3	371	c.372A>T	c.(370-372)atA>atT	p.I124I	SMC1B_ENST00000404354.3_Silent_p.I124I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	124					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.I124I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATTATGCCTATCTTTTCCA	0.299000													28	90					0	0	0.834066	0	0
CSMD3	114788	broad.mit.edu	37	8	113299394	113299394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113299394G>A	ENST00000297405.5	-	58	9474	c.9230C>T	c.(9229-9231)aCt>aTt	p.T3077I	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22.					integral to membrane|plasma membrane		p.T3037I(1)|p.T3077I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAACGTACAGTACTTTTAGT	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	374					0	0	0.435327	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33631016	33631016	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:33631016G>A	ENST00000504830.1	-	13	2226	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H631Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACAAGGATGTGCTGAAGGG	0.488000										HNSCC(64;0.19)			15	451					0	0	0.575678	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049651	69049651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:69049651C>A	ENST00000295381.3	+	10	1796	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S452R|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.S420R|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.S153R|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S460R|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S453R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S453R(2)|p.S460R(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCCAACAGCAGCAAAATGG	0.478000													26	162					2.47511e-08	2.91047e-08	0.729181	1	0
KDM4A	9682	broad.mit.edu	37	1	44137514	44137514	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:44137514G>A	ENST00000372396.3	+	11	1836	c.1702G>A	c.(1702-1704)Gct>Act	p.A568T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	568					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.A568T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGGAAGCGCCGCTAGAAGTTT	0.612000													6	187					0	0	0.248553	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89196831	89196831	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:89196831C>G	ENST00000390244.2	+	0	84																											AGGTTCACCTCCTCAGCTTCC	0.453000													12	41					0	0	0.479597	0	0
FAM135B	51059	broad.mit.edu	37	8	139209901	139209901	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:139209901G>A	ENST00000395297.1	-	8	851	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	227								p.Y227Y(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGAGGTGATGTAGAAGCTTC	0.582000										HNSCC(54;0.14)			32	168					0	0	0.788014	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505620	44505620	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:44505620C>T	ENST00000255152.2	+	2	632	c.423C>T	c.(421-423)gcC>gcT	p.A141A	ZSWIM3_ENST00000454862.2_Silent_p.A135A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	141							zinc ion binding	p.A141A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTGACACTGCCGAGAAGTCCC	0.517000													6	78					0	0	0.217242	0	0
GMEB1	10691	broad.mit.edu	37	1	29041146	29041146	+	Missense_Mutation	SNP	C	C	T	rs148243859		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:29041146C>T	ENST00000373816.1	+	10	1691	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	GMEB1_ENST00000361872.4_Missense_Mutation_p.P518L|GMEB1_ENST00000294409.2_Missense_Mutation_p.P528L|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	p.P518L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGCCCCGGACCCAGAA	0.532000													9	112					0	0	0.361761	0	0
OR4D5	219875	broad.mit.edu	37	11	123810656	123810656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:123810656G>T	ENST00000307033.2	+	1	407	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K111N(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGGCATCAAGATCTTCCTGC	0.498000													155	239					4.71032e-111	9.27505e-111	0.870114	1	0
INSL5	10022	broad.mit.edu	37	1	67266839	67266839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:67266839G>T	ENST00000304526.2	-	1	100	c.66C>A	c.(64-66)agC>agA	p.S22R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	22						extracellular region	hormone activity	p.S22R(2)		breast(2)|endometrium(1)|lung(5)	8						CAGACTCCTTGCTCCGCACTT	0.463000													74	148					4.38691e-48	7.78856e-48	0.870114	1	0
FUT8	2530	broad.mit.edu	37	14	66135974	66135974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:66135974G>C	ENST00000360689.5	+	7	2338	c.611G>C	c.(610-612)tGc>tCc	p.C204S	FUT8_ENST00000394586.2_Missense_Mutation_p.C204S|FUT8_ENST00000557164.1_Missense_Mutation_p.C41S|FUT8_ENST00000358307.2_Missense_Mutation_p.C75S|FUT8_ENST00000394585.1_Missense_Mutation_p.C204S|FUT8_ENST00000554765.1_3'UTR	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	204					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.C204S(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCAAGGACTGCAGCAAAGCC	0.408000													24	81					0	0	0.706142	0	0
C8B	732	broad.mit.edu	37	1	57409484	57409484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:57409484G>T	ENST00000543257.1	-	9	1529	c.963C>A	c.(961-963)aaC>aaA	p.N321K	C8B_ENST00000535057.1_Missense_Mutation_p.N311K|C8B_ENST00000371237.4_Missense_Mutation_p.N373K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	373	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.N373K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATGGACGTTGTTAAGAGTAT	0.438000													52	296					4.63999e-43	8.02732e-43	0.870114	1	0
IPO8	10526	broad.mit.edu	37	12	30837234	30837234	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:30837234C>A	ENST00000256079.4	-	3	662		c.e3+1			NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCACCACATACCTCACTAAAT	0.398000													66	168					5.04879e-28	7.9244e-28	0.870114	1	0
PALD1	27143	broad.mit.edu	37	10	72293678	72293678	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:72293678G>T	ENST00000263563.6	+	8	1139	c.870_splice	c.e8-1	p.E291_splice		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.E291*(2)									TCTTTCCCAGGAGACCCCCAG	0.652000													5	49					0.000602214	0.000647665	0.184627	1	0
FAM65B	9750	broad.mit.edu	37	6	24843104	24843104	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24843104C>G	ENST00000259698.4	-	14	2081	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000540914.1_Missense_Mutation_p.D586H|FAM65B_ENST00000538035.1_Missense_Mutation_p.D615H|FAM65B_ENST00000510784.2_Missense_Mutation_p.D620H|FAM65B_ENST00000378023.4_Missense_Mutation_p.D586H	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	636					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.D586H(2)|p.D636H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGAATATCATCCAAATTCATG	0.343000													11	42					0	0	0.387290	0	0
NUGGC	389643	broad.mit.edu	37	8	27888782	27888782	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:27888782T>C	ENST00000413272.2	-	15	2028	c.1886A>G	c.(1885-1887)aAa>aGa	p.K629R	NUGGC_ENST00000341513.6_Missense_Mutation_p.K629R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.K629R(4)									GAAATTTTTTTTGCAGCTATC	0.453000													54	343					0	0	0.870114	0	0
CUBN	8029	broad.mit.edu	37	10	17169920	17169920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:17169920G>A	ENST00000377833.4	-	3	321	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CUBN_ENST00000377823.1_Nonsense_Mutation_p.Q86*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	86					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTTTTCTGGATCTAATTT	0.284000													9	70					0	0	0.361761	0	0
OR8B12	219858	broad.mit.edu	37	11	124413479	124413479	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:124413479G>T	ENST00000306842.2	-	1	96	c.72C>A	c.(70-72)atC>atA	p.I24I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I24I(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAGAGGGGGATCCGCAGTC	0.547000													124	173					2.42353e-96	4.75487e-96	0.870114	1	0
SCN11A	11280	broad.mit.edu	37	3	38936055	38936055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:38936055T>A	ENST00000302328.3	-	15	3002	c.2804A>T	c.(2803-2805)cAg>cTg	p.Q935L	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q935L|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q935L|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q935L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	935					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q935L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGATGCGCTGTGCATTATC	0.488000													23	1187					0	0	0.520397	0	0
USP34	9736	broad.mit.edu	37	2	61505418	61505418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:61505418C>A	ENST00000398571.2	-	41	5391	c.5315G>T	c.(5314-5316)aGg>aTg	p.R1772M		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1772					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R1772M(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGGATCTCCCTACTACAAAA	0.338000													27	81					1.61788e-16	2.21793e-16	0.760397	1	0
BAGE2	85319	broad.mit.edu	37	21	11039168	11039168	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:11039168G>A	ENST00000470054.1	-	0	1035									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGACACTAAGGTTTCTAGTGG	0.408000													23	866					0	0	0.667858	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690476	77690476	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77690476C>A	ENST00000521891.2	+	4	3574	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P	ZFHX4_ENST00000050961.6_Silent_p.P1016P|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.P1016P|ZFHX4_ENST00000518282.1_Silent_p.P1016P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGAATCCCGAATCCTGCT	0.483000										HNSCC(33;0.089)			195	337					3.39112e-68	6.46581e-68	0.870114	1	0
TENM4	26011	broad.mit.edu	37	11	78468036	78468036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:78468036C>A	ENST00000278550.7	-	19	3032	c.2570G>T	c.(2569-2571)tGc>tTc	p.C857F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.C857F(4)									CTGGAGGCAGCAGTCAGGGTC	0.537000													20	23					4.72057e-08	5.5031e-08	0.667858	1	0
HYDIN	54768	broad.mit.edu	37	16	70897063	70897063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:70897063G>T	ENST00000393567.2	-	68	11644	c.11494C>A	c.(11494-11496)Cgt>Agt	p.R3832S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3832								p.R3831S(2)|p.R3783S(2)|p.R3831C(1)|p.R3783C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTGGACACGTCCTGAATTA	0.463000													31	195					2.05212e-20	2.96722e-20	0.812448	1	0
OR2W3	343171	broad.mit.edu	37	1	248059622	248059622	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248059622T>A	ENST00000537741.1	+	3	991	c.734T>A	c.(733-735)cTc>cAc	p.L245H	OR2W3_ENST00000360358.3_Missense_Mutation_p.L245H			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245H(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCCATCTCACTGTGGTC	0.512000													14	388					0	0	0.457914	0	0
ZNF713	349075	broad.mit.edu	37	7	55991322	55991322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:55991322G>T	ENST00000429591.2	+	3	236	c.198G>T	c.(196-198)gaG>gaT	p.E66D	MRPS17_ENST00000426595.1_Missense_Mutation_p.E66D|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E66D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			gtaagccaGAGGTAATCGCGC	0.453000													13	73					1.3612e-06	1.54851e-06	0.479597	1	0
METTL4	64863	broad.mit.edu	37	18	2566948	2566948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:2566948G>A	ENST00000319888.6	-	2	1066	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL4_ENST00000574538.1_Missense_Mutation_p.P90S			Q8N3J2	METL4_HUMAN	methyltransferase like 4	90					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.P90S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAGTTCAGGTCGAAAAACA	0.368000													50	219					0	0	0.870114	0	0
IL17F	112744	broad.mit.edu	37	6	52109223	52109223	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:52109223G>T	ENST00000336123.4	-	1	112	c.5C>A	c.(4-6)aCa>aAa	p.T2K		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	2					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.T2K(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GGTCTTCACTGTCATGTTGCG	0.448000													9	277					0.00136819	0.00144844	0.411799	1	0
SCAF11	9169	broad.mit.edu	37	12	46320773	46320773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:46320773C>A	ENST00000465950.1	-	1	2975	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V	SCAF11_ENST00000369367.3_Missense_Mutation_p.G904V|SCAF11_ENST00000549162.1_Missense_Mutation_p.G712V|SCAF11_ENST00000419565.2_Missense_Mutation_p.G904V			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	904					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.G904V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTCTCCTGGGGAAGA	0.458000													126	159					1.06126e-43	1.84782e-43	0.870114	1	0
PDGFA	5154	broad.mit.edu	37	7	540753	540753	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:540753C>A	ENST00000402802.3	-	5	987	c.580_splice	c.e5+1	p.D194_splice	PDGFA_ENST00000354513.5_Splice_Site_p.G194_splice	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	0					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.G194*(2)|p.D194Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		AGCCACTCACCCGTGTCCTCT	0.552000													11	77					0.0809354	0.0823806	0.387290	1	0
OR2T8	343172	broad.mit.edu	37	1	248084416	248084416	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248084416G>T	ENST00000319968.4	+	1	97	c.97G>T	c.(97-99)Gtt>Ttt	p.V33F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGAGTATCGTTTTGACCTC	0.483000													32	212					1.8453e-21	2.71899e-21	0.853193	1	0
NRSN1	140767	broad.mit.edu	37	6	24134721	24134721	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24134721A>T	ENST00000378491.4	+	3	467	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	NRSN1_ENST00000378475.1_Missense_Mutation_p.R56W|NRSN1_ENST00000378478.1_Missense_Mutation_p.R56W	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	56					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.R56W(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTAACAGGTGGAGCTC	0.453000													22	101					0	0	0.729181	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377943	48377943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:48377943A>T	ENST00000222002.3	-	5	855	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	239					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.V239E(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTTGTCCACTACATAATCAAC	0.403000													31	84					0	0	0.812448	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432850	73432850	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:73432850C>A	ENST00000263666.4	-	10	2981	c.2867G>T	c.(2866-2868)gGc>gTc	p.G956V	PDZRN3_ENST00000466780.1_Missense_Mutation_p.G613V|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G673V|PDZRN3_ENST00000462146.2_Missense_Mutation_p.G613V|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G678V	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	956							ubiquitin-protein ligase activity|zinc ion binding	p.G956V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGGTCATGCCGCTGCGCTC	0.667000													12	24					0.0135373	0.0140296	0.411799	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794437	15794437	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:15794437G>A	ENST00000550308.1	+	7	1162	c.782G>A	c.(781-783)cGc>cAc	p.R261H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R261H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGGCCTGCCGCCTGGTGCAT	0.552000													11	197					0	0	0.479597	0	0
STXBP1	6812	broad.mit.edu	37	9	130420719	130420719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130420719C>G	ENST00000373302.3	+	4	374	c.235C>G	c.(235-237)Cca>Gca	p.P79A	STXBP1_ENST00000373299.1_Missense_Mutation_p.P79A	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	79					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.P79A(4)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCATCACTCCATCCGAGAA	0.483000													45	331					0	0	0.870114	0	0
IGSF10	285313	broad.mit.edu	37	3	151154859	151154859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151154859G>T	ENST00000282466.3	-	6	7489	c.7490C>A	c.(7489-7491)aCa>aAa	p.T2497K	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2497	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.T2497K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCATAAGCTGTTGCTTCTTT	0.388000													131	293					2.77863e-71	5.32611e-71	0.870114	1	0
BNIP2	663	broad.mit.edu	37	15	59961504	59961504	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:59961504T>A	ENST00000267859.3	-	8	1221	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000607373.1_Silent_p.T255T|BNIP2_ENST00000415213.2_Silent_p.T317T			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	255					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	p.T255T(2)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAGCCAGAAGTGTTCTGATAA	0.264000													16	51					0	0	0.639603	0	0
HP1BP3	50809	broad.mit.edu	37	1	21074085	21074085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:21074085C>A	ENST00000375003.2	-	7	2249	c.749G>T	c.(748-750)gGg>gTg	p.G250V	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402V			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GAACCCTTTCCCAGAGATCTG	0.373000													17	79					0.00465635	0.00487454	0.681144	1	0
TRMT2B	79979	broad.mit.edu	37	X	100278506	100278506	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:100278506C>T	ENST00000338687.7	-	7	1379	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	TRMT2B_ENST00000372935.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G237R|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G192R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372931.5_Missense_Mutation_p.G237R			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	237							tRNA (uracil-5-)-methyltransferase activity	p.G237R(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATTGTGTGCCCTTGGCTATTG	0.443000													93	139					0	0	0.870114	0	0
REG3A	5068	broad.mit.edu	37	2	79384728	79384728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79384728C>T	ENST00000393878.1	-	4	684	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	REG3A_ENST00000409839.3_Missense_Mutation_p.G144S|REG3A_ENST00000305165.2_Missense_Mutation_p.G144S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	144	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G144S(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCACAGTGGCCGGGGCTTGAG	0.542000													8	233					0	0	0.278610	0	0
HECW1	23072	broad.mit.edu	37	7	43283518	43283518	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:43283518T>A	ENST00000395891.1	+	3	619	c.14T>A	c.(13-15)cTg>cAg	p.L5Q	AC004692.4_ENST00000458680.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.L5Q|AC004692.4_ENST00000457315.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	5					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L5Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGCTGCACCTGTGTAGTGTG	0.448000													175	373					0	0	0.870114	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664295	38664295	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:38664295G>A	ENST00000336949.6	+	2	1041	c.96G>A	c.(94-96)gtG>gtA	p.V32V	MID1IP1_ENST00000457894.1_Silent_p.V32V|MID1IP1_ENST00000378474.3_Silent_p.V32V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	32					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		p.V32V(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACCAGACGGTGATGGTGCCCA	0.602000													21	27					0	0	0.654019	0	0
PRUNE2	158471	broad.mit.edu	37	9	79234264	79234264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:79234264C>A	ENST00000428286.1	-	18	9354	c.8154G>T	c.(8152-8154)atG>atT	p.M2718I	PRUNE2_ENST00000223609.6_Intron|PRUNE2_ENST00000443509.2_Missense_Mutation_p.M325I|PRUNE2_ENST00000376718.3_Missense_Mutation_p.M3076I|PRUNE2_ENST00000466266.2_Intron			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3076					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.M3076I(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTCCTTCTCCATAGAAGACA	0.428000													5	66					0.00116845	0.0012394	0.217242	1	0
ALMS1P	200420	broad.mit.edu	37	2	73899571	73899571	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:73899571A>G	ENST00000450720.1	+	0	443					NR_003683.2																						GCTCTTTACCAGTTATCCTGA	0.393000													16	103					0	0	0.624587	0	0
MEPE	56955	broad.mit.edu	37	4	88767150	88767150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:88767150C>A	ENST00000497649.2	+	6	1436	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	MEPE_ENST00000560249.1_Missense_Mutation_p.A264E|MEPE_ENST00000361056.3_Missense_Mutation_p.A377E|MEPE_ENST00000540395.1_Missense_Mutation_p.A264E|MEPE_ENST00000424957.3_Missense_Mutation_p.A377E|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.A408E			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	377					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A377E(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACCCTCCTGCACCCTCAAAA	0.438000													15	81					6.31663e-08	7.33216e-08	0.479597	1	0
TET1	80312	broad.mit.edu	37	10	70450858	70450858	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:70450858G>T	ENST00000373644.4	+	12	5907	c.5698G>T	c.(5698-5700)Ggc>Tgc	p.G1900C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1900					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.G1900C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGATGGCCCTGGCATTTCACA	0.567000													16	136					2.35188e-11	2.94802e-11	0.539581	1	0
MAN2C1	4123	broad.mit.edu	37	15	75650895	75650895	+	Missense_Mutation	SNP	C	C	T	rs150018240		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:75650895C>T	ENST00000565683.1	-	20	2373	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	MAN2C1_ENST00000569482.1_Missense_Mutation_p.A771T|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A672T|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A771T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	771					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.A771T(2)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGAACCAGGCGCTGCCCCGC	0.647000													8	14					0	0	0.335167	0	0
C1orf173	127254	broad.mit.edu	37	1	75042610	75042610	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:75042610T>A	ENST00000326665.5	-	13	2405	c.2187A>T	c.(2185-2187)tcA>tcT	p.S729S	C1orf173_ENST00000433746.2_Intron	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	729	Glu-rich.							p.S729S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAATGGCAATGAATCCTTTC	0.383000													6	188					0	0	0.217242	0	0
DENND1A	57706	broad.mit.edu	37	9	126641241	126641241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:126641241C>A	ENST00000373624.2	-	2	278	c.77G>T	c.(76-78)gGc>gTc	p.G26V	DENND1A_ENST00000373620.3_Missense_Mutation_p.G26V|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373618.1_Missense_Mutation_p.A11S|DENND1A_ENST00000394215.2_Missense_Mutation_p.A11S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	26	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.G26V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGAAAGAGTGCCACCTGTCCT	0.373000													56	521					1.88225e-35	3.10271e-35	0.870114	1	0
OR2T10	127069	broad.mit.edu	37	1	248756948	248756948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248756948C>G	ENST00000330500.2	-	1	152	c.122G>C	c.(121-123)tGg>tCg	p.W41S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W41S(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAATATTCCAAGACACAGC	0.423000													67	75					0	0	0.870114	0	0
CSMD2	114784	broad.mit.edu	37	1	34209016	34209016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:34209016C>A	ENST00000373381.4	-	14	2214	c.2038G>T	c.(2038-2040)Gcc>Tcc	p.A680S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4.					integral to membrane|plasma membrane	protein binding	p.A640S(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCTCGGCGGTGGCCCCA	0.617000													13	80					4.14922e-12	5.28659e-12	0.500413	1	0
PLB1	151056	broad.mit.edu	37	2	28843772	28843772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28843772C>A	ENST00000422425.2	+	48	3465	c.3421C>A	c.(3421-3423)Ctc>Atc	p.L1141I	PLB1_ENST00000327757.5_Missense_Mutation_p.L1152I|PLB1_ENST00000541605.1_Missense_Mutation_p.L117I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1152	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L1141I(1)|p.L1152I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAACCCTTACCTCCTTGGCTT	0.552000													11	480					0.000151284	0.000165831	0.435327	1	0
BPIFB1	92747	broad.mit.edu	37	20	31873972	31873972	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:31873972C>T	ENST00000253354.1	+	2	254	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	31						extracellular space	lipid binding	p.L31L(2)									TTCTCATCCTCGGCCCAAAAG	0.567000													8	44					0	0	0.278610	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95210624	95210624	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:95210624G>T	ENST00000354268.4	+	24	3093	c.3019_splice	c.e24-1	p.G1007_splice	SMARCAD1_ENST00000509418.1_Splice_Site_p.G577_splice|SMARCAD1_ENST00000457823.2_Splice_Site_p.G1009_splice			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1007	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1007V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCTACAGGTGATGAAGGG	0.308000													83	366					1.46924e-35	2.42559e-35	0.870114	1	0
CACNA1E	777	broad.mit.edu	37	1	181759585	181759585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:181759585G>T	ENST00000526775.1	+	43	5899	c.5734G>T	c.(5734-5736)Ggc>Tgc	p.G1912C	CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1882C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1538C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1863C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1912C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1931C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1931C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1931					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G1931C(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTCAGGAGTGGCCGGAGTGG	0.542000													15	67					7.87624e-14	1.03268e-13	0.639603	1	0
DEFB112	245915	broad.mit.edu	37	6	50011302	50011302	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:50011302C>T	ENST00000322246.4	-	2	327	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	110					defense response to bacterium	extracellular region		p.D110N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGACGTGAGTCTTTAGGGTAC	0.408000													15	64					0	0	0.557998	0	0
BRAT1	221927	broad.mit.edu	37	7	2582880	2582880	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:2582880T>C	ENST00000340611.4	-	6	1137	c.881A>G	c.(880-882)cAc>cGc	p.H294R		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	294					response to ionizing radiation	nucleus	protein binding	p.H294R(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGGTCCCATGTGGGTGGGACC	0.642000													2	7					0	0	0.115264	0	0
OBSCN	84033	broad.mit.edu	37	1	228523918	228523918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:228523918C>A	ENST00000570156.2	+	75	19429	c.19355C>A	c.(19354-19356)tCa>tAa	p.S6452*	OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S5495*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S2614*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S3129*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S5495*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5495					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.S6077*(2)|p.S6207*(2)|p.S5495*(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCCATCTCAGCACAGGGG	0.572000													16	49					4.96729e-08	5.78449e-08	0.575678	1	0
NLRP4	147945	broad.mit.edu	37	19	56369376	56369376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:56369376C>A	ENST00000301295.6	+	3	1039	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.S131Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.S206Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	206	NACHT.						ATP binding	p.S206Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTTGATTTCCAGAGAGTGG	0.532000													28	120					4.74835e-14	6.23329e-14	0.750413	1	0
WDR27	253769	broad.mit.edu	37	6	170088913	170088913	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:170088913C>A	ENST00000333572.6	-	2	708	c.189_splice	c.e2+1	p.Q63_splice	WDR27_ENST00000448612.1_Splice_Site_p.Q63_splice|WDR27_ENST00000423258.1_Splice_Site_p.Q63_splice|WDR27_ENST00000420344.2_Splice_Site_p.Q63_splice			A2RRH5	WDR27_HUMAN	WD repeat domain 27	63								p.Q63H(6)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTCAATACCTGATGAGAAG	0.468000													151	362					1.3188e-82	2.5596e-82	0.870114	1	0
BIN2	51411	broad.mit.edu	37	12	51689596	51689596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:51689596C>G	ENST00000267012.4	-	9	806	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	BIN2_ENST00000452142.2_Missense_Mutation_p.V217L|BIN2_ENST00000544402.1_Missense_Mutation_p.V223L|BIN2_ENST00000604560.1_Missense_Mutation_p.V222L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	249						cytoplasm	protein binding	p.V249L(2)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTCCCTTCACCACAAAGACT	0.453000													122	250					0	0	0.870114	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988649	103988649	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:103988649A>T	ENST00000370005.3	+	4	674	c.453A>T	c.(451-453)acA>acT	p.T151T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	151					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.T151T(2)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACCACAGCACAGTGCTCGTGT	0.498000													37	54					0	0	0.864702	0	0
NXF1	10482	broad.mit.edu	37	11	62569274	62569274	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62569274G>A	ENST00000531709.2	-	6	689	c.576C>T	c.(574-576)aaC>aaT	p.N192N	NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000532297.1_Silent_p.N192N|NXF1_ENST00000294172.2_Silent_p.N192N|NXF1_ENST00000439713.2_Silent_p.N192N	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	192	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.N192N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGAAGAGTTGATGATGA	0.488000													40	224					0	0	0.859065	0	0
KLK4	9622	broad.mit.edu	37	19	51412025	51412025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51412025C>A	ENST00000324041.1	-	3	284	c.285G>T	c.(283-285)caG>caT	p.Q95H	KLK4_ENST00000431178.2_Missense_Mutation_p.Q46H	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	95	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.Q95H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCACCATCTGGCTCCCTG	0.602000													61	129					4.88506e-25	7.48305e-25	0.870114	1	0
FRY	10129	broad.mit.edu	37	13	32811626	32811626	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:32811626A>T	ENST00000380250.3	+	44	6417	c.5921A>T	c.(5920-5922)gAa>gTa	p.E1974V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.E1974V(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAACTGCCGAACGGAGCCGG	0.532000													6	50					0	0	0.361761	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783353	140783353	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140783353A>T	ENST00000573521.1	+	1	834	c.834A>T	c.(832-834)gcA>gcT	p.A278A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCT	0.418000													27	66					0	0	0.740014	0	0
GPR112	139378	broad.mit.edu	37	X	135429796	135429796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:135429796C>T	ENST00000394143.1	+	6	4222	c.3931C>T	c.(3931-3933)Caa>Taa	p.Q1311*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1311*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1248*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q1311*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGTCACCAAACACATTC	0.443000													132	206					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70314575	70314575	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:70314575T>A	ENST00000377844.4	-	8	2512	c.1753A>T	c.(1753-1755)Agt>Tgt	p.S585C	KLHL1_ENST00000545028.1_Missense_Mutation_p.S392C	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	585					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S585C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTGACATACTGGCTACAAAT	0.403000													23	160					0	0	0.693898	0	0
ITIH2	3698	broad.mit.edu	37	10	7763676	7763676	+	Missense_Mutation	SNP	C	C	T	rs141514196		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:7763676C>T	ENST00000358415.4	+	8	969	c.803C>T	c.(802-804)gCg>gTg	p.A268V	ITIH2_ENST00000379587.4_Missense_Mutation_p.A257V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A268V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGGAGACTGCGGTAGATGGG	0.552000													13	96					0	0	0.520397	0	0
BRE	9577	broad.mit.edu	37	2	28464261	28464261	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28464261G>T	ENST00000344773.2	+	9	989		c.e9+1		BRE_ENST00000342045.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000379632.2_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.?(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTTTGGCACGTAAGTTCTGC	0.438000													14	189					1.33834e-09	1.60689e-09	0.557998	1	0
KRT6A	3853	broad.mit.edu	37	12	52885477	52885477	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:52885477C>A	ENST00000330722.6	-	2	652	c.584G>T	c.(583-585)tGg>tTg	p.W195L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	195	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.W195L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGGGTCCACTTTGTTTC	0.522000													29	42					2.84144e-21	4.16411e-21	0.870114	1	0
PXDN	7837	broad.mit.edu	37	2	1653089	1653089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:1653089C>A	ENST00000252804.4	-	17	2513	c.2463G>T	c.(2461-2463)tgG>tgT	p.W821C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	821					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.W821C(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAACTGGCCCCACTGCATCA	0.662000													3	17					0.115264	0.116555	0.115264	1	0
PLCD4	84812	broad.mit.edu	37	2	219492945	219492945	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:219492945A>T	ENST00000450993.2	+	7	1305	c.966A>T	c.(964-966)ggA>ggT	p.G322G	PLCD4_ENST00000417849.1_Silent_p.G322G|PLCD4_ENST00000432688.1_Silent_p.G322G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G322G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGTCGAGGGATATATACGGT	0.512000													9	190					0	0	0.411799	0	0
COL3A1	1281	broad.mit.edu	37	2	189872628	189872628	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189872628G>A	ENST00000304636.3	+	46	3551	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1127	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.Q1127Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGTCAGCAGGGTGCAATCG	0.463000													61	74					0	0	0.870114	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:114107681C>T	ENST00000375418.3	-	1	158	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.K24K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGCTGTTCTCCTTGCAGACAT	0.577000													18	66					0	0	0.608945	0	0
PCDH10	57575	broad.mit.edu	37	4	134084177	134084177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:134084177G>T	ENST00000264360.4	+	4	3669	c.2843G>T	c.(2842-2844)gGc>gTc	p.G948V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	948					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G948V(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAGCTCTGGGCCACTCAGAT	0.483000													28	126					6.28921e-32	1.01508e-31	0.779181	1	0
OR2C3	81472	broad.mit.edu	37	1	247695358	247695358	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247695358C>T	ENST00000366487.3	-	2	817	c.456G>A	c.(454-456)ggG>ggA	p.G152G	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGTCAGACCCCCCAGCCAGG	0.562000													13	25					0	0	0.479597	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036699	58036699	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:58036699C>A	ENST00000556826.1	-	6	1170		c.e6-1		SLC35F4_ENST00000339762.6_Splice_Site|SLC35F4_ENST00000554729.1_Splice_Site	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.?(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAACAAGACCTGGAATGAGA	0.433000													5	36					0.00116845	0.0012394	0.217242	1	0
GUCY2F	2986	broad.mit.edu	37	X	108628501	108628501	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:108628501A>C	ENST00000218006.2	-	16	3258	c.2967T>G	c.(2965-2967)gtT>gtG	p.V989V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	989	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V989V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACTCCAGCAACAACCGGCC	0.478000													4	99					0	0	0.539581	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866251	131866251	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:131866251G>A	ENST00000359827.3	-	18	4343	c.3381C>T	c.(3379-3381)tcC>tcT	p.S1127S	PLXNA4_ENST00000321063.4_Silent_p.S1127S			Q9HCM2	PLXA4_HUMAN	plexin A4	1127	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.S1127S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGAGCAGGGACTGGACGT	0.602000													49	211					0	0	0.870114	0	0
OR13C5	138799	broad.mit.edu	37	9	107361248	107361248	+	Missense_Mutation	SNP	C	C	A	rs141723124	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107361248C>A	ENST00000374779.2	-	1	540	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149C(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCCTATGATCCAGGACCCAG	0.458000													51	594					6.34439e-16	8.58872e-16	0.870114	1	0
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:166981296A>T	ENST00000061240.2	+	15	2610	c.1963A>T	c.(1963-1965)Aga>Tga	p.R655*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.R678*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	655	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R655*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCAGTACAGAATTTCTGT	0.418000													29	96					0	0	0.812448	0	0
ZNF831	128611	broad.mit.edu	37	20	57829002	57829002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:57829002C>G	ENST00000371030.2	+	5	4238	c.4238C>G	c.(4237-4239)aCt>aGt	p.T1413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1413						intracellular	nucleic acid binding|zinc ion binding	p.T1413S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCACAGCACTGCTGCCACA	0.498000													29	218					0	0	0.779181	0	0
SYT6	148281	broad.mit.edu	37	1	114640465	114640465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:114640465C>A	ENST00000393296.1	-	6	1476	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SYT6_ENST00000369547.1_Missense_Mutation_p.V382L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	467					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.V382L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGATCCCCACACGACAGACT	0.567000													33	216					2.52637e-11	3.16308e-11	0.812448	1	0
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:92101100G>T	ENST00000377067.3	+	2	621	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	83						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q83H(3)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGCTCGCCAGGATATGCAGC	0.438000													53	276					7.22619e-39	1.22472e-38	0.870114	1	0
SORCS3	22986	broad.mit.edu	37	10	106802840	106802840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:106802840C>G	ENST00000369701.3	+	5	1209	c.982C>G	c.(982-984)Cgg>Ggg	p.R328G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	328						integral to membrane	neuropeptide receptor activity	p.R328G(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTTGGAAGACGGTGGCAACT	0.438000													187	471					0	0	0.870114	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241225	109241225	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:109241225G>T	ENST00000370021.1	+	6	862		c.e6-1		PRPF38B_ENST00000370025.4_Splice_Site			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing|RNA splicing	spliceosomal complex		p.?(2)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TGTTTCTGTAGGACCTAGATG	0.353000													50	96					4.6707e-30	7.47174e-30	0.870114	1	0
BAGE2	85319	broad.mit.edu	37	21	11049486	11049486	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:11049486C>A	ENST00000470054.1	-	0	622									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATTGCCAACCTGCACG	0.448000													19	394					1.75199e-13	2.28053e-13	0.717897	1	0
BAG6	7917	broad.mit.edu	37	6	31614237	31614237	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:31614237G>C	ENST00000404765.2	-	8	1141	c.852C>G	c.(850-852)ctC>ctG	p.L284L	BAG6_ENST00000439687.2_Silent_p.L284L|BAG6_ENST00000375964.6_Silent_p.L290L|BAG6_ENST00000362049.6_Silent_p.L284L|BAG6_ENST00000211379.5_Silent_p.L284L|BAG6_ENST00000375976.4_Silent_p.L284L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	290	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.L284L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGAAGGGCTGGAGGCGACTCT	0.582000													7	100					0	0	0.307466	0	0
LCE3D	84648	broad.mit.edu	37	1	152552354	152552354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552354T>A	ENST00000368787.3	-	2	115	c.59A>T	c.(58-60)aAg>aTg	p.K20M		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	20					keratinization			p.K20M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGGGACACTTGGGTGAGGG	0.602000													55	183					0	0	0.870114	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594437	11594437	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:11594437G>T	ENST00000294484.6	+	18	3513		c.e18-1		PTCHD2_ENST00000304391.6_Splice_Site|PTCHD2_ENST00000389575.3_Splice_Site	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2						cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.?(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTCCCCACAGACCACGTACA	0.627000													6	24					0.0293803	0.0300178	0.248553	1	0
BRWD3	254065	broad.mit.edu	37	X	79936970	79936970	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:79936970T>C	ENST00000373275.4	-	40	4740	c.4524A>G	c.(4522-4524)ctA>ctG	p.L1508L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1508								p.L1508L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAGTAGATATAGTGAAAGCC	0.378000													72	80					0	0	0.870114	0	0
ANO6	196527	broad.mit.edu	37	12	45810526	45810526	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:45810526C>T	ENST00000320560.8	+	17	2258	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Silent_p.L686L|ANO6_ENST00000423947.3_Silent_p.L707L|ANO6_ENST00000441606.2_Silent_p.L668L|ANO6_ENST00000435642.1_Silent_p.L686L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	686					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.L686L(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCTTTTCCACTGGCCCCTCT	0.473000													113	150					0	0	0.870114	0	0
F13A1	2162	broad.mit.edu	37	6	6318869	6318869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:6318869C>T	ENST00000264870.3	-	2	294	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	10					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G10E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTTCTGCCTCCAAAGGCGGT	0.478000													87	315					0	0	0.870114	0	0
OR2L3	391192	broad.mit.edu	37	1	248224532	248224532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248224532G>A	ENST00000359959.3	+	1	549	c.549G>A	c.(547-549)atG>atA	p.M183I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M183I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCCAGCAATGGTGACTCTGG	0.463000													118	750					0	0	0.870114	0	0
RBM44	375316	broad.mit.edu	37	2	238726701	238726701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:238726701C>T	ENST00000316997.4	+	3	1274	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S381F	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	380							nucleotide binding|RNA binding	p.S381F(4)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTCAAACTTCCTGGACCTCT	0.378000													9	70					0	0	0.361761	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979967	145979967	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:145979967A>C	ENST00000394413.3	-	7	1417	c.847T>G	c.(847-849)Tcg>Gcg	p.S283A	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S286A|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S349A|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S283A|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S283A|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S341A|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S283A|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S289A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.S283A(1)|p.S341A(1)|p.S286A(1)|p.S272A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGAAATCGAAGAGATAATT	0.423000													5	147					0	0	0.184627	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817990	22817990	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:22817990A>G	ENST00000404138.1	+	4	1306	c.795A>G	c.(793-795)ctA>ctG	p.L265L	ZBTB40_ENST00000374651.4_Silent_p.L265L|ZBTB40_ENST00000375647.4_Silent_p.L265L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L265L(2)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TAAAAAAACTAGAAATGTGTT	0.378000													69	182					0	0	0.870114	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995285	140995285	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:140995285C>A	ENST00000285879.4	+	4	2381	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	699							protein binding	p.L699I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTCCTCTTGAGGGAGA	0.562000										HNSCC(15;0.026)			23	30					3.28513e-13	4.25573e-13	0.667858	1	0
ESR1	2099	broad.mit.edu	37	6	152265375	152265375	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:152265375C>A	ENST00000440973.1	+	6	1198	c.828C>A	c.(826-828)ggC>ggA	p.G276G	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000544394.1_Silent_p.G103G|ESR1_ENST00000443427.1_Silent_p.G276G|ESR1_ENST00000206249.3_Silent_p.G276G|ESR1_ENST00000338799.5_Silent_p.G276G	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	276	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.G276G(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATGGGGAGGGCAGGGGTGAAG	0.507000													46	154					4.96213e-28	7.7997e-28	0.870114	1	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:98188534C>G	ENST00000332650.5	+	1	211	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433000													168	758					0	0	0.870114	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452						integral to membrane		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358000													14	106					2.48551e-13	3.22372e-13	0.520397	1	0
DCTN5	84516	broad.mit.edu	37	16	23669846	23669846	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23669846T>G	ENST00000300087.2	+	3	287	c.136T>G	c.(136-138)Tgt>Ggt	p.C46G	DCTN5_ENST00000563998.1_Missense_Mutation_p.C46G|DCTN5_ENST00000568589.1_Missense_Mutation_p.C46G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	46						centrosome	transferase activity	p.C46G(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GATGAATGACTGTATTATCCG	0.378000													6	249					0	0	0.217242	0	0
UNC13C	440279	broad.mit.edu	37	15	54307745	54307745	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:54307745T>A	ENST00000545554.1	+	1	2645	c.2645T>A	c.(2644-2646)aTg>aAg	p.M882K	UNC13C_ENST00000260323.11_Missense_Mutation_p.M882K|UNC13C_ENST00000537900.1_Missense_Mutation_p.M882K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	882					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.M882K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTGAAGTCATGGAACAAGTC	0.378000													96	198					0	0	0.870114	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204252	151204252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151204252G>T	ENST00000409426.1	+	4	752	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V103L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V102L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.V115L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	115	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.V115L(2)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATTTCTACGTGGTTGAGAG	0.488000													103	290					1.4093e-69	2.69185e-69	0.870114	1	0
REV1	51455	broad.mit.edu	37	2	100058928	100058928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:100058928G>C	ENST00000258428.3	-	5	582	c.354C>G	c.(352-354)atC>atG	p.I118M	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.I118M	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	118	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I118M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCAGCTTTGATGCTGAAAC	0.413000								Direct reversal of damage					7	228					0	0	0.361761	0	0
TFPT	29844	broad.mit.edu	37	19	54618637	54618637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:54618637G>C	ENST00000391759.1	-	1	418	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	TFPT_ENST00000391757.1_Missense_Mutation_p.Q5E	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	5					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	p.Q5E(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCTTCTCTCTGCTCCAATTCC	0.522000			T	TCF3	pre-B ALL						OREG0003633|OREG0003635	type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	35					0	0	0.361761	0	0
TRBV27	28560	broad.mit.edu	37	7	142423595	142423595	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142423595A>G	ENST00000506718.1	+	0	603				TRBV27_ENST00000390399.3_RNA																							GAAGGGTACAAAGTCTCTCGA	0.502000													24	315					0	0	0.654019	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237364	84237364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:84237364G>A	ENST00000324537.5	+	7	787	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	SH3GL3_ENST00000427482.2_Missense_Mutation_p.G91S|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G99S|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G91S			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	91	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G99S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCAGACGGAAGGCTTGCTGGG	0.517000													14	171					0	0	0.520397	0	0
ZNF322	79692	broad.mit.edu	37	6	26637670	26637670	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:26637670G>T	ENST00000415922.2	-	4	1757	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF322_ENST00000471278.1_Missense_Mutation_p.T371K	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.T371K(1)									AATGTGTACTGTCTGATGTTG	0.438000													52	880					2.68985e-26	4.14973e-26	0.870114	1	0
ELF2	1998	broad.mit.edu	37	4	139988852	139988852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:139988852G>C	ENST00000394235.2	-	7	1065	c.563C>G	c.(562-564)cCa>cGa	p.P188R	ELF2_ENST00000510408.1_Missense_Mutation_p.P128R|ELF2_ENST00000358635.3_Missense_Mutation_p.P140R|ELF2_ENST00000265495.4_Missense_Mutation_p.P188R|ELF2_ENST00000379549.2_Intron|ELF2_ENST00000379550.1_Missense_Mutation_p.P200R	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	200					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P188R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TCCTTCTCTTGGTTTCTTCTT	0.358000													33	103					0	0	0.827153	0	0
GRM3	2913	broad.mit.edu	37	7	86415735	86415735	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:86415735C>T	ENST00000361669.2	+	3	1726	c.627C>T	c.(625-627)aaC>aaT	p.N209N	GRM3_ENST00000394720.2_Silent_p.N207N|GRM3_ENST00000439827.1_Silent_p.N209N|GRM3_ENST00000536043.1_Silent_p.N81N|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	209					synaptic transmission	integral to plasma membrane		p.N209N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCTTCTTCAACTGGACCTACG	0.572000													29	154					0	0	0.750413	0	0
WARS2	10352	broad.mit.edu	37	1	119619185	119619185	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:119619185T>C	ENST00000369426.5	-	2	139	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.I46V			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	46					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.I46V(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AGGTGGAGGATTCCTGTAGGT	0.448000													59	511					0	0	0.870114	0	0
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:21424254C>A	ENST00000304625.2	+	2	414	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418000													69	363					6.00099e-30	9.57153e-30	0.870114	1	0
LIPK	643414	broad.mit.edu	37	10	90486557	90486557	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:90486557G>C	ENST00000404190.1	+	2	111	c.111G>C	c.(109-111)caG>caC	p.Q37H		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	37					lipid catabolic process	extracellular region	hydrolase activity	p.Q37H(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTAGAGCCAGATTATTTCTT	0.313000													14	15					0	0	0.520397	0	0
BBS9	27241	broad.mit.edu	37	7	33545221	33545221	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:33545221G>A	ENST00000242067.6	+	20	2783	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	BBS9_ENST00000354265.4_Silent_p.A719A|BBS9_ENST00000350941.3_Silent_p.A714A|BBS9_ENST00000396127.2_Silent_p.A719A|BBS9_ENST00000355070.2_Silent_p.A749A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	754					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.A754A(4)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGGAAGCGGCATTTCTGC	0.498000									Bardet-Biedl syndrome				15	141					0	0	0.539581	0	0
C9orf64	84267	broad.mit.edu	37	9	86570403	86570403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:86570403C>A	ENST00000376344.3	-	2	706	c.490G>T	c.(490-492)Gga>Tga	p.G164*	C9orf64_ENST00000376340.2_Nonsense_Mutation_p.G23*|C9orf64_ENST00000314700.1_Nonsense_Mutation_p.G23*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	164								p.G164*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAAGAGCCTCCAAACTTCTCC	0.443000													14	43					0.00316338	0.00333263	0.479597	1	0
SCN4A	6329	broad.mit.edu	37	17	62018710	62018710	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:62018710C>G	ENST00000435607.1	-	24	5008	c.4932G>C	c.(4930-4932)gtG>gtC	p.V1644V	SCN4A_ENST00000578147.1_Silent_p.V1644V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1644V(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCAGGGTGTCCACGAAGTCTG	0.567000													15	47					0	0	0.520397	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145419	44145419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:44145419C>G	ENST00000260665.7	-	28	3072	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1005					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.Q1005H(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGGAACTTCCTGGTTACCCT	0.338000													33	121					0	0	0.870114	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412161	43412161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:43412161G>T	ENST00000310826.5	-	3	2227	c.2044C>A	c.(2044-2046)Ctc>Atc	p.L682I	ZBTB21_ENST00000398499.1_Missense_Mutation_p.L682I|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L682I|ZBTB21_ENST00000398505.3_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.L682I(2)									AATTGAGAGAGAAAGCGGTAC	0.433000													8	101					0.00448238	0.00470846	0.307466	1	0
UMOD	7369	broad.mit.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20360484C>A	ENST00000396134.2	-	4	361	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	UMOD_ENST00000396138.4_Missense_Mutation_p.V96F|UMOD_ENST00000424589.1_Missense_Mutation_p.V80F|UMOD_ENST00000302509.4_Missense_Mutation_p.V47F|UMOD_ENST00000396142.2_Missense_Mutation_p.V47F|UMOD_ENST00000570689.1_Missense_Mutation_p.V47F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	47	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612000													3	47					0.004672	0.00487454	0.115264	1	0
KIAA2018	205717	broad.mit.edu	37	3	113375768	113375768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:113375768G>T	ENST00000316407.4	-	7	5171	c.4761C>A	c.(4759-4761)aaC>aaA	p.N1587K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1587K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1587	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.N1587K(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTTATGATGGTTCCGACTAG	0.478000													24	92					1.37878e-21	2.03436e-21	0.654019	1	0
DUSP22	56940	broad.mit.edu	37	6	348110	348110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:348110G>T	ENST00000419235.2	+	6	349	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.G91W|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	91	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G91W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGCCTGGCCGGGGTCTCCAG	0.602000													17	174					1.77063e-15	2.3762e-15	0.693898	1	0
TTN	7273	broad.mit.edu	37	2	179443719	179443719	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179443719T>C	ENST00000589042.1	-	320	68262	c.68038A>G	c.(68038-68040)Atc>Gtc	p.I22680V	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13615V|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I21039V|TTN_ENST00000359218.5_Missense_Mutation_p.I13740V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I13807V|TTN_ENST00000342992.6_Missense_Mutation_p.I20112V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21039							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I20110V(1)|p.I13740V(1)|p.I20112V(1)|p.I13615V(1)|p.I13807V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTAGGATATAGTTGGTG	0.478000													11	86					0	0	0.411799	0	0
TXK	7294	broad.mit.edu	37	4	48114498	48114498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:48114498C>T	ENST00000264316.4	-	4	291	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R69Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAGTGGCTTTCGTTTTGACGG	0.433000													16	304					0	0	0.639603	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718254	103718254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:103718254C>A	ENST00000245312.3	-	1	942	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	116					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.A116S(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCAATAGGCCAAGATATTG	0.507000													23	270					8.24728e-16	1.11508e-15	0.681144	1	0
DUOX1	53905	broad.mit.edu	37	15	45444142	45444142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:45444142C>A	ENST00000321429.4	+	25	3492	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1029K|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q675K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1029	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.Q1029K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGTCTCCACCAGACGGTGCA	0.587000													15	51					1.15088e-07	1.33162e-07	0.500413	1	0
TBX3	6926	broad.mit.edu	37	12	115114148	115114148	+	Missense_Mutation	SNP	C	C	A	rs140580685	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:115114148C>A	ENST00000349155.2	-	5	1972	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	TBX3_ENST00000257566.3_Missense_Mutation_p.A357S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	357					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.A357S(2)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACAGTGGAGGCGGCTGGAGAA	0.522000													39	33					5.2432e-18	7.36497e-18	0.870114	1	0
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	G	C	rs148764513		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:3002623G>C	ENST00000381127.1	+	6	967	c.746G>C	c.(745-747)cGg>cCg	p.R249P	ARSF_ENST00000359361.2_Missense_Mutation_p.R249P|ARSF_ENST00000537104.1_Missense_Mutation_p.R249P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	249						extracellular region	arylsulfatase activity|metal ion binding	p.R249P(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCATGCGGGGGCACGAG	0.493000													28	36					0	0	0.779181	0	0
OR2J2	26707	broad.mit.edu	37	6	29141790	29141790	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:29141790T>C	ENST00000377167.2	+	1	480	c.378T>C	c.(376-378)gcT>gcC	p.A126A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A126A(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTATGTAGCTGTGTGTAGAC	0.453000													195	1380					0	0	0.870114	0	0
CDH1	999	broad.mit.edu	37	16	68849475	68849475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:68849475G>T	ENST00000261769.5	+	10	1569	c.1378G>T	c.(1378-1380)Gta>Tta	p.V460L	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.V399L|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	460	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.V460L(2)|p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACGAATGTGGTACCTTTTGA	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				47	259					4.44712e-29	7.05159e-29	0.870114	1	0
EPX	8288	broad.mit.edu	37	17	56270730	56270730	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:56270730A>T	ENST00000225371.5	+	3	280		c.e3-1			NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase						hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.?(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCTCCTGGGCAGCATCAAGCA	0.637000													44	251					0	0	0.870114	0	0
TG	7038	broad.mit.edu	37	8	134125713	134125713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:134125713C>A	ENST00000220616.4	+	44	7660	c.7620C>A	c.(7618-7620)taC>taA	p.Y2540*	TG_ENST00000377869.1_Nonsense_Mutation_p.Y2483*|TG_ENST00000519543.1_Nonsense_Mutation_p.Y673*|TG_ENST00000542445.1_Nonsense_Mutation_p.Y910*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2540					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Y2540*(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCCTTTTACCAGGCACTGC	0.488000													72	128					1.02218e-41	1.7544e-41	0.870114	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525673	176525673	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:176525673C>G	ENST00000367662.3	+	2	1379	c.215C>G	c.(214-216)cCc>cGc	p.P72R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P72R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	72					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P72R(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGTCTACCCCAGCAGGGCT	0.557000													181	494					0	0	0.870114	0	0
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:25014018G>A	ENST00000382114.4	-	7	944	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253						extracellular region		p.N253N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCACCATGCAGTTCTCCATGC	0.468000													49	281					0	0	0.870114	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140553818C>A	ENST00000231137.3	+	1	1576	c.1402C>A	c.(1402-1404)Ctg>Atg	p.L468M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632000													17	71					1.12875e-08	1.33454e-08	0.706142	1	0
CCDC63	160762	broad.mit.edu	37	12	111336809	111336809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:111336809G>T	ENST00000308208.5	+	10	1464	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	CCDC63_ENST00000545036.1_Missense_Mutation_p.D368Y|CCDC63_ENST00000552694.1_Missense_Mutation_p.D329Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	408								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAGACCTTGGATCTATTGAA	0.507000													82	81					1.13884e-41	1.95153e-41	0.870114	1	0
PLB1	151056	broad.mit.edu	37	2	28855858	28855858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28855858C>A	ENST00000422425.2	+	55	4061	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	PLB1_ENST00000327757.5_Missense_Mutation_p.F1350L|PLB1_ENST00000541605.1_Missense_Mutation_p.F315L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1350	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.F1339L(2)|p.F1350L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTTTCACTTCTCAGACCGCG	0.562000													30	264					1.69901e-12	2.17755e-12	0.812448	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	86					0	0	0.361761	0	0
OR2G6	391211	broad.mit.edu	37	1	248685280	248685280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248685280G>A	ENST00000343414.4	+	1	365	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCGTCTGAGTGTATTCTCT	0.552000													50	590					0	0	0.870114	0	0
CACNA1S	779	broad.mit.edu	37	1	201029820	201029820	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:201029820A>G	ENST00000362061.3	-	26	3606	c.3380T>C	c.(3379-3381)cTc>cCc	p.L1127P	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1127P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1127					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.L1127P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAGCATGATGAGGGCAAACAT	0.537000													9	390					0	0	0.387290	0	0
DYRK4	8798	broad.mit.edu	37	12	4722693	4722693	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:4722693A>G	ENST00000540757.2	+	13	1497	c.1337A>G	c.(1336-1338)aAa>aGa	p.K446R	DYRK4_ENST00000010132.5_Missense_Mutation_p.K446R|DYRK4_ENST00000545342.1_Missense_Mutation_p.K83R|DYRK4_ENST00000543431.1_Missense_Mutation_p.K445R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	446						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K847R(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GAGATCACCAAAGAGACTACA	0.438000													21	131					0	0	0.654019	0	0
ERG	2078	broad.mit.edu	37	21	39775598	39775598	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:39775598T>G	ENST00000442448.1	-	6	714	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	ERG_ENST00000398910.1_Missense_Mutation_p.Q148P|ERG_ENST00000398907.1_Missense_Mutation_p.Q141P|ERG_ENST00000453032.2_Missense_Mutation_p.Q49P|ERG_ENST00000398911.1_Missense_Mutation_p.Q148P|ERG_ENST00000398897.1_Missense_Mutation_p.Q49P|ERG_ENST00000398919.2_Missense_Mutation_p.Q148P|ERG_ENST00000429727.2_Intron|ERG_ENST00000398905.1_Missense_Mutation_p.Q141P|ERG_ENST00000417133.2_Missense_Mutation_p.Q148P|ERG_ENST00000288319.7_Missense_Mutation_p.Q141P	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	148	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q148P(2)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCCAGCCACTGCCGCACATG	0.507000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								57	183					0	0	0.870114	0	0
CLC	1178	broad.mit.edu	37	19	40228577	40228577	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:40228577C>T	ENST00000221804.4	-	1	91		c.e1+1			NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin						lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TTTTAACTCACGGGTAGCAGG	0.428000													21	690					0	0	0.729181	0	0
RP1L1	94137	broad.mit.edu	37	8	10469886	10469886	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:10469886G>T	ENST00000382483.3	-	4	1945	c.1722C>A	c.(1720-1722)ccC>ccA	p.P574P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	574					intracellular signal transduction			p.P574P(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGAGAAGCGGGGTCGCCTC	0.652000													6	33					0.0293803	0.0300178	0.248553	1	0
TOPORS	10210	broad.mit.edu	37	9	32544246	32544246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:32544246C>G	ENST00000360538.2	-	3	393	c.277G>C	c.(277-279)Gta>Cta	p.V93L	TOPORS_ENST00000379858.1_Missense_Mutation_p.V28L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.V93L(2)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAGCTGGTACTGTCTGTTGC	0.373000													7	102					0	0	0.335167	0	0
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27196029C>G	ENST00000242159.3	-	1	269	c.136G>C	c.(136-138)Gcc>Ccc	p.A46P		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622000													6	12					0	0	0.248553	0	0
SLC10A7	84068	broad.mit.edu	37	4	147425062	147425062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:147425062C>A	ENST00000432059.2	-	4	581	c.335G>T	c.(334-336)gGt>gTt	p.G112V	SLC10A7_ENST00000335472.7_Missense_Mutation_p.G112V|SLC10A7_ENST00000394062.3_Missense_Mutation_p.G112V|SLC10A7_ENST00000511374.1_Missense_Mutation_p.R66S|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.G112V|SLC10A7_ENST00000264986.3_Missense_Mutation_p.R66S|SLC10A7_ENST00000394059.4_Missense_Mutation_p.G112V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	112						integral to membrane	bile acid:sodium symporter activity	p.G112V(4)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGGCATGCAACCTACTGTCTG	0.373000													19	108					1.87028e-06	2.12541e-06	0.608945	1	0
SLC5A11	115584	broad.mit.edu	37	16	24895432	24895432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24895432C>T	ENST00000347898.3	+	8	1266	c.644C>T	c.(643-645)gCg>gTg	p.A215V	SLC5A11_ENST00000569071.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A180V|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A180V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A151V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	215					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.A215V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTATAGGAGCGCTCACCTTG	0.592000													91	313					0	0	0.870114	0	0
ALOX5	240	broad.mit.edu	37	10	45907644	45907644	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:45907644T>A	ENST00000374391.2	+	4	490	c.437T>A	c.(436-438)aTg>aAg	p.M146K	ALOX5_ENST00000542434.1_Missense_Mutation_p.M146K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	146	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.M146K(2)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTCAGATGGATGGAGTGGAAC	0.498000													4	74					0	0	0.217242	0	0
OGN	4969	broad.mit.edu	37	9	95165620	95165620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:95165620G>T	ENST00000262551.4	-	2	490	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.Q24K	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	24						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAGTCCTGCTGGGTTGGTGGT	0.383000													34	85					4.14481e-20	5.95335e-20	0.819951	1	0
UGDH	7358	broad.mit.edu	37	4	39515801	39515801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:39515801C>A	ENST00000316423.6	-	3	508	c.166G>T	c.(166-168)Gga>Tga	p.G56*	UGDH_ENST00000507089.1_De_novo_Start_OutOfFrame|UGDH_ENST00000506179.1_Nonsense_Mutation_p.G56*|UGDH_ENST00000501493.2_Nonsense_Mutation_p.G56*|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	56					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.G56*(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TCTTTTAGTCCTGGCTAAAAA	0.313000													11	37					0.0202918	0.0208898	0.457914	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	50					0	0	0.184627	0	0
CNTN6	27255	broad.mit.edu	37	3	1415642	1415642	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:1415642A>C	ENST00000446702.2	+	16	2607	c.1980A>C	c.(1978-1980)gcA>gcC	p.A660A	CNTN6_ENST00000350110.2_Silent_p.A660A|CNTN6_ENST00000539053.1_Silent_p.A588A			Q9UQ52	CNTN6_HUMAN	contactin 6	660	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.A660A(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATACAATGCAACAGTGGTTG	0.388000													45	122					0	0	0.870114	0	0
C4orf22	255119	broad.mit.edu	37	4	81866088	81866088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:81866088C>A	ENST00000358105.3	+	5	650	c.601C>A	c.(601-603)Cca>Aca	p.P201T	C4orf22_ENST00000508675.1_Missense_Mutation_p.P218T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	201								p.P201T(2)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TAATGTGGACCCAAAGGTAAT	0.323000													24	96					1.88708e-17	2.62351e-17	0.729181	1	0
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:10822872G>C	ENST00000250237.5	+	6	692	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617000													10	13					0	0	0.457914	0	0
F8	2157	broad.mit.edu	37	X	154157069	154157069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:154157069G>A	ENST00000360256.4	-	14	5196	c.4996C>T	c.(4996-4998)Caa>Taa	p.Q1666*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1666	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q1666*(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTTCCCGTTGATGGCGTTTC	0.408000													24	341					0	0	0.667858	0	0
RBM47	54502	broad.mit.edu	37	4	40440430	40440430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:40440430T>A	ENST00000319592.4	-	4	1190	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	RBM47_ENST00000295971.7_Missense_Mutation_p.M161L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.M161L|RBM47_ENST00000514014.1_Missense_Mutation_p.M123L|RBM47_ENST00000381795.6_Missense_Mutation_p.M161L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	161	RRM 2.					nucleus	nucleotide binding|RNA binding	p.M161L(6)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTTCTTCATCTTGGGGATC	0.627000													9	23					0	0	0.335167	0	0
OR52K1	390036	broad.mit.edu	37	11	4510989	4510989	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4510989C>G	ENST00000307632.3	+	1	881	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTTTCCCACCCATGGTCAA	0.463000													126	522					0	0	0.870114	0	0
HDHD1	8226	broad.mit.edu	37	X	6995465	6995465	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:6995465C>A	ENST00000381077.5	-	3	382	c.306G>T	c.(304-306)ctG>ctT	p.L102L	HDHD1_ENST00000424830.2_Silent_p.L125L|HDHD1_ENST00000540122.1_Silent_p.L102L|HDHD1_ENST00000412827.2_Silent_p.L59L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	102					nucleotide metabolic process		metal ion binding|phosphatase activity	p.L88L(2)		breast(2)|large_intestine(1)|lung(3)	6						CATGTTTCCGCAGGTGGATGA	0.592000													10	44					2.31682e-05	2.57082e-05	0.479597	1	0
LRIT2	340745	broad.mit.edu	37	10	85982089	85982089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:85982089C>A	ENST00000372113.4	-	3	1245	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.G424*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTATTGATTCCGGGGCCAATG	0.557000													64	86					1.15062e-32	1.86324e-32	0.870114	1	0
GTF3C1	2975	broad.mit.edu	37	16	27540011	27540011	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:27540011T>A	ENST00000356183.4	-	6	896	c.881A>T	c.(880-882)tAc>tTc	p.Y294F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y294F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	294						transcription factor TFIIIC complex	DNA binding|protein binding	p.Y294F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATATACTGGTACAGACGCTT	0.453000													21	562					0	0	0.667858	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811918	56811918	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:56811918C>A	ENST00000229201.4	-	27	3605	c.3451_splice	c.e27+1	p.E1151_splice	TIMELESS_ENST00000554616.1_Splice_Site_p.E649_splice|TIMELESS_ENST00000553532.1_Splice_Site_p.E1152_splice	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1152					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.E1152*(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCACTATTACCCTCTGGGGAT	0.532000													112	172					7.55469e-51	1.35235e-50	0.870114	1	0
SLC17A4	10050	broad.mit.edu	37	6	25769244	25769244	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:25769244C>A	ENST00000377905.4	+	3	242	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Silent_p.L41L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	41					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.L41L(2)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCCCTCATCTTGCAGC	0.468000													35	123					3.61848e-18	5.10262e-18	0.834066	1	0
PRRC2C	23215	broad.mit.edu	37	1	171482234	171482234	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:171482234C>G	ENST00000367742.3	+	3	455	c.213C>G	c.(211-213)ggC>ggG	p.G71G	PRRC2C_ENST00000338920.4_Silent_p.G69G|PRRC2C_ENST00000392078.3_Silent_p.G71G|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Silent_p.G69G			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	69							protein C-terminus binding	p.G71G(2)									AAAACAAAGGCAATGATCCTA	0.423000													9	379					0	0	0.361761	0	0
BRINP3	339479	broad.mit.edu	37	1	190067423	190067423	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:190067423C>G	ENST00000367462.3	-	8	2257	c.2026G>C	c.(2026-2028)Gac>Cac	p.D676H	FAM5C_ENST00000534846.1_Missense_Mutation_p.D574H|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		676						extracellular region		p.D676H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTTCAGGGTCAAAGTGCATG	0.458000													58	270					0	0	0.870114	0	0
OR6K2	81448	broad.mit.edu	37	1	158670253	158670253	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158670253T>A	ENST00000359610.2	-	1	233	c.190A>T	c.(190-192)Agt>Tgt	p.S64C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAAAGAGCACTGATAAAAGTA	0.438000													156	386					0	0	0.870114	0	0
PTPN5	84867	broad.mit.edu	37	11	18754824	18754824	+	Silent	SNP	C	C	A	rs116891792	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:18754824C>A	ENST00000396170.1	-	11	2344	c.1080G>T	c.(1078-1080)acG>acT	p.T360T	PTPN5_ENST00000396168.1_Silent_p.T368T|PTPN5_ENST00000396171.4_Silent_p.T392T|PTPN5_ENST00000396167.2_Silent_p.T360T|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000358540.2_Silent_p.T392T|PTPN5_ENST00000477854.1_Silent_p.T196T	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	392	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.T392T(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAATGATGGGCGTGTGCTCCT	0.577000													13	92					1.02788e-11	1.29442e-11	0.520397	1	0
FRMPD2	143162	broad.mit.edu	37	10	49450216	49450216	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:49450216A>T	ENST00000374201.3	-	5	857	c.555T>A	c.(553-555)ggT>ggA	p.G185G	FRMPD2_ENST00000407470.4_Silent_p.G154G|FRMPD2_ENST00000305531.3_Silent_p.G161G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	185	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G185G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAATGGTACCCAGAACCA	0.448000													6	196					0	0	0.307466	0	0
RBM7	10179	broad.mit.edu	37	11	114276519	114276519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114276519G>T	ENST00000541475.1	+	4	504	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	RBM7_ENST00000544582.1_Missense_Mutation_p.V146L|RBM7_ENST00000540163.1_Missense_Mutation_p.V146L|RBM7_ENST00000375490.5_Missense_Mutation_p.V147L|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.Q143H|RBM7_ENST00000545678.1_Missense_Mutation_p.V26L			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	146					meiosis		nucleotide binding|protein binding|RNA binding	p.V146L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGACAAGCAGTGGTAGGTTG	0.323000													71	115					2.15109e-50	3.83794e-50	0.870114	1	0
C1orf116	79098	broad.mit.edu	37	1	207195442	207195442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:207195442G>T	ENST00000359470.5	-	4	1916	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	C1orf116_ENST00000461135.2_Missense_Mutation_p.S310Y	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	556						cytoplasm|plasma membrane	receptor activity	p.S556Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CAGGCGCTTGGAGCTCTGCTC	0.597000													7	54					0.000274275	0.000297635	0.307466	1	0
OR9G4	283189	broad.mit.edu	37	11	56510307	56510307	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:56510307T>C	ENST00000302957.3	-	1	980	c.981A>G	c.(979-981)acA>acG	p.T327T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T327T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACCTTCATGTTTGTGGTT	0.363000													79	275					0	0	0.870114	0	0
NID1	4811	broad.mit.edu	37	1	236201439	236201439	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:236201439C>A	ENST00000264187.6	-	5	1332	c.1250G>T	c.(1249-1251)gGc>gTc	p.G417V	NID1_ENST00000366595.3_Missense_Mutation_p.G417V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	417	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G417V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCCCGTATAGCCAGCGACACA	0.542000													30	159					3.11337e-16	4.24658e-16	0.769981	1	0
FAM83C	128876	broad.mit.edu	37	20	33876672	33876672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:33876672G>T	ENST00000374408.3	-	2	699	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	201								p.Y201*(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGAGCAGGTACACAGGGA	0.602000													15	62					2.4624e-09	2.94997e-09	0.575678	1	0
HP1BP3	50809	broad.mit.edu	37	1	21074086	21074086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:21074086C>A	ENST00000375003.2	-	7	2248	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402W			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AACCCTTTCCCAGAGATCTGT	0.368000													17	81					0.00465635	0.00487454	0.681144	1	0
TRAM1	23471	broad.mit.edu	37	8	71512306	71512306	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:71512306T>A	ENST00000521425.1	-	0	913				TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Missense_Mutation_p.K14N|TRAM1_ENST00000262213.2_Missense_Mutation_p.K45N			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.K45N(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGATAGAAGCTTTTGCCGTTA	0.368000													47	72					0	0	0.870114	0	0
CARD11	84433	broad.mit.edu	37	7	2985553	2985553	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:2985553C>A	ENST00000396946.4	-	4	661	c.258G>T	c.(256-258)agG>agT	p.R86S	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	86	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R79S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCACATAGCCCCTTTGCCCCT	0.493000			Mis		DLBCL								78	479					1.31215e-26	2.03008e-26	0.870114	1	0
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592000										HNSCC(7;0.00092)			129	187					8.32301e-65	1.57309e-64	0.870114	1	0
ZNF268	10795	broad.mit.edu	37	12	133779409	133779409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:133779409G>T	ENST00000536435.2	+	6	1467	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.Q218H|ZNF268_ENST00000228289.5_Missense_Mutation_p.Q379H|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	379						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTCACACCAGAAAACTCATT	0.388000													11	17					0.0135373	0.0140296	0.411799	1	0
HEPH	9843	broad.mit.edu	37	X	65417580	65417580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:65417580G>T	ENST00000519389.1	+	10	1898	c.1719G>T	c.(1717-1719)tgG>tgT	p.W573C	HEPH_ENST00000336279.5_Missense_Mutation_p.W252C|HEPH_ENST00000441993.2_Missense_Mutation_p.W522C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.W522C|HEPH_ENST00000343002.2_Missense_Mutation_p.W519C			Q9BQS7	HEPH_HUMAN	hephaestin	519	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.W519C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATACCGCTGGACAGTCCCCC	0.488000													59	83					2.49387e-53	4.50894e-53	0.870114	1	0
C10orf12	26148	broad.mit.edu	37	10	98743749	98743749	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98743749T>A	ENST00000286067.2	+	1	2709	c.2602T>A	c.(2602-2604)Ttt>Att	p.F868I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	868								p.F868I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATGACAAACTTTAAATTATC	0.398000													4	123					0	0	0.150653	0	0
DICER1	23405	broad.mit.edu	37	14	95573945	95573945	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:95573945C>T	ENST00000526495.1	-	19	3095	c.2804_splice	c.e19+1	p.R935_splice	DICER1_ENST00000343455.3_Splice_Site_p.R935_splice|DICER1_ENST00000393063.1_Splice_Site_p.R935_splice|DICER1_ENST00000541352.1_Splice_Site_p.R935_splice|DICER1_ENST00000527414.1_Splice_Site_p.R935_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	935	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R935K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATACCTACCTTGGAATGAT	0.418000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				6	153					0	0	0.248553	0	0
PDE8B	8622	broad.mit.edu	37	5	76607850	76607850	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:76607850C>T	ENST00000264917.5	+	2	416	c.371C>T	c.(370-372)cCc>cTc	p.P124L	PDE8B_ENST00000346042.3_Missense_Mutation_p.P124L|PDE8B_ENST00000333194.4_Missense_Mutation_p.P124L|PDE8B_ENST00000340978.3_Missense_Mutation_p.P124L|PDE8B_ENST00000342343.4_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	124					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.P124L(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGCATCGGGCCCATGAGACTG	0.428000													20	678					0	0	0.667858	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773147	140773147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140773147C>A	ENST00000398604.2	+	1	767	c.767C>A	c.(766-768)cCc>cAc	p.P256H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1												p.P256H(2)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACATGCCCCCAGGCACG	0.488000													20	35					2.89027e-11	3.59789e-11	0.624587	1	0
PRR16	51334	broad.mit.edu	37	5	120022158	120022158	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:120022158G>T	ENST00000379551.2	+	3	957	c.600G>T	c.(598-600)cgG>cgT	p.R200R	PRR16_ENST00000407149.2_Silent_p.R223R|PRR16_ENST00000446965.1_Silent_p.R153R|PRR16_ENST00000505123.1_Silent_p.R153R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	223	Pro-rich.							p.R200R(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTGATACCCGGTATAACATAA	0.512000													35	169					2.20914e-33	3.59234e-33	0.859065	1	0
STPG2	285555	broad.mit.edu	37	4	98480220	98480220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:98480220C>T	ENST00000295268.3	-	11	1458	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.D457N(2)									CACATTATATCAGCAGCCATT	0.284000													59	249					0	0	0.870114	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182405	57182405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:57182405G>T	ENST00000504228.1	+	6	2842	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A913S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A906S			Q6ZU35	K1211_HUMAN	KIAA1211	913								p.A913S(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCGGAAGCAAGCCCCTTCCAC	0.687000													9	26					4.68919e-08	5.47241e-08	0.361761	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702834	40702834	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:40702834A>C	ENST00000356699.5	+	4	520	c.491A>C	c.(490-492)gAt>gCt	p.D164A	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.D164A(4)									CATCCTCAGGATCTGGCCTCC	0.587000													92	436					0	0	0.870114	0	0
LHCGR	3973	broad.mit.edu	37	2	48941147	48941147	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:48941147T>G	ENST00000294954.7	-	7	604	c.583A>C	c.(583-585)Aat>Cat	p.N195H	LHCGR_ENST00000344775.3_Missense_Mutation_p.N195H|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.N195H|LHCGR_ENST00000403273.1_Missense_Mutation_p.N195H|LHCGR_ENST00000401907.1_Missense_Mutation_p.N195H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	195					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.N195H(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCGTCCCATTGAATGCATGA	0.378000													22	198					0	0	0.717897	0	0
TRIM55	84675	broad.mit.edu	37	8	67064862	67064862	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:67064862G>A	ENST00000315962.4	+	8	1609	c.1236_splice	c.e8+1	p.Q412_splice	TRIM55_ENST00000353317.5_Splice_Site_p.Q412_splice|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Splice_Site_p.Q412_splice	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	412						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGTGACACAGGTAACCCCTC	0.542000													33	143					0	0	0.819951	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:54219926C>A	ENST00000384818.1	+	0	79					NR_030203.1																						AGAGTGTTACCGTGTGAGAAA	0.428000													27	52					1.7881e-09	2.14453e-09	0.729181	1	0
STARD13	90627	broad.mit.edu	37	13	33704350	33704350	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33704350C>A	ENST00000336934.5	-	5	580	c.464G>T	c.(463-465)cGt>cTt	p.R155L	STARD13_ENST00000399365.3_Missense_Mutation_p.R37L|STARD13_ENST00000255486.4_Missense_Mutation_p.R147L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	155					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R155L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTCGTCCACACGAGACCACCT	0.552000													20	140					1.12875e-08	1.33454e-08	0.706142	1	0
NYNRIN	57523	broad.mit.edu	37	14	24877306	24877306	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:24877306G>T	ENST00000382554.3	+	3	748	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	144					DNA integration	integral to membrane	DNA binding	p.G144C(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGCGCTGGGGCCCTGCCCC	0.687000													5	19					0.00116845	0.0012394	0.217242	1	0
CEP78	84131	broad.mit.edu	37	9	80869847	80869847	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:80869847T>C	ENST00000424347.2	+	11	1636	c.1347T>C	c.(1345-1347)ccT>ccC	p.P449P	CEP78_ENST00000376597.4_Silent_p.P450P|CEP78_ENST00000487108.2_3'UTR|CEP78_ENST00000277082.5_Silent_p.P449P|CEP78_ENST00000376598.2_Silent_p.P449P|CEP78_ENST00000415759.2_Silent_p.P450P			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	449					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.P449P(1)|p.P450P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ATGAAGTGCCTGAGAAAACTA	0.378000													3	80					0	0	0.150653	0	0
OSBPL6	114880	broad.mit.edu	37	2	179259071	179259071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179259071G>T	ENST00000190611.4	+	24	2981	c.2605G>T	c.(2605-2607)Gca>Tca	p.A869S	OSBPL6_ENST00000315022.2_Missense_Mutation_p.A873S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.A833S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A894S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.A833S|OSBPL6_ENST00000409045.3_Missense_Mutation_p.A838S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	869					lipid transport		lipid binding	p.A894S(2)|p.A869S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGAAGCTGCAGCATCAGAGAA	0.348000													59	171					2.72187e-29	4.32861e-29	0.870114	1	0
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	C	A	rs142051051	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:57876663C>A	ENST00000311585.7	+	2	621	c.251C>A	c.(250-252)gCg>gAg	p.A84E	EDN3_ENST00000371025.3_Missense_Mutation_p.A84E|EDN3_ENST00000371028.2_Missense_Mutation_p.A84E|EDN3_ENST00000395654.3_Missense_Mutation_p.A84E|EDN3_ENST00000337938.2_Missense_Mutation_p.A84E	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	84					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662000													7	19					8.12818e-05	8.93688e-05	0.248553	1	0
NUPL1	9818	broad.mit.edu	37	13	25881957	25881957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25881957G>T	ENST00000463407.1	+	2	264	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.G41W|NUPL1_ENST00000381718.3_Missense_Mutation_p.G41W			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	41	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.G41W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCCTTCTGTGGGGCTCAATTT	0.378000													12	51					9.05144e-12	1.14251e-11	0.435327	1	0
IFNA2	3440	broad.mit.edu	37	9	21384955	21384955	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:21384955C>A	ENST00000380206.2	-	1	441	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	125					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G125V(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CACCCCCACCCCCTGTATCAC	0.483000													16	233					3.41278e-10	4.16221e-10	0.520397	1	0
CADPS	8618	broad.mit.edu	37	3	62636588	62636588	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:62636588G>C	ENST00000383710.4	-	5	1486	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	CADPS_ENST00000357948.3_Missense_Mutation_p.I379M|CADPS_ENST00000283269.9_Missense_Mutation_p.I379M|CADPS_ENST00000490353.2_Missense_Mutation_p.I379M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	379					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I379M(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCCCATGTCGATGATGGAAG	0.522000													38	157					0	0	0.840704	0	0
ADAM12	8038	broad.mit.edu	37	10	127753557	127753557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:127753557C>A	ENST00000368679.4	-	14	1745	c.1436G>T	c.(1435-1437)gGa>gTa	p.G479V	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.G479V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	479	Disintegrin.		G -> E (in a breast cancer sample; somatic mutation).		cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.G479V(6)|p.G479E(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCACGCTGTTCCTGCAGGCTT	0.607000													9	25					0.000673444	0.000721404	0.361761	1	0
OR2M7	391196	broad.mit.edu	37	1	248487866	248487866	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248487866G>T	ENST00000317965.2	-	1	33	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2E(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCTCCCATGCCATGATGAA	0.428000													107	536					9.84861e-36	1.6284e-35	0.870114	1	0
RAB3C	115827	broad.mit.edu	37	5	58120870	58120870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:58120870C>A	ENST00000282878.4	+	4	546	c.377C>A	c.(376-378)aCt>aAt	p.T126N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	126					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.T126N(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGTCAACTCAAATCAAA	0.418000													68	405					1.7458e-18	2.46829e-18	0.870114	1	0
NPY4R	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:47087209C>T	ENST00000374312.1	+	3	845	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPY4R_ENST00000395716.1_Silent_p.L142L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.L142L(2)									GGCATCAGCTCATCATCAACC	0.592000													46	371					0	0	0.870114	0	0
TARSL2	123283	broad.mit.edu	37	15	102197168	102197168	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:102197168C>T	ENST00000335968.3	-	18	2433	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	739					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.K739K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGTATTTTCTTATTTAGTG	0.313000													10	24					0	0	0.435327	0	0
CD163	9332	broad.mit.edu	37	12	7636092	7636092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:7636092C>A	ENST00000359156.4	-	12	3161	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	CD163_ENST00000541972.1_Missense_Mutation_p.G975W|CD163_ENST00000432237.2_Missense_Mutation_p.G987W|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.G1020W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGTCCAGTCCCCTGACCAAAC	0.517000													49	148					2.47907e-22	3.67282e-22	0.870114	1	0
FRAS1	80144	broad.mit.edu	37	4	79367972	79367972	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:79367972T>A	ENST00000264895.6	+	43	6388	c.5948T>A	c.(5947-5949)cTg>cAg	p.L1983Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1982					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L1983Q(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTTTGAGCCTGCAAGACCTG	0.478000													5	48					0	0	0.184627	0	0
CALHM2	51063	broad.mit.edu	37	10	105209690	105209690	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:105209690G>T	ENST00000393235.1	-	3	1206	c.9C>A	c.(7-9)gcC>gcA	p.A3A	CALHM2_ENST00000260743.5_Silent_p.A3A|CALHM2_ENST00000369788.3_Silent_p.A3A|CALHM2_ENST00000494180.1_5'UTR			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	3						integral to membrane		p.A3A(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGCGATCAGGGCTGCCATGG	0.587000													19	30					6.32553e-13	8.18465e-13	0.681144	1	0
RASGRF2	5924	broad.mit.edu	37	5	80408586	80408586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:80408586C>A	ENST00000265080.4	+	14	2063	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	666	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L666M(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAACACCTTTCTGCACACCTA	0.512000													224	746					1.34026e-64	2.52874e-64	0.870114	1	0
SHPRH	257218	broad.mit.edu	37	6	146262871	146262871	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:146262871C>G	ENST00000367503.3	-	10	2776	c.2378G>C	c.(2377-2379)cGt>cCt	p.R793P	SHPRH_ENST00000438092.2_Missense_Mutation_p.R793P|SHPRH_ENST00000275233.7_Missense_Mutation_p.R793P|SHPRH_ENST00000367505.2_Missense_Mutation_p.R793P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R793P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCGTAGGCGACGCCCATCCTC	0.468000													25	69					0	0	0.693898	0	0
NNMT	4837	broad.mit.edu	37	11	114182861	114182861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114182861C>T	ENST00000535401.1	+	5	721	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P153S|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	153					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGGGCCGTCCCCTTACCCCC	0.622000													6	115					0	0	0.248553	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449458	124449458	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:124449458G>T	ENST00000523984.1	+	5	440	c.212G>T	c.(211-213)aGa>aTa	p.R71I	WDYHV1_ENST00000287387.2_Missense_Mutation_p.R131I|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.R131I			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	131					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.R131I(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AGGAAATTTAGAGTGATCCGT	0.408000													12	104					6.72482e-11	8.33293e-11	0.479597	1	0
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:10930655C>A	ENST00000283141.6	+	19	1837	c.1541C>A	c.(1540-1542)aCc>aAc	p.T514N	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358000													10	119					1.76689e-08	2.0822e-08	0.335167	1	0
ZP1	22917	broad.mit.edu	37	11	60636728	60636728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:60636728G>T	ENST00000278853.5	+	2	307	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	103					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V103L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGCCACGTGCTGGAGAA	0.572000													4	17					0.00116845	0.0012394	0.217242	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407714	105407714	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105407714C>T	ENST00000333244.5	-	7	14193	c.14074G>A	c.(14074-14076)Gaa>Aaa	p.E4692K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4692						nucleus		p.E4692K(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTCCAACTTCTCCAACAGCA	0.413000													4	16					0	0	0.184627	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628585	20628585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:20628585G>T	ENST00000525748.1	+	4	985	c.712G>T	c.(712-714)Gct>Tct	p.A238S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	238					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A238S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATGATGCTGGCTCTGGCTGG	0.567000													41	66					8.30282e-39	1.4028e-38	0.870114	1	0
KIF27	55582	broad.mit.edu	37	9	86506225	86506225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:86506225T>A	ENST00000297814.2	-	6	1937	c.1794A>T	c.(1792-1794)agA>agT	p.R598S	KIF27_ENST00000334204.2_Missense_Mutation_p.R598S|KIF27_ENST00000413982.1_Missense_Mutation_p.R598S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	598					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R598S(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGGAATCTTGTCTTGATGGGA	0.358000													22	163					0	0	0.681144	0	0
FHDC1	85462	broad.mit.edu	37	4	153889217	153889217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153889217G>A	ENST00000511601.1	+	10	1374	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E396K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	396	FH2.				actin cytoskeleton organization		actin binding	p.E396K(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGGGATGGTGAACTTTGTCA	0.453000													29	93					0	0	0.740014	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336927	162336927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:162336927G>T	ENST00000493151.1	+	2	2673	c.306G>T	c.(304-306)gaG>gaT	p.E102D	NOS1AP_ENST00000361897.5_Missense_Mutation_p.E397D|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E83D|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E392D|NOS1AP_ENST00000454693.1_3'UTR	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	397	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.E397D(4)|p.E102D(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTAAGCCAGAGGACCTGCATT	0.667000													22	96					9.57634e-11	1.18257e-10	0.654019	1	0
RFC3	5983	broad.mit.edu	37	13	34404943	34404943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:34404943A>T	ENST00000380071.3	+	6	791	c.661A>T	c.(661-663)Aga>Tga	p.R221*	RFC3_ENST00000434425.1_Nonsense_Mutation_p.R221*	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.R221*(4)		lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAAGTCTTGTAGAAATCTCAG	0.433000													23	125					0	0	0.750413	0	0
IGLON5	402665	broad.mit.edu	37	19	51828677	51828677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51828677G>T	ENST00000270642.8	+	4	469	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	157	Ig-like C2-type 2.					extracellular region		p.V157L(2)		large_intestine(5)|lung(6)|prostate(1)	12						TTGCCTGGCCGTGGGGCGGCC	0.667000													11	20					6.72482e-11	8.33293e-11	0.479597	1	0
CSMD3	114788	broad.mit.edu	37	8	113569119	113569119	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113569119T>A	ENST00000297405.5	-	25	4351	c.4107A>T	c.(4105-4107)caA>caT	p.Q1369H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q1329H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q1265H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q1369H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7.					integral to membrane|plasma membrane		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAGTGGCCTTGGTCACTGA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			63	139					0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75097613	75097613	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:75097613C>G	ENST00000326665.5	-	7	822		c.e7-1		C1orf173_ENST00000420661.2_Splice_Site	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173									p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTGCCCTGTAATCATA	0.368000													21	407					0	0	0.639603	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596192	24596192	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24596192G>C	ENST00000535378.1	-	4	1325	c.683C>G	c.(682-684)cCc>cGc	p.P228R	KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.P237R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCGGCAAGGGAAGCAACAC	0.547000													5	132					0	0	0.217242	0	0
IFT80	57560	broad.mit.edu	37	3	159998598	159998598	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:159998598T>A	ENST00000326448.7	-	15	1953	c.1521A>T	c.(1519-1521)acA>acT	p.T507T	RP11-432B6.3_ENST00000483754.1_Silent_p.T678T|IFT80_ENST00000496589.1_Silent_p.T370T|IFT80_ENST00000483465.1_Silent_p.T370T	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	507						cilium axoneme|microtubule basal body		p.T507T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATGCACCATTGTTCCTTAAT	0.313000													19	37					0	0	0.608945	0	0
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:37026967G>C	ENST00000358047.3	+	1	536	c.484G>C	c.(484-486)Gca>Cca	p.A162P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTGGAGGACGCAGGCTCTTG	0.582000													22	16					0	0	0.639603	0	0
FAM171B	165215	broad.mit.edu	37	2	187626258	187626258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:187626258G>T	ENST00000304698.5	+	8	1392	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	397						integral to membrane	DNA binding	p.V397F(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAACTTGAGGTCCTCAAGAG	0.358000													89	265					1.2136e-71	2.33037e-71	0.870114	1	0
KIAA0020	9933	broad.mit.edu	37	9	2820099	2820099	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:2820099C>A	ENST00000397885.2	-	13	1395		c.e13-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum|nucleolus	RNA binding	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGTATTGGCCCTGCAAGAATT	0.403000													10	97					2.31682e-05	2.57082e-05	0.479597	1	0
SAMHD1	25939	broad.mit.edu	37	20	35540928	35540928	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:35540928G>A	ENST00000262878.4	-	10	1289	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.H149Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	364					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.H364Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGCGAGTGTGGAACATGTCA	0.328000													39	113					0	0	0.870114	0	0
GPR141	353345	broad.mit.edu	37	7	37780650	37780650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:37780650C>A	ENST00000447769.1	+	4	944	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.Q219K			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	219						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q219K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTATCCCACCAGGAGTTCTG	0.418000													123	549					9.13576e-48	1.61932e-47	0.870114	1	0
KIAA0930	23313	broad.mit.edu	37	22	45598869	45598869	+	Splice_Site	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:45598869A>C	ENST00000336156.4	-	7	918		c.e7+1		KIAA0930_ENST00000443310.3_Splice_Site|KIAA0930_ENST00000391627.2_Splice_Site|KIAA0930_ENST00000251993.7_Splice_Site	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding	p.?(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCAGCCCTTACCCGCTCGTG	0.652000													12	12					0	0	0.435327	0	0
MYO1G	64005	broad.mit.edu	37	7	45011815	45011815	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:45011815C>G	ENST00000258787.7	-	6	764	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	210	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.G210R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTCACTGCCTCTCAGCAAC	0.507000													8	21					0	0	0.335167	0	0
RAB15	376267	broad.mit.edu	37	14	65417768	65417768	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:65417768C>T	ENST00000267512.5	-	4	428	c.348G>A	c.(346-348)ccG>ccA	p.P116P	CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000426039.3_Intron|RAB15_ENST00000436278.2_Silent_p.P70P|RAB15_ENST00000533601.2_Intron	NM_198686.2	NP_941959.1	P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.P116P(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CTCCACACCCCGGCAGTGAGG	0.562000													3	54					0	0	0.115264	0	0
CHPF	79586	broad.mit.edu	37	2	220404338	220404338	+	Missense_Mutation	SNP	C	C	G	rs149014949		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220404338C>G	ENST00000243776.6	-	4	2343	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	CHPF_ENST00000535926.1_Missense_Mutation_p.E537Q	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	699						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.E699Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCAGCTCCTCTTCTTGTTCT	0.647000													4	51					0	0	0.278610	0	0
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141734530G>T	ENST00000475668.2	+	16	1902	c.1848G>T	c.(1846-1848)gcG>gcT	p.A616A	MGAM_ENST00000549489.2_Silent_p.A616A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	616	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A616A(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCTTTGCGGGCTCTGGCA	0.498000													22	181					1.42536e-11	1.78871e-11	0.681144	1	0
ADAM20	8748	broad.mit.edu	37	14	70991190	70991190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70991190C>A	ENST00000256389.3	-	2	679	c.435G>T	c.(433-435)caG>caT	p.Q145H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	95					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q145H(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAGGGCATGCTGCTCTGTGT	0.522000													84	461					5.70515e-31	9.19446e-31	0.870114	1	0
KLHL20	27252	broad.mit.edu	37	1	173735426	173735426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:173735426G>T	ENST00000209884.4	+	8	1429	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E242D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	431					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.E431D(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTGTTGAGAGGTGATCTT	0.428000													151	353					2.18101e-91	4.25592e-91	0.870114	1	0
MGAM	8972	broad.mit.edu	37	7	141755465	141755465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141755465C>A	ENST00000475668.2	+	28	3476	c.3422C>A	c.(3421-3423)tCc>tAc	p.S1141Y	MGAM_ENST00000549489.2_Missense_Mutation_p.S1141Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1141	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1141Y(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCACAGGTCCTATAGGAGA	0.542000													41	93					4.86159e-25	7.45766e-25	0.870114	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73165952	73165952	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:73165952A>T	ENST00000545377.1	+	21	2660	c.2484A>T	c.(2482-2484)gcA>gcT	p.A828A	ARHGEF28_ENST00000296799.4_Silent_p.A515A|ARHGEF28_ENST00000513042.2_Silent_p.A828A|ARHGEF28_ENST00000426542.2_Silent_p.A828A|ARHGEF28_ENST00000296794.6_Silent_p.A828A|ARHGEF28_ENST00000287898.5_Silent_p.A828A|ARHGEF28_ENST00000437974.1_Silent_p.A828A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A828A(4)									AGTTTGAAGCAGAATCTTGGA	0.408000													94	309					0	0	0.870114	0	0
OR51D1	390038	broad.mit.edu	37	11	4661635	4661635	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4661635C>G	ENST00000357605.2	+	1	691	c.615C>G	c.(613-615)acC>acG	p.T205T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T205T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTGACACCAGGGTCAATG	0.468000													220	506					0	0	0.870114	0	0
MYH14	79784	broad.mit.edu	37	19	50779265	50779265	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:50779265G>C	ENST00000440075.2	+	28	3532	c.3485G>C	c.(3484-3486)gGg>gCg	p.G1162A	MYH14_ENST00000601313.1_Missense_Mutation_p.G1162A|MYH14_ENST00000262269.8_Missense_Mutation_p.G1162A|MYH14_ENST00000425460.1_Missense_Mutation_p.G1129A|MYH14_ENST00000376970.2_Missense_Mutation_p.G1154A|MYH14_ENST00000596571.1_Missense_Mutation_p.G1121A|MYH14_ENST00000598205.1_Missense_Mutation_p.G1129A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1121					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G1121A(2)|p.G1162A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGAGGGTGGGGCCCGGGCC	0.647000													3	14					0	0	0.115264	0	0
MGAM	8972	broad.mit.edu	37	7	141765177	141765177	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141765177C>A	ENST00000475668.2	+	38	4581	c.4527C>A	c.(4525-4527)acC>acA	p.T1509T	MGAM_ENST00000549489.2_Silent_p.T1509T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1509	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.T1509T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGTCATCACCCGCTCCACAT	0.597000													15	14					1.02788e-11	1.29442e-11	0.520397	1	0
STK31	56164	broad.mit.edu	37	7	23826529	23826529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:23826529C>A	ENST00000354639.3	+	20	2868	c.2404C>A	c.(2404-2406)Cct>Act	p.P802T	STK31_ENST00000433467.2_Missense_Mutation_p.P825T|STK31_ENST00000355870.3_Missense_Mutation_p.P825T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.P802T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.P825T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCAACATGCCTTTAAATTC	0.368000													63	521					4.59617e-45	8.05445e-45	0.870114	1	0
VWF	7450	broad.mit.edu	37	12	6135206	6135206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:6135206C>A	ENST00000261405.5	-	23	3228	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	992	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.V992L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCACACACTTTCTCCTTG	0.557000													34	196					3.61848e-18	5.10262e-18	0.834066	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045525	142045525	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142045525C>A	ENST00000390392.3	+	0	164																											CCCGCAGTCCCCATGGAAACG	0.478000													28	375					1.39806e-14	1.84196e-14	0.729181	1	0
CFHR5	81494	broad.mit.edu	37	1	196967432	196967432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196967432C>A	ENST00000367414.5	+	7	1273	c.1217C>A	c.(1216-1218)aCa>aAa	p.T406K	CFHR5_ENST00000256785.4_Missense_Mutation_p.T382K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	382	Sushi 7.				complement activation, alternative pathway	extracellular region		p.T382K(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAGACTGCACAGGTAAGATT	0.294000													13	68					3.45872e-05	3.83005e-05	0.500413	1	0
GAK	2580	broad.mit.edu	37	4	905514	905514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:905514T>A	ENST00000314167.4	-	4	439	c.329A>T	c.(328-330)gAg>gTg	p.E110V	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	110	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.E110V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTCTGACTCCTCTTTTCCTAT	0.507000													5	32					0	0	0.278610	0	0
ENAH	55740	broad.mit.edu	37	1	225699552	225699552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:225699552C>A	ENST00000366844.2	-	10	1883	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	ENAH_ENST00000366843.2_Nonsense_Mutation_p.E478*|ENAH_ENST00000284563.6_Nonsense_Mutation_p.E725*	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	478	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	p.E478*(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTACAGGCTCTGAATCTTCC	0.313000													10	28					0.0202918	0.0208898	0.457914	1	0
CNTN2	6900	broad.mit.edu	37	1	205042265	205042265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:205042265C>A	ENST00000331830.4	+	22	3198	c.2914C>A	c.(2914-2916)Cca>Aca	p.P972T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	972	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P972T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATAGAAATCCCAGTGCCTGA	0.557000													15	85					1.49906e-05	1.67197e-05	0.457914	1	0
SPEG	10290	broad.mit.edu	37	2	220353298	220353298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220353298G>T	ENST00000312358.7	+	33	8069	c.7937G>T	c.(7936-7938)cGg>cTg	p.R2646L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2646	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2646L(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCATCCCCCGGGCGGGCAAG	0.642000													4	13					1.024e-07	1.18736e-07	0.184627	1	0
TMEM176A	55365	broad.mit.edu	37	7	150500824	150500824	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:150500824C>T	ENST00000484928.1	+	5	1040	c.459C>T	c.(457-459)atC>atT	p.I153I	TMEM176A_ENST00000004103.3_Silent_p.I153I|TMEM176A_ENST00000461345.1_Silent_p.I94I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	153						integral to membrane		p.I153I(2)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCGCATCTCCAGCTCGA	0.512000													26	55					0	0	0.729181	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775904	77775904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77775904G>C	ENST00000521891.2	+	11	10402	c.9954G>C	c.(9952-9954)caG>caC	p.Q3318H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3269H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3273H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3292H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3269						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q3302H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTTgcagcagtaccaacagt	0.527000										HNSCC(33;0.089)			12	23					0	0	0.387290	0	0
PTH2R	5746	broad.mit.edu	37	2	209302554	209302554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:209302554C>A	ENST00000272847.2	+	4	572	c.359C>A	c.(358-360)gCc>gAc	p.A120D	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	120						integral to plasma membrane	parathyroid hormone receptor activity	p.A120D(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AAAACATGGGCCAATTATTCA	0.403000													12	176					1.99824e-07	2.30713e-07	0.520397	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811061	69811061	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:69811061C>T	ENST00000251566.4	-	2	857	c.827G>A	c.(826-828)gGa>gAa	p.G276E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	276						integral to membrane	glucuronosyltransferase activity	p.G276E(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAATCCTCCAACAAACTC	0.368000													46	210					0	0	0.870114	0	0
COL11A1	1301	broad.mit.edu	37	1	103347308	103347308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:103347308G>T	ENST00000358392.2	-	65	5338	c.5021C>A	c.(5020-5022)tCa>tAa	p.S1674*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.S1623*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.S1546*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.S1662*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1662	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.S1674*(1)|p.S1662*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTGGCCATGATGAAATTCT	0.318000													10	86					9.31168e-06	1.0472e-05	0.435327	1	0
ZNF592	9640	broad.mit.edu	37	15	85326477	85326477	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:85326477G>C	ENST00000299927.3	+	1	593	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	ZNF592_ENST00000560079.2_Missense_Mutation_p.V191L			Q92610	ZN592_HUMAN	zinc finger protein 592	191					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAGTTTCCGGTTCCAGAGCT	0.537000													29	89					0	0	0.729181	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872401	125872401	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:125872401C>G	ENST00000393434.2	-	7	1093	c.744G>C	c.(742-744)acG>acC	p.T248T	ALDH1L1_ENST00000455064.2_Silent_p.T73T|ALDH1L1_ENST00000393431.2_Silent_p.T248T|ALDH1L1_ENST00000273450.3_Silent_p.T258T|ALDH1L1_ENST00000472186.1_Silent_p.T248T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Silent_p.T147T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	248					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.T248T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGTGTTCAGCGTTGAGTTGA	0.562000													13	70					0	0	0.479597	0	0
ABCA9	10350	broad.mit.edu	37	17	67039769	67039769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:67039769C>A	ENST00000340001.4	-	6	872	c.661G>T	c.(661-663)Gtt>Ttt	p.V221F	ABCA9_ENST00000495634.1_Missense_Mutation_p.V221F|ABCA9_ENST00000453985.2_Missense_Mutation_p.V221F|ABCA9_ENST00000370732.2_Missense_Mutation_p.V221F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	221					transport	integral to membrane	ATP binding|ATPase activity	p.V221F(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCAGTTGCAACTCCTCCTTGG	0.328000													31	227					2.1956e-27	3.42134e-27	0.796494	1	0
CPEB1	64506	broad.mit.edu	37	15	83215961	83215961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:83215961G>A	ENST00000563800.1	-	10	3232	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*	CPEB1_ENST00000568757.1_Nonsense_Mutation_p.Q401*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.Q476*|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.Q481*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.Q479*|RP11-152F13.10_ENST00000562833.1_Silent_p.T210T|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.Q406*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.Q250*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	481	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.Q406*(2)|p.Q476*(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAACTCCGTTGGTTATTGAAA	0.413000													25	92					0	0	0.717897	0	0
SOAT2	8435	broad.mit.edu	37	12	53515143	53515143	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:53515143C>T	ENST00000301466.3	+	12	1254	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	398					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.V398V(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACGTGGTGGTCCATGACTGGC	0.567000													8	140					0	0	0.361761	0	0
FCGBP	8857	broad.mit.edu	37	19	40433455	40433455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:40433455G>T	ENST00000221347.6	-	2	821	c.814C>A	c.(814-816)Cag>Aag	p.Q272K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	272	IgGFc-binding.					extracellular region	protein binding	p.Q272K(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTGTGGCCTGGCTGGCCACA	0.602000													13	49					3.45872e-05	3.83005e-05	0.500413	1	0
GBP1	2633	broad.mit.edu	37	1	89523812	89523812	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:89523812T>G	ENST00000370473.4	-	6	956	c.737A>C	c.(736-738)aAg>aCg	p.K246T		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	246					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.K246T(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTGGGCAAGCTTCCTGCGGTG	0.433000													8	233					0	0	0.411799	0	0
PAXIP1	22976	broad.mit.edu	37	7	154775016	154775016	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:154775016C>A	ENST00000404141.1	-	5	505	c.351G>T	c.(349-351)ctG>ctT	p.L117L	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.L117L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	117	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.L83L(2)|p.L117L(2)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCAAAGCCCACAGGGCACTTC	0.423000													4	77					2.0095e-06	2.27883e-06	0.248553	1	0
ZAN	7455	broad.mit.edu	37	7	100382441	100382441	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100382441T>C	ENST00000542585.1	+	0	6964				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.H2272H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGATGCCCATGGTGGCTCCA	0.582000													5	52					0	0	0.248553	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604640	108604640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:108604640C>A	ENST00000264047.2	+	2	305	c.29C>A	c.(28-30)gCt>gAt	p.A10D	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A10D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	10					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.A10D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGACTGATAGCTATCATCGTG	0.443000													49	162					7.91745e-34	1.29526e-33	0.870114	1	0
OR10S1	219873	broad.mit.edu	37	11	123848123	123848123	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:123848123G>T	ENST00000531945.1	-	1	365	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATGACCTTGGGCACTGTCA	0.547000													16	275					3.62473e-10	4.41077e-10	0.608945	1	0
ZNF419	79744	broad.mit.edu	37	19	58005013	58005013	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:58005013G>A	ENST00000424930.2	+	5	1320	c.1091G>A	c.(1090-1092)cGt>cAt	p.R364H	ZNF419_ENST00000415379.2_Missense_Mutation_p.R317H|ZNF419_ENST00000442920.2_Missense_Mutation_p.R350H|ZNF419_ENST00000426954.2_Missense_Mutation_p.R351H|ZNF419_ENST00000354197.4_Missense_Mutation_p.R351H|ZNF419_ENST00000347466.6_Missense_Mutation_p.R331H|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Missense_Mutation_p.R363H	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R331H(1)|p.R338H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAACATTGGCGTGTTCATACT	0.413000													4	105					0	0	0.150653	0	0
CHST13	166012	broad.mit.edu	37	3	126255153	126255153	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:126255153G>C	ENST00000319340.2	+	2	187	c.137G>C	c.(136-138)gGg>gCg	p.G46A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	46					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.G46A(2)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGGCTTGGTGGGGAGAAGAGA	0.607000													7	29					0	0	0.435327	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5319167	5319167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:5319167C>A	ENST00000274181.7	+	23	3729	c.3591C>A	c.(3589-3591)tgC>tgA	p.C1197*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1197	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1197*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCACTGGTGCTACCTGGTAC	0.532000													41	99					3.54909e-21	5.17317e-21	0.859065	1	0
UMODL1	89766	broad.mit.edu	37	21	43524089	43524089	+	Missense_Mutation	SNP	G	G	T	rs150059583		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:43524089G>T	ENST00000400427.1	+	9	1591	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	UMODL1_ENST00000408910.2_Missense_Mutation_p.V471L|C21orf128_ENST00000329015.2_Missense_Mutation_p.H48Q|UMODL1_ENST00000400424.1_Missense_Mutation_p.V399L|UMODL1_ENST00000408989.2_Missense_Mutation_p.V471L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	471	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.H48Q(4)|p.V399L(2)|p.V471L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGCTCACCGTGCAGGACCC	0.607000													17	71					7.21436e-19	1.02266e-18	0.575678	1	0
PLXND1	23129	broad.mit.edu	37	3	129279567	129279567	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:129279567C>G	ENST00000393239.1	-	30	5172		c.e30-1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(2)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AAGTCTTTCACTGTGAGAGGA	0.483000													6	15					0	0	0.278610	0	0
UNC5B	219699	broad.mit.edu	37	10	73047403	73047403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:73047403G>T	ENST00000335350.6	+	6	1198	c.782G>T	c.(781-783)cGc>cTc	p.R261L	UNC5B_ENST00000373192.4_Missense_Mutation_p.R261L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	261	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.R261L(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCTCCAACCGCTGTGGCCGA	0.667000													9	35					5.4927e-09	6.55132e-09	0.307466	1	0
MXRA5	25878	broad.mit.edu	37	X	3241316	3241316	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:3241316A>C	ENST00000217939.6	-	5	2564	c.2410T>G	c.(2410-2412)Ttg>Gtg	p.L804V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	804						extracellular region		p.L804V(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTTAATCAATGGGGGTACT	0.473000													10	242					0	0	0.411799	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306857	126306857	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:126306857G>A	ENST00000525144.2	-	12	1650	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	KIRREL3_ENST00000525704.2_Silent_p.R467R|KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000529097.2_Silent_p.R467R	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	467	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R467R(4)|p.R426R(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCACCGTATAGCGCCCCGATG	0.642000													6	17					0	0	0.248553	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719903	52719903	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:52719903A>T	ENST00000322088.6	+	9	1173	c.1115A>T	c.(1114-1116)cAg>cTg	p.Q372L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q317L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q193L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	372	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.Q372L(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCCTGGCTCAGCTGAAGGAT	0.552000			Mis		clear cell ovarian carcinoma								28	77					0	0	0.779181	0	0
CALU	813	broad.mit.edu	37	7	128394426	128394426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128394426G>T	ENST00000535623.1	+	4	1299	c.356G>T	c.(355-357)cGa>cTa	p.R119L	CALU_ENST00000542996.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.R119L|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.R111L|CALU_ENST00000449187.2_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.R111L	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	111	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	p.R111L(2)		kidney(2)|large_intestine(3)|lung(5)	10						GATGTAGAGCGACAGTGGAAG	0.483000													33	84					1.57351e-24	2.40016e-24	0.788014	1	0
CUBNP3	100421634	broad.mit.edu	37	10	45644305	45644305	+	RNA	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:45644305T>G	ENST00000427229.2	+	0	476																											TTTGAAGATTTTTACCTAGAA	0.348000													28	66					0	0	0.804634	0	0
TPO	7173	broad.mit.edu	37	2	1544403	1544403	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:1544403G>A	ENST00000345913.4	+	16	2747	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	TPO_ENST00000382201.3_Missense_Mutation_p.E829K|TPO_ENST00000382198.1_Missense_Mutation_p.E713K|TPO_ENST00000349624.3_Missense_Mutation_p.E713K|TPO_ENST00000346956.3_Missense_Mutation_p.E842K|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.E886K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	886					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E886K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCATCTCGGAGACAGGCGG	0.642000													10	55					0	0	0.387290	0	0
LETMD1	25875	broad.mit.edu	37	12	51442900	51442900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:51442900G>T	ENST00000418425.2	+	2	225	c.206G>T	c.(205-207)gGg>gTg	p.G69V	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.G69V|LETMD1_ENST00000550929.1_Missense_Mutation_p.G13V|LETMD1_ENST00000262055.4_Missense_Mutation_p.G69V|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.G69V	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	69	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding	p.G69V(2)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCGATTAATGGGAAATACCAT	0.398000													41	64					4.17328e-34	6.83762e-34	0.870114	1	0
MAML2	84441	broad.mit.edu	37	11	95713012	95713012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:95713012C>T	ENST00000524717.1	-	5	3855	c.2571G>A	c.(2569-2571)atG>atA	p.M857I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	857					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.M857I(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATAATGATGGCATTCTTGTCC	0.413000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								14	212					0	0	0.500413	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036447	33036447	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:33036447G>A	ENST00000419277.1	-	5	892	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.R255W	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	255					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.R255W(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCCTGGGCCCGGGGGTCATGG	0.542000													6	56					0	0	0.278610	0	0
RICTOR	253260	broad.mit.edu	37	5	38947422	38947422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:38947422C>A	ENST00000357387.3	-	32	4288	c.4258G>T	c.(4258-4260)Ggt>Tgt	p.G1420C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1444C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1420					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G1420C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATCTGAACCCCCATATGTG	0.383000													64	434					3.56499e-28	5.61992e-28	0.870114	1	0
MCPH1	79648	broad.mit.edu	37	8	6338368	6338368	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:6338368C>T	ENST00000344683.5	+	11	2183	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	703	BRCT 2.					microtubule organizing center		p.R703C(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAATTGCGCGTGGCTGCTG	0.512000													15	100					0	0	0.539581	0	0
VWA5A	4013	broad.mit.edu	37	11	124007382	124007382	+	Splice_Site	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:124007382G>C	ENST00000456829.2	+	14	1876		c.e14+1		VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A									p.?(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGATGTCAAGTGAGAATTCA	0.488000													30	306					0	0	0.819951	0	0
EDA2R	60401	broad.mit.edu	37	X	65824892	65824892	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:65824892G>A	ENST00000374719.3	-	3	320	c.264C>T	c.(262-264)ccC>ccT	p.P88P	EDA2R_ENST00000450752.1_Silent_p.P88P|EDA2R_ENST00000253392.5_Silent_p.P88P|EDA2R_ENST00000396050.1_Silent_p.P88P|EDA2R_ENST00000456230.2_Silent_p.P88P|EDA2R_ENST00000451436.2_Intron	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	88					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.P88P(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCTCACCTGGGCAAACAGT	0.478000													19	28					0	0	0.575678	0	0
MNDA	4332	broad.mit.edu	37	1	158815548	158815548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158815548C>A	ENST00000368141.4	+	5	1003	c.742C>A	c.(742-744)Cat>Aat	p.H248N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	248	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H248N(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAATATTTCCATGTGAAAGT	0.378000													51	149					1.40541e-12	1.80552e-12	0.870114	1	0
PHOX2B	8929	broad.mit.edu	37	4	41750491	41750491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:41750491G>T	ENST00000226382.2	-	1	496	c.137C>A	c.(136-138)cCg>cAg	p.P46Q	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	46					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.P46Q(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGTCCTTATCGGGTTATACTG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	52					0.00116845	0.0012394	0.217242	1	0
TSPAN33	340348	broad.mit.edu	37	7	128806740	128806740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128806740C>A	ENST00000289407.4	+	6	690	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	194						integral to membrane		p.P194H(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGCCTACTCCTGACCAGGTG	0.557000													38	131					1.465e-08	1.73021e-08	0.840704	1	0
USO1	8615	broad.mit.edu	37	4	76703986	76703986	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:76703986T>A	ENST00000538159.1	+	9	836	c.836T>A	c.(835-837)gTg>gAg	p.V279E	USO1_ENST00000514213.2_Missense_Mutation_p.V262E			O60763	USO1_HUMAN	USO1 vesicle transport factor	277	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.V279E(1)|p.V205E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCACAGAAAGTGACCAATCTA	0.338000													5	130					0	0	0.248553	0	0
PRKCB	5579	broad.mit.edu	37	16	24046867	24046867	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24046867C>A	ENST00000303531.7	+	5	680	c.529_splice	c.e5+1	p.L176_splice	PRKCB_ENST00000321728.7_Splice_Site_p.L176_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	176	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.L176L(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCATTGTCCTCGGTAGGTGGC	0.647000													29	129					9.65021e-13	1.24271e-12	0.750413	1	0
LRRC66	339977	broad.mit.edu	37	4	52860545	52860545	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:52860545T>G	ENST00000343457.3	-	4	2649	c.2643A>C	c.(2641-2643)taA>taC	p.*881Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	0						integral to membrane		p.*881Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGATTCTTATTTTAAAA	0.383000													12	159					0	0	0.411799	0	0
REG1P	5969	broad.mit.edu	37	2	79364020	79364020	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79364020C>A	ENST00000444841.1	-	0	318																											AGCACAGACACCAGGTTACCT	0.517000													28	207					6.97489e-18	9.75943e-18	0.804634	1	0
EXT2	2132	broad.mit.edu	37	11	44228502	44228502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:44228502G>T	ENST00000395673.3	+	10	1810	c.1754G>T	c.(1753-1755)gGt>gTt	p.G585V	EXT2_ENST00000343631.3_Missense_Mutation_p.G552V|EXT2_ENST00000533608.1_Missense_Mutation_p.G552V|EXT2_ENST00000358681.4_Missense_Mutation_p.G562V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGCAATTTGGTTATGAGGTA	0.348000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				71	314					1.4648e-57	2.68879e-57	0.870114	1	0
IGHG1	3500	broad.mit.edu	37	14	106208131	106208131	+	RNA	SNP	C	C	G	rs1127807		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:106208131C>G	ENST00000390548.2	-	0	671																											CTCGGGGCTGCCCTGTAGGGA	0.647000													23	42					0	0	0.750413	0	0
GNAQ	2776	broad.mit.edu	37	9	80537207	80537207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:80537207C>A	ENST00000286548.4	-	2	413	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	64					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.G64V(2)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTATCCTGACCCATGGATGAT	0.483000			Mis		uveal melanoma								181	635					4.16634e-53	7.50773e-53	0.870114	1	0
AKAP6	9472	broad.mit.edu	37	14	33015542	33015542	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:33015542T>C	ENST00000280979.4	+	4	1853	c.1683T>C	c.(1681-1683)agT>agC	p.S561S	AKAP6_ENST00000557354.1_Silent_p.S561S|AKAP6_ENST00000557272.1_Silent_p.S561S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	561					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCAGAGAAGTTGGAATGCCA	0.458000													7	424					0	0	0.278610	0	0
GAS2	2620	broad.mit.edu	37	11	22707259	22707259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:22707259G>T	ENST00000454584.2	+	3	496	c.191G>T	c.(190-192)gGt>gTt	p.G64V	GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Missense_Mutation_p.G64V|GAS2_ENST00000433790.1_Missense_Mutation_p.G64V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	64	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		p.G64V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTGGACAATGGTGCCTTGCTC	0.383000													25	149					1.2476e-16	1.71684e-16	0.706142	1	0
COL25A1	84570	broad.mit.edu	37	4	109861765	109861765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:109861765C>A	ENST00000399132.1	-	10	1132	c.602G>T	c.(601-603)gGc>gTc	p.G201V	COL25A1_ENST00000399127.1_Missense_Mutation_p.G197V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G201V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	201	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G201V(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGAGGGCCAGGGGGTCC	0.562000													5	67					0.000157383	0.000171994	0.278610	1	0
PCDH17	27253	broad.mit.edu	37	13	58209184	58209184	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:58209184G>C	ENST00000377918.3	+	1	2530	c.2504G>C	c.(2503-2505)aGc>aCc	p.S835T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	835					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S835T(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCACACCAGCTTCACCGGA	0.577000													4	22					0	0	0.150653	0	0
CD109	135228	broad.mit.edu	37	6	74440084	74440084	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:74440084A>T	ENST00000437994.2	+	4	725	c.294A>T	c.(292-294)gcA>gcT	p.A98A	CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Silent_p.A98A	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	98						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A98A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACAGTGCAGATGAGATTT	0.373000													32	113					0	0	0.847076	0	0
DSG3	1830	broad.mit.edu	37	18	29046538	29046538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:29046538C>A	ENST00000257189.4	+	11	1540	c.1457C>A	c.(1456-1458)cCc>cAc	p.P486H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	486	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P486H(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAGAGTACCCGATTTCAAT	0.378000													15	231					2.94398e-08	3.44685e-08	0.557998	1	0
RHOJ	57381	broad.mit.edu	37	14	63671738	63671738	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:63671738G>A	ENST00000316754.3	+	1	613	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RHOJ_ENST00000555125.1_Missense_Mutation_p.V51M|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	51					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.V51M(3)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAGGAATACGTGCCCACTGT	0.557000													28	208					0	0	0.827153	0	0
ZNF285	26974	broad.mit.edu	37	19	44891467	44891467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:44891467T>A	ENST00000330997.4	-	4	1004	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K321*|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K314*|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285									p.K314*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGTAGGGTTTGTCTCCTGAG	0.502000													17	132					0	0	0.592651	0	0
NPY2R	4887	broad.mit.edu	37	4	156135962	156135962	+	Missense_Mutation	SNP	G	G	T	rs147783618		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:156135962G>T	ENST00000329476.3	+	2	1360	c.871G>T	c.(871-873)Gtt>Ttt	p.V291F	NPY2R_ENST00000506608.1_Missense_Mutation_p.V291F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	291					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.V291F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAGCTTGCCGTTGACATTGA	0.527000													14	85					9.05144e-12	1.14251e-11	0.435327	1	0
LCE4A	199834	broad.mit.edu	37	1	152681629	152681629	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152681629C>T	ENST00000368777.1	+	2	334	c.78C>T	c.(76-78)ccC>ccT	p.P26P	LCE4A_ENST00000335535.3_Silent_p.P26P			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	26	Cys-rich.				keratinization			p.P26P(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAAAATGTCCCTCAAAGTGTG	0.572000													49	305					0	0	0.870114	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202398051	202398051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:202398051G>T	ENST00000406302.3	+	6	1068	c.915G>T	c.(913-915)caG>caT	p.Q305H	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q305H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	305					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.Q305H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAAGAAGCAGAATGTGGTGA	0.453000													17	88					6.33239e-15	8.42503e-15	0.592651	1	0
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:12880890G>T	ENST00000155926.4	+	3	2421	c.1002G>T	c.(1000-1002)atG>atT	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512000													48	179					9.53978e-28	1.49085e-27	0.870114	1	0
TNRC6C	57690	broad.mit.edu	37	17	76047196	76047196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:76047196G>A	ENST00000335749.4	+	3	2622	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	TNRC6C_ENST00000544502.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V685M|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V685M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	685	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.V685M(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCTTCTGTGAAACAGAC	0.552000													9	22					0	0	0.387290	0	0
GJB1	2705	broad.mit.edu	37	X	70443680	70443680	+	Missense_Mutation	SNP	G	G	T	rs116840816		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:70443680G>T	ENST00000374022.3	+	2	218	c.123G>T	c.(121-123)gaG>gaT	p.E41D	GJB1_ENST00000374029.1_Missense_Mutation_p.E41D|GJB1_ENST00000361726.6_Missense_Mutation_p.E41D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	41			E -> K (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	p.E41D(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTGCAGAGAGTGTGTGGG	0.532000													34	63					1.16512e-39	1.98089e-39	0.827153	1	0
SLC17A9	63910	broad.mit.edu	37	20	61588903	61588903	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:61588903T>C	ENST00000370349.3	+	4	554	c.350T>C	c.(349-351)tTc>tCc	p.F117S	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.F123S			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	123					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.F123S(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTCATGACCTTCTCACGCATC	0.647000													3	30					0	0	0.115264	0	0
DEPDC7	91614	broad.mit.edu	37	11	33054339	33054339	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:33054339G>A	ENST00000311388.3	+	7	1612	c.1236_splice	c.e7+1	p.K412_splice	DEPDC7_ENST00000241051.3_Splice_Site_p.K421_splice	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	421					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.K421K(2)|p.K412K(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ATGTTTTTAAGGTAAAATTGT	0.294000													18	88					0	0	0.654019	0	0
RIMS2	9699	broad.mit.edu	37	8	104943527	104943527	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:104943527A>G	ENST00000507740.1	+	9	1893	c.1657A>G	c.(1657-1659)Ata>Gta	p.I553V	RIMS2_ENST00000262231.10_Missense_Mutation_p.I600V|RIMS2_ENST00000406091.3_Missense_Mutation_p.I761V|RIMS2_ENST00000436393.2_Missense_Mutation_p.I539V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	823					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.I553V(4)|p.I828V(2)|p.I539V(2)|p.I761V(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACCAATTAATAGTTACAAT	0.338000										HNSCC(12;0.0054)			14	126					0	0	0.500413	0	0
C1QB	713	broad.mit.edu	37	1	22986096	22986096	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:22986096C>A	ENST00000509305.1	+	2	487	c.141C>A	c.(139-141)ccC>ccA	p.P47P	C1QB_ENST00000314933.6_Silent_p.P49P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	49	Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.P49P(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTGGCCCCGATGGCCAAC	0.602000													26	60					1.06801e-11	1.34339e-11	0.740014	1	0
LAMA2	3908	broad.mit.edu	37	6	129511367	129511367	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:129511367A>T	ENST00000421865.2	+	11	1534	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	495	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G495G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAAGGAGGAGACTGTAGTC	0.403000													38	125					0	0	0.870114	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530120	80530120	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:80530120C>A	ENST00000295057.3	-	2	1481	c.825G>T	c.(823-825)gtG>gtT	p.V275V	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.V275V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	275						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V275V(4)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGTCTCGAACACATGGGGCT	0.582000										HNSCC(69;0.2)			8	28					0.00448238	0.00470846	0.307466	1	0
ARMC5	79798	broad.mit.edu	37	16	31471201	31471201	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:31471201C>T	ENST00000457010.2	+	1	1057	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ARMC5_ENST00000408912.3_Missense_Mutation_p.P214L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P119L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P151L|ARMC5_ENST00000563544.1_Missense_Mutation_p.P119L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	119							binding	p.P214L(2)|p.P119L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGTCTAGTCCTACGCCGCCA	0.726000													7	20					0	0	0.278610	0	0
OR2M7	391196	broad.mit.edu	37	1	248487614	248487614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248487614A>T	ENST00000317965.2	-	1	285	c.257T>A	c.(256-258)tTg>tAg	p.L86*		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L86*(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCAGACAAGTAGTTGAA	0.493000													261	865					0	0	0.870114	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414155	38414155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:38414155C>A	ENST00000377694.1	-	2	528	c.506G>T	c.(505-507)gGg>gTg	p.G169V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	169	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding	p.G169V(2)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CACCTGCGCCCCGGTGACGTT	0.577000													15	76					4.35082e-09	5.20081e-09	0.592651	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:46032564G>T	ENST00000334662.2	+	1	569	c.547G>T	c.(547-549)Gct>Tct	p.A183S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A183S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGGGCTTCCTCTCT	0.632000													93	338					1.8585e-67	3.53735e-67	0.870114	1	0
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652000													5	11					0	0	0.248553	0	0
LIG4	3981	broad.mit.edu	37	13	108861585	108861585	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:108861585G>A	ENST00000356922.4	-	2	2304	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	LIG4_ENST00000405925.1_Silent_p.L678L|LIG4_ENST00000442234.1_Silent_p.L678L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	678	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.L678L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGTTCTCCAGGTCAGGCTTT	0.383000								Non-homologous end-joining					8	26					0	0	0.361761	0	0
DCHS2	54798	broad.mit.edu	37	4	155298498	155298498	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155298498G>T	ENST00000357232.3	-	3	332	c.333C>A	c.(331-333)atC>atA	p.I111I	DCHS2_ENST00000339452.1_Silent_p.I717I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	111	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I111I(2)|p.I717I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGAGGGTCGATCCGGAATG	0.463000													179	561					3.24732e-118	6.4176e-118	0.870114	1	0
LRRC7	57554	broad.mit.edu	37	1	70504811	70504811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:70504811A>G	ENST00000310961.5	+	22	3623	c.3205A>G	c.(3205-3207)Aaa>Gaa	p.K1069E	LRRC7_ENST00000035383.5_Missense_Mutation_p.K1064E|LRRC7_ENST00000415775.2_Missense_Mutation_p.K348E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1064						centrosome|focal adhesion|nucleolus	protein binding	p.K1064E(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCAGCAAAAACATCGC	0.463000													20	54					0	0	0.592651	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936140	94936140	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94936140C>G	ENST00000337425.5	-	2	166	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.G13A|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G31A	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	13					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.G31A(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGCACAGAGGCCAACAGCAAA	0.517000													255	843					0	0	0.870114	0	0
C9orf72	203228	broad.mit.edu	37	9	27556699	27556699	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:27556699C>T	ENST00000380003.3	-	8	1014	c.951G>A	c.(949-951)caG>caA	p.Q317Q	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	317								p.Q317Q(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AGGGTGGCATCTGCTTCACAG	0.473000													12	176					0	0	0.479597	0	0
VSNL1	7447	broad.mit.edu	37	2	17836616	17836616	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:17836616C>A	ENST00000406397.1	+	4	1056	c.531C>A	c.(529-531)agC>agA	p.S177R	VSNL1_ENST00000295156.4_Missense_Mutation_p.S177R|VSNL1_ENST00000404666.2_Missense_Mutation_p.S177R			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4.						calcium ion binding	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443000													35	318					6.07928e-31	9.78285e-31	0.847076	1	0
HSPH1	10808	broad.mit.edu	37	13	31713001	31713001	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:31713001C>T	ENST00000320027.5	-	16	2469	c.2125G>A	c.(2125-2127)Gct>Act	p.A709T	HSPH1_ENST00000380405.4_Missense_Mutation_p.A665T|HSPH1_ENST00000429785.2_Missense_Mutation_p.A528T|HSPH1_ENST00000445273.2_Missense_Mutation_p.A711T|HSPH1_ENST00000380406.5_Missense_Mutation_p.A668T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	709					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.A709T(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGTTCTTCAGCTTCCTGAAAC	0.328000													17	139					0	0	0.608945	0	0
XIST	7503	broad.mit.edu	37	X	73066574	73066574	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:73066574G>T	ENST00000429829.1	-	0	6014					NR_001564.2																						ACACATATTGGGAGGCCAAGA	0.468000													5	60					0.014758	0.0152218	0.184627	1	0
CLCN4	1183	broad.mit.edu	37	X	10176257	10176257	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:10176257G>C	ENST00000380833.4	+	9	1407	c.1016G>C	c.(1015-1017)gGg>gCg	p.G339A	CLCN4_ENST00000380829.1_Intron|CLCN4_ENST00000421085.2_Missense_Mutation_p.G245A	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	339						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.G339A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCTGCTTGGGGTCTTCGGG	0.572000													9	245					0	0	0.479597	0	0
LTBP1	4052	broad.mit.edu	37	2	33359928	33359928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:33359928G>T	ENST00000404816.2	+	5	1455	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	LTBP1_ENST00000390003.4_Missense_Mutation_p.G42C|LTBP1_ENST00000354476.3_Missense_Mutation_p.G368C|LTBP1_ENST00000418533.2_Missense_Mutation_p.G42C|LTBP1_ENST00000407925.1_Missense_Mutation_p.G42C|LTBP1_ENST00000402934.1_Missense_Mutation_p.G42C|LTBP1_ENST00000404525.1_Missense_Mutation_p.G42C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	368					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G368C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACCAAGGGCAGCTGTCA	0.547000													67	192					6.5469e-37	1.09249e-36	0.870114	1	0
ZNF268	10795	broad.mit.edu	37	12	133779410	133779410	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:133779410A>T	ENST00000536435.2	+	6	1468	c.1138A>T	c.(1138-1140)Aaa>Taa	p.K380*	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.K219*|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.K380*|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	380						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTCACACCAGAAAACTCATTC	0.388000													11	17					0	0	0.411799	0	0
GRID1	2894	broad.mit.edu	37	10	87628799	87628799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:87628799C>A	ENST00000327946.7	-	6	1004	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	307						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D307Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCTGGGGGTCGCAGAGCAGG	0.582000										Multiple Myeloma(13;0.14)			77	113					4.02937e-33	6.54244e-33	0.870114	1	0
SETBP1	26040	broad.mit.edu	37	18	42533086	42533086	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:42533086A>G	ENST00000282030.5	+	4	4077	c.3781A>G	c.(3781-3783)Aaa>Gaa	p.K1261E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1261						nucleus	DNA binding	p.K1261E(1)|p.K1207E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCATGCACGAAAAGATACTC	0.537000									Schinzel-Giedion syndrome				4	95					0	0	0.248553	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555897	125555897	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:125555897G>A	ENST00000431078.1	+	19	3578	c.3214_splice	c.e19+1	p.G1072_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1072	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1072S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGCAAGAATGGTGAGTGTGA	0.498000													30	97					0	0	0.769981	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	48					0	0	0.184627	0	0
TRAV16	28667	broad.mit.edu	37	14	22459119	22459119	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22459119C>T	ENST00000390444.1	+	0	271																											ATCTTTCCACCTGAAGAAACC	0.463000													21	51					0	0	0.639603	0	0
LPPR4	9890	broad.mit.edu	37	1	99767413	99767413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:99767413A>C	ENST00000370185.3	+	6	1423	c.926A>C	c.(925-927)tAt>tCt	p.Y309S	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.Y151S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309							phosphatidate phosphatase activity	p.Y309S(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTTGATGTCTATTGTGGCTTT	0.358000													17	167					0	0	0.557998	0	0
RSPO2	340419	broad.mit.edu	37	8	109001368	109001368	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:109001368C>A	ENST00000517939.1	-	0	194				RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000276659.5_Missense_Mutation_p.G67W			Q6UXX9	RSPO2_HUMAN	R-spondin 2						Wnt receptor signaling pathway	extracellular region	heparin binding	p.G67W(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGGCGCATCCCTTCTCTTCGA	0.468000													147	295					8.54292e-67	1.62315e-66	0.870114	1	0
FCRLA	84824	broad.mit.edu	37	1	161680697	161680697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:161680697C>A	ENST00000540926.1	+	3	538	c.245C>A	c.(244-246)tCc>tAc	p.S82Y	FCRLA_ENST00000236938.6_Missense_Mutation_p.S93Y|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Missense_Mutation_p.S93Y|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367949.2_Missense_Mutation_p.S93Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.S53Y|FCRLA_ENST00000367959.2_Missense_Mutation_p.S99Y|FCRLA_ENST00000349527.4_Missense_Mutation_p.S76Y|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.S82Y|FCRLA_ENST00000309691.6_Missense_Mutation_p.S76Y			Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGATTGTGTCCTATGGTGAG	0.557000													43	117					3.50607e-19	4.9765e-19	0.870114	1	0
CUBN	8029	broad.mit.edu	37	10	16873350	16873350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:16873350G>T	ENST00000377833.4	-	65	10494	c.10429C>A	c.(10429-10431)Cct>Act	p.P3477T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3477	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P3477T(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAAGACAGGGTTTGGCAGC	0.393000													107	289					7.53784e-56	1.37432e-55	0.870114	1	0
HHATL	57467	broad.mit.edu	37	3	42738369	42738369	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:42738369C>A	ENST00000441594.1	-	9	1272	c.1010_splice	c.e9-1	p.T337_splice	HHATL_ENST00000310417.5_Splice_Site_p.T337_splice	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	337					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.T337T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGTCAAAGTGCCTGTAAGAGG	0.612000													7	29					0.0293803	0.0300178	0.248553	1	0
GLRX3	10539	broad.mit.edu	37	10	131958334	131958334	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:131958334G>T	ENST00000368644.1	+	3	298		c.e3+1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	p.?(4)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTTTTCAAGGTAAGGATAAA	0.368000													56	117					1.28914e-47	2.28128e-47	0.870114	1	0
LPA	4018	broad.mit.edu	37	6	160977165	160977165	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:160977165T>A	ENST00000447678.1	-	31	4985	c.4865A>T	c.(4864-4866)cAg>cTg	p.Q1622L	LPA_ENST00000316300.5_Missense_Mutation_p.Q1622L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4130	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Q1622L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGATAACTCTGGCCATTACC	0.483000													202	484					0	0	0.870114	0	0
TAF1L	138474	broad.mit.edu	37	9	32633787	32633787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:32633787C>A	ENST00000242310.4	-	1	1880	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	597					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCGAAGACCCTGTTGCTTGG	0.483000													137	337					1.61599e-48	2.87376e-48	0.870114	1	0
NLRC4	58484	broad.mit.edu	37	2	32477681	32477681	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:32477681G>T	ENST00000404025.2	-	4	557	c.69C>A	c.(67-69)atC>atA	p.I23I	NLRC4_ENST00000402280.1_Silent_p.I23I|NLRC4_ENST00000360906.5_Silent_p.I23I|NLRC4_ENST00000342905.6_Silent_p.I23I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	23	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I23I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTCATCTGTGATTTGCTTTA	0.393000													112	317					6.14176e-70	1.17518e-69	0.870114	1	0
COL4A2	1284	broad.mit.edu	37	13	111132683	111132683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:111132683G>T	ENST00000360467.5	+	31	3010	c.2704G>T	c.(2704-2706)Gga>Tga	p.G902*		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	902	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G902*(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGCCATCCAGGAAGCCCTGG	0.592000													6	18					0.0293803	0.0300178	0.248553	1	0
PLB1	151056	broad.mit.edu	37	2	28855888	28855888	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28855888C>T	ENST00000422425.2	+	55	4091	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	PLB1_ENST00000327757.5_Silent_p.I1360I|PLB1_ENST00000541605.1_Silent_p.I325I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.I1349I(2)|p.I1360I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGATGGCCATCGCACTCTGGA	0.547000													30	196					0	0	0.779181	0	0
PALB2	79728	broad.mit.edu	37	16	23634330	23634330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23634330C>A	ENST00000261584.4	-	9	3108	c.2956G>T	c.(2956-2958)Gat>Tat	p.D986Y	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	986	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.D986Y(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTTGTTGATCAGAAAGGGTC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					46	196					1.44317e-28	2.28168e-28	0.870114	1	0
PCYT1B	9468	broad.mit.edu	37	X	24597530	24597530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:24597530T>A	ENST00000379145.1	-	6	601	c.557A>T	c.(556-558)gAc>gTc	p.D186V	PCYT1B_ENST00000356768.4_Missense_Mutation_p.D204V|PCYT1B_ENST00000379144.2_Missense_Mutation_p.D204V|PCYT1B_ENST00000492876.1_5'UTR	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	204	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.D204V(4)|p.D186V(2)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGTAATGATGTCCGATGTTGA	0.428000													241	389					0	0	0.870114	0	0
GRIA4	2893	broad.mit.edu	37	11	105804494	105804494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:105804494C>A	ENST00000393127.2	+	14	2539	c.2093C>A	c.(2092-2094)tCa>tAa	p.S698*	GRIA4_ENST00000282499.5_Nonsense_Mutation_p.S698*|GRIA4_ENST00000530497.1_Nonsense_Mutation_p.S698*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.S698*	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	698					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.S698*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TACATGCGATCAGCAGAGCCA	0.408000													7	46					5.18039e-06	5.85633e-06	0.278610	1	0
NPC1	4864	broad.mit.edu	37	18	21140248	21140248	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:21140248G>A	ENST00000269228.5	-	6	1382	c.828C>T	c.(826-828)taC>taT	p.Y276Y	NPC1_ENST00000412552.2_Silent_p.Y9Y|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	276					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.Y276Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACGCCATGTAGGTGATCC	0.507000													12	207					0	0	0.435327	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661623	113661623	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:113661623G>T	ENST00000393544.2	+	0	1671																											TAGGAAGCCAGACTCCACTGC	0.507000													27	49					2.24059e-21	3.29249e-21	0.706142	1	0
CLDN14	23562	broad.mit.edu	37	21	37833580	37833580	+	Missense_Mutation	SNP	C	C	A	rs142846225	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:37833580C>A	ENST00000399137.1	-	3	1280	c.414G>T	c.(412-414)tgG>tgT	p.W138C	CLDN14_ENST00000399135.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399136.1_Missense_Mutation_p.W138C|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.W138C|CLDN14_ENST00000342108.2_Missense_Mutation_p.W138C	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	138					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.W138C(2)		endometrium(1)|lung(5)|skin(1)	7						CGTTGGTGGTCCAGGAGACGG	0.637000													10	37					1.61879e-10	1.9832e-10	0.411799	1	0
RABL3	285282	broad.mit.edu	37	3	120417341	120417341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:120417341T>A	ENST00000273375.3	-	5	492	c.463A>T	c.(463-465)Aca>Tca	p.T155S	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.T155S	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	155	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.T155S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGGCGCTTTGTTTCATGAATC	0.358000													158	511					0	0	0.870114	0	0
TGM7	116179	broad.mit.edu	37	15	43585794	43585794	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:43585794T>A	ENST00000452443.2	-	2	50	c.46A>T	c.(46-48)Agc>Tgc	p.S16C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	16					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S16C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCTGGAGCTCTGCAGGTCG	0.652000													3	12					0	0	0.115264	0	0
BCAS1	8537	broad.mit.edu	37	20	52612502	52612502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:52612502C>A	ENST00000395961.3	-	5	977	c.811G>T	c.(811-813)Gca>Tca	p.A271S	BCAS1_ENST00000371435.2_Missense_Mutation_p.A271S|BCAS1_ENST00000371440.3_Missense_Mutation_p.A271S|BCAS1_ENST00000434986.2_5'UTR	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	271						cytoplasm	protein binding	p.A271S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCGTCCTTTGCAGTCTCCAGT	0.473000													73	207					1.62783e-20	2.36002e-20	0.870114	1	0
ABCC9	10060	broad.mit.edu	37	12	22089557	22089557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:22089557C>G	ENST00000261200.4	-	1	51	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	ABCC9_ENST00000326684.4_Missense_Mutation_p.G18R|ABCC9_ENST00000538350.1_Missense_Mutation_p.G18R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G18R|ABCC9_ENST00000345162.2_Missense_Mutation_p.G18R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	18					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G18R(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTAGTACACCATCGTTGATA	0.338000													23	120					0	0	0.654019	0	0
MSC	9242	broad.mit.edu	37	8	72754932	72754932	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:72754932A>T	ENST00000325509.4	-	2	874	c.585T>A	c.(583-585)gtT>gtA	p.V195V	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	195					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V195V(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGGCTGCGGAAACTTCTTTGG	0.468000													256	518					0	0	0.870114	0	0
SCG2	7857	broad.mit.edu	37	2	224463262	224463262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:224463262C>A	ENST00000305409.2	-	2	971	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	247					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.G247*(2)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGTCTTCTCCCCCGACCACA	0.413000													168	543					3.92034e-43	6.79317e-43	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237729943	237729943	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237729943G>A	ENST00000366574.2	+	28	3608	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	RYR2_ENST00000360064.6_Silent_p.K1095K|RYR2_ENST00000542537.1_Silent_p.K1081K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1097	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K1095K(2)|p.K1095N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGTGAAGGCCGGACGGT	0.557000													81	282					0	0	0.870114	0	0
NFAT5	10725	broad.mit.edu	37	16	69660388	69660388	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:69660388C>T	ENST00000432919.1	+	3	1418	c.210C>T	c.(208-210)agC>agT	p.S70S	NFAT5_ENST00000393742.2_5'UTR|NFAT5_ENST00000566899.1_5'UTR|NFAT5_ENST00000567239.1_Silent_p.S70S|NFAT5_ENST00000354436.2_Silent_p.S52S|NFAT5_ENST00000349945.1_5'UTR	NM_001113178.2|NM_138713.3	NP_001106649.1|NP_619727.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	52	Ser-rich.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S70S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCAGACAAGCGGTGGTGAGG	0.448000													4	67					0	0	0.248553	0	0
TENM2	57451	broad.mit.edu	37	5	167525048	167525048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:167525048C>A	ENST00000519204.1	+	8	1484	c.1366C>A	c.(1366-1368)Cca>Aca	p.P456T	TENM2_ENST00000545108.1_Missense_Mutation_p.P577T|TENM2_ENST00000518659.1_Missense_Mutation_p.P577T|TENM2_ENST00000403607.2_Missense_Mutation_p.P410T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.P345T					teneurin transmembrane protein 2									p.P577T(2)|p.P410T(2)|p.P456T(2)									GCAGGACTGTCCACGTAACTG	0.453000													28	62					1.26612e-14	1.6722e-14	0.779181	1	0
OR8J1	219477	broad.mit.edu	37	11	56128272	56128272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:56128272C>A	ENST00000303039.3	+	1	582	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TAATGTTCCTCTGTTAGCATT	0.333000													53	158					2.93687e-30	4.71205e-30	0.870114	1	0
LILRB1	10859	broad.mit.edu	37	19	55146212	55146212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:55146212C>A	ENST00000396331.1	+	11	1838	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S544*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S478*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S478*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S495*|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S494*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	494					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S494*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACTGGACATCGAGTGAGTAG	0.577000										HNSCC(37;0.09)			74	178					5.82064e-54	1.0559e-53	0.870114	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784676	140784676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140784676G>T	ENST00000573521.1	+	1	2157	c.2157G>T	c.(2155-2157)tgG>tgT	p.W719C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGCACTGGCACTCCTCGC	0.587000													19	38					1.33834e-09	1.60689e-09	0.557998	1	0
OR4D6	219983	broad.mit.edu	37	11	59224639	59224639	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:59224639T>C	ENST00000300127.2	+	1	229	c.206T>C	c.(205-207)cTg>cCg	p.L69P		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69P(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AAATCAGTCCTGGACATCGTT	0.463000													38	163					0	0	0.819951	0	0
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000581580.1_Missense_Mutation_p.R101H|DCC_ENST00000412726.1_Missense_Mutation_p.R294H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517000													13	521					0	0	0.457914	0	0
SCN9A	6335	broad.mit.edu	37	2	167133545	167133545	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:167133545T>A	ENST00000375387.4	-	16	3165	c.2825A>T	c.(2824-2826)cAa>cTa	p.Q942L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q930L|SCN9A_ENST00000409435.1_Missense_Mutation_p.Q941L|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q942L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	941						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q930L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCACATAGCTTGACCAGCGAC	0.448000													118	830					0	0	0.870114	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750472	41750472	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:41750472C>A	ENST00000226382.2	-	1	515	c.156G>T	c.(154-156)ggG>ggT	p.G52G	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	52					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G52G(2)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CGGACGTGGCCCCAAAAGTGG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	46					0.00307968	0.00324761	0.278610	1	0
ZNF560	147741	broad.mit.edu	37	19	9578614	9578614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:9578614C>A	ENST00000301480.4	-	10	1222	c.1009G>T	c.(1009-1011)Gta>Tta	p.V337L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V337L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCAACATTTACAGCATGGCTT	0.388000													5	152					0.184627	0.186522	0.184627	1	0
C9orf131	138724	broad.mit.edu	37	9	35045842	35045842	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:35045842C>A	ENST00000312292.5	+	2	3263	c.3216C>A	c.(3214-3216)ccC>ccA	p.P1072P	C9orf131_ENST00000421362.2_Silent_p.P1024P|C9orf131_ENST00000354479.5_Silent_p.P999P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1072								p.P1072P(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCATCGACCCCTACCCACCA	0.517000													116	393					5.22802e-61	9.77883e-61	0.870114	1	0
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:35836516C>A	ENST00000085219.5	+	12	2286	c.2220C>A	c.(2218-2220)gcC>gcA	p.A740A	CD22_ENST00000341773.6_Silent_p.A563A|CD22_ENST00000419549.2_Silent_p.A568A|CD22_ENST00000270311.6_Intron|CD22_ENST00000594250.1_Silent_p.A563A|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_Intron|CD22_ENST00000536635.2_Silent_p.A652A	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	740					cell adhesion		protein binding|sugar binding	p.A740A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTAGAAGGGCCCCCCTCTCTG	0.582000													22	21					9.90768e-06	1.11307e-05	0.681144	1	0
USHBP1	83878	broad.mit.edu	37	19	17373540	17373540	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:17373540C>T	ENST00000252597.3	-	4	636	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	USHBP1_ENST00000431146.2_Missense_Mutation_p.G91R|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	155							PDZ domain binding	p.G155R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTGCTCCCCCTTCGCTTGTG	0.687000													25	10					0	0	0.740014	0	0
ACTG1	71	broad.mit.edu	37	17	79479156	79479156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:79479156C>A	ENST00000575842.1	-	2	562	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	ACTG1_ENST00000575087.1_Missense_Mutation_p.G46C|ACTG1_ENST00000573283.1_Missense_Mutation_p.G46C|ACTG1_ENST00000331925.2_Missense_Mutation_p.G46C			P63261	ACTG_HUMAN	actin, gamma 1	46					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G46C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGGCCCATGCCCACCATGACG	0.667000													5	14					0.0215528	0.0221458	0.217242	1	0
SYNPO2	171024	broad.mit.edu	37	4	119948371	119948371	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119948371C>T	ENST00000307142.4	+	3	1043	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R283W|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R283W	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	283						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R283W(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGACTGCCCCGGGTGGAAGT	0.557000													39	93					0	0	0.080422	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513291	70513291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:70513291C>A	ENST00000503640.1	-	1	127	c.72G>T	c.(70-72)ttG>ttT	p.L24F	UGT2A1_ENST00000286604.4_Missense_Mutation_p.L24F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.L24F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	24					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.L24F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCAAATCAAAACATTCC	0.398000													15	89					5.35267e-07	6.09062e-07	0.189662	1	0
FCRL4	83417	broad.mit.edu	37	1	157556176	157556176	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:157556176A>T	ENST00000271532.1	-	6	1052	c.917T>A	c.(916-918)cTg>cAg	p.L306Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	306	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.L306Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GACAAGGACCAGCATCTCCCC	0.602000													63	163					0	0	0.139131	0	0
NLRP2	55655	broad.mit.edu	37	19	55497607	55497607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:55497607G>T	ENST00000543010.1	+	8	2433	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	NLRP2_ENST00000263437.6_Missense_Mutation_p.G761C|NLRP2_ENST00000537859.1_Missense_Mutation_p.G742C|NLRP2_ENST00000448584.2_Missense_Mutation_p.G764C|NLRP2_ENST00000427260.2_Missense_Mutation_p.G741C|NLRP2_ENST00000538819.1_Missense_Mutation_p.G740C|NLRP2_ENST00000339757.7_Missense_Mutation_p.G742C|NLRP2_ENST00000391721.4_Missense_Mutation_p.G740C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	764					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.G764C(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCCTTCAAGGCAATGACCA	0.443000													40	82					1.62957e-23	2.58713e-23	0.104719	1	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328321	21328321	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21328321C>T	ENST00000444326.1	+	0	437																		p.P67S(1)									CGATGAAGTGCCTTTCTACAT	0.423000													12	472					0	0	0.105934	0	0
CSMD3	114788	broad.mit.edu	37	8	113348989	113348989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113348989G>T	ENST00000297405.5	-	44	7155	c.6911C>A	c.(6910-6912)cCa>cAa	p.P2304Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2234Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2264Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2200Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2304	CUB 13.					integral to membrane|plasma membrane		p.P2304Q(1)|p.P2264Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGTTTGGATATTCATC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	275					3.09899e-07	3.54632e-07	0.047766	1	0
ZMYM4	9202	broad.mit.edu	37	1	35847281	35847281	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:35847281G>T	ENST00000314607.6	+	9	1571	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	ZMYM4_ENST00000373297.2_Silent_p.S497S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	497					multicellular organismal development		DNA binding|zinc ion binding	p.S497S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTGGGTCGGGACAATGCC	0.433000													23	204					7.87624e-14	1.05104e-13	0.076483	1	0
C15orf52	388115	broad.mit.edu	37	15	40628796	40628796	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:40628796C>T	ENST00000397536.2	-	5	403	c.368G>A	c.(367-369)aGg>aAg	p.R123K	C15orf52_ENST00000559313.1_Missense_Mutation_p.R333K			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	333								p.R333K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCAGTCAGCCTCTCCTTGCC	0.632000													13	134					0	0	0.189662	0	0
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153691700C>A	ENST00000304337.2	-	2	1277	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.G153C(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACTGGTACACCTGTAGCTTCT	0.363000													35	118					3.90053e-15	5.35933e-15	0.163468	1	0
CYB561A3	220002	broad.mit.edu	37	11	61121427	61121427	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:61121427C>G	ENST00000426130.2	-	5	1052	c.273G>C	c.(271-273)ggG>ggC	p.G91G	CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000536915.1_Silent_p.G74G|CYB561A3_ENST00000447532.2_Silent_p.G74G|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000294072.4_Silent_p.G74G|CYB561A3_ENST00000544118.1_Intron	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3									p.G91G(2)|p.G74G(2)									GCAGTTTGGGCCCCACCCACG	0.607000													35	94					0	0	0.193644	0	0
EDIL3	10085	broad.mit.edu	37	5	83239283	83239283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:83239283C>G	ENST00000296591.5	-	11	1816	c.1398G>C	c.(1396-1398)agG>agC	p.R466S	EDIL3_ENST00000380138.3_Missense_Mutation_p.R456S	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	466	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.R466S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTGATCCTCCCGTACC	0.488000													42	128					0	0	0.124865	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22868122	22868122	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:22868122C>T	ENST00000251822.6	+	7	2229	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	RHOBTB2_ENST00000522948.1_Silent_p.T571T|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.T586T	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	564	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.T564T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCATGTTCACCTCCAGCCCCG	0.587000													45	204					0	0	0.131918	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377943	48377943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:48377943A>T	ENST00000222002.3	-	5	855	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	239					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.V239E(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTTGTCCACTACATAATCAAC	0.403000													52	124					0	0	0.139131	0	0
ADCY6	112	broad.mit.edu	37	12	49170251	49170251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:49170251C>A	ENST00000307885.4	-	6	2189	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.V499L|ADCY6_ENST00000357869.3_Missense_Mutation_p.V499L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	499					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.V499L(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAGGGTCACATCATTGGAC	0.647000													43	55					1.56793e-16	2.22015e-16	0.139131	1	0
WNK4	65266	broad.mit.edu	37	17	40940775	40940775	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40940775A>C	ENST00000246914.5	+	11	2138	c.2117A>C	c.(2116-2118)gAt>gCt	p.D706A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	706					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.D706A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGATTTGATCTGGATGGG	0.517000													8	136					0	0	0.038147	0	0
CFH	3075	broad.mit.edu	37	1	196654266	196654266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196654266A>C	ENST00000367429.4	+	7	1103	c.863A>C	c.(862-864)gAt>gCt	p.D288A	CFH_ENST00000359637.2_Missense_Mutation_p.D224A|CFH_ENST00000439155.2_Missense_Mutation_p.D288A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	288	Sushi 5.				complement activation, alternative pathway	extracellular space		p.D288A(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAACTGGAGATGAAATCACG	0.383000													8	362					0	0	0.047766	0	0
OR13C4	138804	broad.mit.edu	37	9	107288712	107288712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107288712G>T	ENST00000277216.3	-	1	778	c.779C>A	c.(778-780)gCa>gAa	p.A260E		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A260E(3)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTAGGTTTTGCATACATAAA	0.468000													14	161					4.36969e-10	5.34024e-10	0.105934	1	0
FAT3	120114	broad.mit.edu	37	11	92531039	92531039	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:92531039A>T	ENST00000298047.6	+	9	4877	c.4860A>T	c.(4858-4860)ctA>ctT	p.L1620L	FAT3_ENST00000409404.2_Silent_p.L1620L|FAT3_ENST00000525166.1_Silent_p.L1470L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1620	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L1620L(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCGGTCCTAGGCATCATCA	0.428000										TCGA Ovarian(4;0.039)			73	130					0	0	0.139131	0	0
ABCA10	10349	broad.mit.edu	37	17	67151277	67151277	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:67151277C>A	ENST00000269081.4	-	31	4486	c.3576_splice	c.e31-1	p.E1193_splice	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1193					transport	integral to membrane	ATP binding|ATPase activity	p.E1193*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGACTGGTTCCTGGAAAACA	0.323000													26	68					3.73148e-12	4.79875e-12	0.125774	1	0
BICD1	636	broad.mit.edu	37	12	32260458	32260458	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:32260458G>C	ENST00000548411.1	+	1	374	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000551086.1_Missense_Mutation_p.E65Q|BICD1_ENST00000281474.5_Missense_Mutation_p.E65Q|BICD1_ENST00000551848.1_Missense_Mutation_p.E65Q|BICD1_ENST00000550207.1_Missense_Mutation_p.E65Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	65					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.E65Q(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCTCAAACAGGAGCTGGAGCA	0.577000													5	9					0	0	0.047766	0	0
VPS37C	55048	broad.mit.edu	37	11	60899828	60899828	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:60899828G>A	ENST00000301765.5	-	5	764	c.532C>T	c.(532-534)Ccg>Tcg	p.P178S		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	178	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.P178S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGGCGCACCGGGGGTGGTGGA	0.682000													4	14					0	0	0.184627	0	0
ZBED4	9889	broad.mit.edu	37	22	50277734	50277734	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:50277734G>A	ENST00000216268.4	+	2	901	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	142						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.E142K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGAAGGAGTTCAGCAG	0.507000													35	71					0	0	0.163468	0	0
C2orf78	388960	broad.mit.edu	37	2	74043181	74043181	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:74043181C>A	ENST00000409561.1	+	3	1952	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	611	Lys-rich.							p.Q581K(2)|p.Q611K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAGAAAAATCAACCTGAGCT	0.438000													32	70					4.4194e-11	5.52425e-11	0.173368	1	0
ASXL3	80816	broad.mit.edu	37	18	31323228	31323228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:31323228C>A	ENST00000269197.5	+	12	3416	c.3416C>A	c.(3415-3417)cCt>cAt	p.P1139H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P846H(1)|p.P1139H(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGGAAGGGCCTCCAAACTTA	0.473000													10	49					0.0581538	0.0590356	0.058154	1	0
CD163	9332	broad.mit.edu	37	12	7636092	7636092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:7636092C>A	ENST00000359156.4	-	12	3161	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	CD163_ENST00000432237.2_Missense_Mutation_p.G987W|CD163_ENST00000396620.3_Missense_Mutation_p.G1020W|CD163_ENST00000541972.1_Missense_Mutation_p.G975W|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGTCCAGTCCCCTGACCAAAC	0.517000													28	116					4.22769e-11	5.2956e-11	0.116897	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714185	70714185	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70714185G>T	ENST00000530196.1	-	0	333					NR_003951.1																						CCAAACCGCAGACTATAGGAG	0.522000													8	110					0.000566183	0.000600573	0.160694	1	0
DNAH9	1770	broad.mit.edu	37	17	11726350	11726350	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:11726350A>T	ENST00000262442.3	+	48	9313	c.9246_splice	c.e48+1	p.Q3082_splice	DNAH9_ENST00000454412.2_Splice_Site_p.Q3082_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3082	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q3082L(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTCTGCCCAGGTGAGCAAT	0.542000													9	15					0	0	0.047766	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:17071902C>G	ENST00000359963.3	-	1	1798	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	513					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.Q513H(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTCACGAGCTGTAGCACCA	0.498000													104	163					0	0	0.139131	0	0
FCRLA	84824	broad.mit.edu	37	1	161680653	161680653	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:161680653G>A	ENST00000540926.1	+	3	494	c.201G>A	c.(199-201)caG>caA	p.Q67Q	FCRLA_ENST00000349527.4_Silent_p.Q61Q|FCRLA_ENST00000309691.6_Silent_p.Q61Q|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Silent_p.Q78Q|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Silent_p.Q78Q|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Silent_p.Q78Q|FCRLA_ENST00000367950.1_Silent_p.Q38Q|FCRLA_ENST00000367953.3_Silent_p.Q67Q|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367959.2_Silent_p.Q84Q			Q7L513	FCRLA_HUMAN	Fc receptor-like A	61					cell differentiation	cytoplasm|extracellular region		p.Q84Q(2)|p.Q61Q(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTTCCAGGTCAAGGCCT	0.562000													47	142					0	0	0.139131	0	0
TRANK1	9881	broad.mit.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:36872739C>T	ENST00000429976.2	-	21	8450	c.8203G>A	c.(8203-8205)Ggc>Agc	p.G2735S	TRANK1_ENST00000301807.6_Missense_Mutation_p.G2185S|TRANK1_ENST00000428977.2_Missense_Mutation_p.G2185S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2735					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.G2185S(2)|p.G2178S(2)|p.G2735S(2)|p.G2735C(1)|p.G2185C(1)|p.G2178C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCTGGGCCACGGGTAAAC	0.592000													24	55					0	0	0.083992	0	0
KIAA1377	57562	broad.mit.edu	37	11	101786030	101786030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:101786030G>T	ENST00000263468.8	+	1	285	c.15G>T	c.(13-15)agG>agT	p.R5S	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	5							protein binding	p.R5S(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGGCGGGGAGGCCCGGAACCC	0.701000													52	70					6.3237e-29	1.07628e-28	0.139131	1	0
CDH6	1004	broad.mit.edu	37	5	31297485	31297485	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:31297485C>G	ENST00000265071.2	+	4	878	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q150E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q205E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTACAGGGACAGCCCTATTT	0.373000													14	235					0	0	0.105934	0	0
ATP1B4	23439	broad.mit.edu	37	X	119512560	119512560	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:119512560A>G	ENST00000218008.3	+	7	901	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	ATP1B4_ENST00000361319.3_Missense_Mutation_p.I278V|ATP1B4_ENST00000539306.1_Missense_Mutation_p.I239V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	282					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.I278V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CATCCGATCCATCAGTTACTA	0.478000													110	147					0	0	0.139131	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432382	107432382	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:107432382A>G	ENST00000340010.5	-	4	459	c.275T>C	c.(274-276)tTa>tCa	p.L92S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L57S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAAATGCTAAACCTGTAAA	0.423000													8	126					0	0	0.047766	0	0
RLTPR	146206	broad.mit.edu	37	16	67680809	67680809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:67680809G>T	ENST00000334583.6	+	8	872	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	RLTPR_ENST00000545661.1_Missense_Mutation_p.D182Y	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	182										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCAGGACGTGGACACCATTTA	0.627000													4	37					0.150653	0.151787	0.150653	1	0
CSMD1	64478	broad.mit.edu	37	8	2966218	2966218	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:2966218C>A	ENST00000602557.1	-	45	7219	c.6664G>T	c.(6664-6666)Gcc>Tcc	p.A2222S	CSMD1_ENST00000537824.1_Missense_Mutation_p.A2221S|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2222S|CSMD1_ENST00000602723.1_Missense_Mutation_p.A2222S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2221S|CSMD1_ENST00000520002.1_Missense_Mutation_p.A2222S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2222	CUB 13.					integral to membrane		p.A2221S(1)|p.A1950S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTTCGAGGGCTGTGTTGCCA	0.507000													8	38					0.00448238	0.00465627	0.047766	1	0
TBX5	6910	broad.mit.edu	37	12	114804114	114804114	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:114804114C>T	ENST00000310346.4	-	8	1504	c.838G>A	c.(838-840)Gct>Act	p.A280T	TBX5_ENST00000405440.2_Missense_Mutation_p.A280T|TBX5_ENST00000349716.5_Missense_Mutation_p.A230T|TBX5_ENST00000526441.1_Missense_Mutation_p.A280T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	280					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A280T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGGAGAGAGCTCGAGACTCG	0.552000													15	207					0	0	0.146539	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686206	36686206	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:36686206C>A	ENST00000265113.4	+	10	1940	c.1464C>A	c.(1462-1464)tcC>tcA	p.S488S	SLC1A3_ENST00000381918.3_Silent_p.S443S|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	488					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.S488S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGAGACTCCCTGGGAGCTG	0.517000													18	249					8.00594e-06	8.89139e-06	0.189662	1	0
MMP10	4319	broad.mit.edu	37	11	102643716	102643716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:102643716C>A	ENST00000279441.4	-	8	1124	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	363	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R363I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCATTTCCTCTGATGGCCCA	0.368000													16	255					1.3612e-06	1.53725e-06	0.132662	1	0
NLGN1	22871	broad.mit.edu	37	3	173996827	173996827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:173996827G>T	ENST00000457714.1	+	6	1465	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	NLGN1_ENST00000401917.3_Missense_Mutation_p.D386Y|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.D346Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.D346Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	363					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGTTGACCAAGATATTCAACC	0.428000													6	274					0.00116845	0.00122539	0.021553	1	0
OR6K3	391114	broad.mit.edu	37	1	158687393	158687393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158687393G>T	ENST00000368146.1	-	1	560	c.561C>A	c.(559-561)ccC>ccA	p.P187P	OR6K3_ENST00000368145.1_Silent_p.P171P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P187P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGATTTGGTTGGGCCCACAGA	0.512000													68	175					1.33661e-31	2.34101e-31	0.139131	1	0
FBLIM1	54751	broad.mit.edu	37	1	16096939	16096939	+	Nonsense_Mutation	SNP	C	C	T	rs140794901		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:16096939C>T	ENST00000375766.3	+	6	1217	c.577C>T	c.(577-579)Cga>Tga	p.R193*	FBLIM1_ENST00000400773.1_Nonsense_Mutation_p.R96*|FBLIM1_ENST00000332305.5_Nonsense_Mutation_p.R96*|FBLIM1_ENST00000375771.1_Nonsense_Mutation_p.R193*|FBLIM1_ENST00000441801.2_Nonsense_Mutation_p.R193*	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	193	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.R193*(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CGTGTCCCCCCGAGAGCTGGC	0.642000													11	133					0	0	0.093190	0	0
CIT	11113	broad.mit.edu	37	12	120263085	120263085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:120263085C>A	ENST00000392521.2	-	8	896	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	CIT_ENST00000261833.7_Missense_Mutation_p.G281C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	281	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.G281C(4)|p.G282C(2)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGTCCAGGCCGTAGGTGCCT	0.527000													80	125					3.30373e-36	6.01359e-36	0.139131	1	0
NEB	4703	broad.mit.edu	37	2	152512820	152512820	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:152512820G>A	ENST00000427231.2	-	49	6544	c.6342C>T	c.(6340-6342)caC>caT	p.H2114H	NEB_ENST00000409198.1_Silent_p.H2114H|NEB_ENST00000603639.1_Silent_p.H2114H|NEB_ENST00000172853.10_Silent_p.H2114H|NEB_ENST00000397345.3_Silent_p.H2114H|NEB_ENST00000604864.1_Silent_p.H2114H	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2114					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.H2114H(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGGCAGGGGTGTGGTAGCTGG	0.478000													61	172					0	0	0.139131	0	0
HDAC2	3066	broad.mit.edu	37	6	114270215	114270215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:114270215C>T	ENST00000519065.1	-	8	1145	c.769G>A	c.(769-771)Gct>Act	p.A257T	HDAC2_ENST00000519108.1_Missense_Mutation_p.A227T|HDAC2_ENST00000398283.2_Missense_Mutation_p.A351T|HDAC2_ENST00000368632.2_Missense_Mutation_p.A227T			Q92769	HDAC2_HUMAN	histone deacetylase 2	257	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.A257T(2)|p.A351T(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	AATACCACAGCACTAGGTTGA	0.378000													43	122					0	0	0.139131	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157231	12157231	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:12157231G>T	ENST00000263932.2	+	3	447	c.225G>T	c.(223-225)ctG>ctT	p.L75L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	75					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.L75L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACTACCTGGATGAGGCCG	0.577000													26	109					7.92952e-12	1.01434e-11	0.091800	1	0
C15orf60	283677	broad.mit.edu	37	15	73852136	73852136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:73852136C>A	ENST00000331090.6	+	6	708	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.S199Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	227								p.S227Y(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATGAACAATCTGCATGGGGT	0.463000													43	107					6.5261e-18	9.50901e-18	0.104719	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125850370	125850370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:125850370C>A	ENST00000393434.2	-	13	1829	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D393Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D504Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D494Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	494	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.D494Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCATGAGATCTGCCAACCTG	0.647000													38	75					1.96642e-18	2.89674e-18	0.092188	1	0
EPYC	1833	broad.mit.edu	37	12	91358003	91358003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:91358003G>T	ENST00000261172.3	-	7	991	c.899C>A	c.(898-900)cCt>cAt	p.P300H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	300					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.P300H(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GAGATTAATAGGGTTTCCATC	0.393000													71	92					1.55545e-33	2.80166e-33	0.139131	1	0
STARD7	56910	broad.mit.edu	37	2	96858109	96858109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:96858109C>G	ENST00000337288.5	-	6	1224	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	281	START.					mitochondrion		p.E281Q(2)|p.E206Q(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AAACTCACCTCATCAAATGAC	0.493000													64	166					0	0	0.139131	0	0
BDP1	55814	broad.mit.edu	37	5	70797393	70797393	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:70797393A>T	ENST00000380675.2	+	0	2224				BDP1_ENST00000358731.4_Missense_Mutation_p.H654L			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.H654L(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCACAGAACCACGTGGAAAAA	0.343000													24	110					0	0	0.099896	0	0
OR2G3	81469	broad.mit.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247769640C>A	ENST00000320002.2	+	1	785	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F251L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGATTATATTCTATGGCACCA	0.488000													25	97					1.85244e-09	2.24341e-09	0.083992	1	0
PDE6C	5146	broad.mit.edu	37	10	95425130	95425130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:95425130A>T	ENST00000371447.3	+	22	2670	c.2532A>T	c.(2530-2532)tcA>tcT	p.S844S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	844					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S844S(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTGAAGATTCAGGAGGTGGTG	0.318000													37	146					0	0	0.131918	0	0
TGFBR3	7049	broad.mit.edu	37	1	92174229	92174229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:92174229C>A	ENST00000212355.4	-	14	2743	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E760*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E759*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	760					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E760*(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTTTAGATTCTGCTTCATGG	0.493000													68	177					1.49552e-23	2.37745e-23	0.139131	1	0
NDRG2	57447	broad.mit.edu	37	14	21486634	21486634	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:21486634G>T	ENST00000556147.1	-	13	1783	c.843C>A	c.(841-843)acC>acA	p.T281T	NDRG2_ENST00000397855.3_Silent_p.T238T|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397851.2_Silent_p.T281T|NDRG2_ENST00000555158.1_Silent_p.T267T|NDRG2_ENST00000554143.1_Silent_p.T267T|NDRG2_ENST00000350792.3_Silent_p.T267T|NDRG2_ENST00000298684.5_Silent_p.T238T|NDRG2_ENST00000553503.1_Silent_p.T267T|NDRG2_ENST00000397847.2_Silent_p.T270T|NDRG2_ENST00000554104.1_Silent_p.T194T|NDRG2_ENST00000360463.3_Silent_p.T267T|NDRG2_ENST00000397858.1_Silent_p.T281T|NDRG2_ENST00000397853.3_Silent_p.T281T|NDRG2_ENST00000298687.5_Silent_p.T281T|NDRG2_ENST00000403829.3_Silent_p.T277T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	281					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		p.T281T(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACGAGGTCTGGGTGGGGTCCA	0.582000													12	42					3.27435e-08	3.83813e-08	0.119110	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168457	142168457	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142168457G>T	ENST00000454561.2	-	0	466																											GCTATCATTAGGGAACTGGAG	0.542000													27	232					2.80507e-11	3.53568e-11	0.163468	1	0
ELF2	1998	broad.mit.edu	37	4	139980627	139980627	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:139980627G>C	ENST00000394235.2	-	10	1758	c.1256C>G	c.(1255-1257)cCa>cGa	p.P419R	ELF2_ENST00000379549.2_Missense_Mutation_p.P342R|ELF2_ENST00000265495.4_Missense_Mutation_p.P419R|ELF2_ENST00000510408.1_Missense_Mutation_p.P359R|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Missense_Mutation_p.P431R|ELF2_ENST00000358635.3_Missense_Mutation_p.P371R	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	431					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P419R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GACTACCTTTGGAGAGGTCGC	0.438000													8	185					0	0	0.038147	0	0
PROM2	150696	broad.mit.edu	37	2	95945675	95945675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:95945675G>T	ENST00000317620.9	+	11	1490	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	PROM2_ENST00000403131.2_Missense_Mutation_p.G453C|PROM2_ENST00000542147.1_Missense_Mutation_p.G453C|PROM2_ENST00000317668.4_Missense_Mutation_p.G453C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	453						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G453C(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGCATCTGGGGCCTGTCTGC	0.642000													24	110					1.1804e-14	1.60178e-14	0.091800	1	0
KDM3A	55818	broad.mit.edu	37	2	86678331	86678331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:86678331A>G	ENST00000409556.1	+	5	813	c.448A>G	c.(448-450)Ata>Gta	p.I150V	KDM3A_ENST00000409064.1_Missense_Mutation_p.I150V|KDM3A_ENST00000312912.5_Missense_Mutation_p.I150V|KDM3A_ENST00000542128.1_Missense_Mutation_p.I98V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	150					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.I150V(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTTGAAGCCTATACAGGTAAA	0.363000													12	70					0	0	0.080935	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:54219926C>A	ENST00000384818.1	+	0	79					NR_030203.1																						AGAGTGTTACCGTGTGAGAAA	0.428000													63	101					4.45325e-31	7.77706e-31	0.139131	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044273	90044273	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:90044273C>A	ENST00000462693.1	+	0	224																											CAGCAGAGGCCAGGCCAGCCT	0.537000													28	262					1.06801e-11	1.36186e-11	0.144211	1	0
TGM7	116179	broad.mit.edu	37	15	43585794	43585794	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:43585794T>A	ENST00000452443.2	-	2	50	c.46A>T	c.(46-48)Agc>Tgc	p.S16C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	16					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S16C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCTGGAGCTCTGCAGGTCG	0.652000													25	86					0	0	0.091800	0	0
HP1BP3	50809	broad.mit.edu	37	1	21074085	21074085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:21074085C>A	ENST00000375003.2	-	7	2249	c.749G>T	c.(748-750)gGg>gTg	p.G250V	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402V			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GAACCCTTTCCCAGAGATCTG	0.373000													11	120					0.00185496	0.00193862	0.105934	1	0
TAS1R1	80835	broad.mit.edu	37	1	6639557	6639557	+	Nonsense_Mutation	SNP	C	C	A	rs145637880	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:6639557C>A	ENST00000333172.6	+	6	2632	c.2439C>A	c.(2437-2439)taC>taA	p.Y813*	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Y559*	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	813					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.Y813*(2)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTAAGTGCTACGTGATCCTCT	0.617000													28	126					4.7796e-09	5.70805e-09	0.099896	1	0
MYH1	4619	broad.mit.edu	37	17	10399714	10399714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:10399714G>T	ENST00000226207.5	-	34	4903	c.4809C>A	c.(4807-4809)agC>agA	p.S1603R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1603						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1603R(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCCAGTGTGCTCTGCATGG	0.448000													126	258					7.75303e-77	1.53406e-76	0.139131	1	0
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98802742C>T	ENST00000266058.4	-	20	2325	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G694R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	694	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.G694R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612000													16	60					0	0	0.160694	0	0
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547000													18	63					3.51602e-12	4.5265e-12	0.204396	1	0
MIR381HG	378881	broad.mit.edu	37	14	101515025	101515025	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:101515025G>T	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							ttgttaaaaagcagattctga	0.413000													25	61					2.21704e-12	2.85725e-12	0.076483	1	0
RASSF1	11186	broad.mit.edu	37	3	50368057	50368057	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:50368057G>A	ENST00000359365.4	-	6	1084	c.978C>T	c.(976-978)tgC>tgT	p.C326C	RASSF1_ENST00000395126.3_Silent_p.C175C|RASSF1_ENST00000327761.3_Silent_p.C256C|RASSF1_ENST00000357043.2_Silent_p.C330C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	330	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	p.C256C(2)|p.C330C(2)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTTCTGGCGGCAATAGGAGT	0.612000													50	144					0	0	0.139131	0	0
PRDM5	11107	broad.mit.edu	37	4	121631535	121631535	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:121631535C>T	ENST00000264808.3	-	15	1897	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	PRDM5_ENST00000515109.1_Missense_Mutation_p.G493D|PRDM5_ENST00000428209.2_Missense_Mutation_p.A522T|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	553					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.A553T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGAAGGCCTTGCTGCAC	0.483000													37	104					0	0	0.086207	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574545	11574545	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:11574545G>A	ENST00000294484.6	+	4	1553	c.1415G>A	c.(1414-1416)tGc>tAc	p.C472Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C472Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	472	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.C689Y(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCAGCAGCTGCATTGCTGCC	0.582000													19	204					0	0	0.055883	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897071	29897071	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:29897071C>T	ENST00000308713.5	-	8	1736		c.e8-1		SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.?(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCATCAGCCTGGGATGGAC	0.557000													19	78					0	0	0.175082	0	0
RYR1	6261	broad.mit.edu	37	19	38986924	38986924	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:38986924G>A	ENST00000355481.4	+	40	6749	c.6618G>A	c.(6616-6618)acG>acA	p.T2206T	RYR1_ENST00000360985.3_Silent_p.T2206T|RYR1_ENST00000359596.3_Silent_p.T2206T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2206	6 X approximate repeats.		T -> M (in MHS1; induces an increase sensitivity to caffeine; dbSNP:rs28934000).|T -> R (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCACGAGACGGTCATGGAGG	0.632000													4	127					0	0	0.021553	0	0
STARD13	90627	broad.mit.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000399365.3_Missense_Mutation_p.R162L|STARD13_ENST00000255486.4_Missense_Mutation_p.R272L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542000													15	156					2.61681e-11	3.30531e-11	0.119110	1	0
MYO1D	4642	broad.mit.edu	37	17	31105502	31105502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:31105502C>A	ENST00000318217.5	-	3	698	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	MYO1D_ENST00000394649.4_Nonsense_Mutation_p.E44*|MYO1D_ENST00000583621.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.E132*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	132	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.E132*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTTACCTTTCAACCTCTGCT	0.478000													35	119					5.04308e-16	7.06617e-16	0.086207	1	0
BEND2	139105	broad.mit.edu	37	X	18209221	18209221	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:18209221G>T	ENST00000380033.4	-	8	1320	c.1188C>A	c.(1186-1188)ggC>ggA	p.G396G	BEND2_ENST00000380030.3_Silent_p.G305G	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	396								p.G396G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCATTTGTGGGCCAGATTCTG	0.378000													60	86					1.13205e-32	2.02091e-32	0.139131	1	0
COL5A1	1289	broad.mit.edu	37	9	137658860	137658860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137658860G>T	ENST00000371817.3	+	23	2562	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	716	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E716D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGGAGAGCCTGGCCCCC	0.652000													12	28					1.15088e-07	1.32963e-07	0.146539	1	0
MEPE	56955	broad.mit.edu	37	4	88767161	88767161	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:88767161G>C	ENST00000497649.2	+	6	1447	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	MEPE_ENST00000540395.1_Missense_Mutation_p.E268Q|MEPE_ENST00000361056.3_Missense_Mutation_p.E381Q|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.E381Q|MEPE_ENST00000395102.4_Missense_Mutation_p.E412Q|MEPE_ENST00000560249.1_Missense_Mutation_p.E268Q			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	381					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.E381Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACCCTCAAAAGAGAAAAGAAA	0.443000													21	89					0	0	0.204396	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	105					0	0	0.029380	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506336	178506336	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:178506336A>T	ENST00000315475.6	+	5	1209	c.903A>T	c.(901-903)cgA>cgT	p.R301R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301R(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCGTATCGATGTAGGGAAT	0.418000													33	225					0	0	0.163468	0	0
FHL5	9457	broad.mit.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97063550G>T	ENST00000326771.2	+	7	1137	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	FHL5_ENST00000541107.1_Missense_Mutation_p.G253W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	253	LIM zinc-binding 4.					nucleus	zinc ion binding	p.G253W(2)|p.G253R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTTTAACTGCGGGAAATGCTC	0.458000													25	52					2.4375e-19	3.65322e-19	0.125774	1	0
CAMK2A	815	broad.mit.edu	37	5	149644579	149644579	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:149644579C>A	ENST00000348628.6	-	3	823		c.e3-1		CAMK2A_ENST00000398376.3_Splice_Site	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha						interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTGATGGTCTGAAACACAG	0.602000													15	73					2.32078e-09	2.79934e-09	0.132662	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407714	105407714	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105407714C>T	ENST00000333244.5	-	7	14193	c.14074G>A	c.(14074-14076)Gaa>Aaa	p.E4692K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4692						nucleus		p.E4692K(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTCCAACTTCTCCAACAGCA	0.413000													14	99					0	0	0.119110	0	0
FAM210A	125228	broad.mit.edu	37	18	13671873	13671873	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:13671873A>G	ENST00000322247.3	-	4	960	c.573T>C	c.(571-573)taT>taC	p.Y191Y	FAM210A_ENST00000588475.1_Intron|FAM210A_ENST00000402563.1_Silent_p.Y191Y	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	191	DUF1279.					integral to membrane											TAAACAAGGCATATGCTGTGA	0.463000													4	94					0	0	0.021553	0	0
ZNF680	340252	broad.mit.edu	37	7	63982636	63982636	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:63982636A>G	ENST00000309683.6	-	4	647	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F166L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAATTTGAAAATTTATGAAAG	0.299000													5	76					0	0	0.184627	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139922	3139922	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:3139922G>A	ENST00000252463.2	-	5	1435	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R111W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R368W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	450					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R450W(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TCGGAGGACCGGCGGTCCTTG	0.716000													2	1					0	0	0.115264	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175884	40175884	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40175884C>T	ENST00000307641.5	+	4	1170	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NKIRAS2_ENST00000393880.1_Silent_p.N183N|NKIRAS2_ENST00000393885.4_Silent_p.N183N|NKIRAS2_ENST00000393881.3_Silent_p.N183N|NKIRAS2_ENST00000393884.2_Silent_p.N181N|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000449471.4_Silent_p.N127N|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000316082.4_Silent_p.N221N	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	183	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	p.N183N(2)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCCGGAAGAACAAGGGCAGCG	0.607000													34	63					0	0	0.183431	0	0
NUGGC	389643	broad.mit.edu	37	8	27888782	27888782	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:27888782T>C	ENST00000413272.2	-	15	2028	c.1886A>G	c.(1885-1887)aAa>aGa	p.K629R	NUGGC_ENST00000341513.6_Missense_Mutation_p.K629R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.K629R(4)									GAAATTTTTTTTGCAGCTATC	0.453000													33	162					0	0	0.080422	0	0
SCN1A	6323	broad.mit.edu	37	2	166896013	166896013	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:166896013C>A	ENST00000423058.2	-	14	2526	c.2509G>T	c.(2509-2511)Ggt>Tgt	p.G837C	SCN1A_ENST00000375405.3_Missense_Mutation_p.G826C|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G809C|SCN1A_ENST00000303395.4_Missense_Mutation_p.G837C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	837						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G837C(2)|p.G826C(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAATAAAACCGTCAAAGATA	0.363000													34	59					1.61788e-16	2.28552e-16	0.163468	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791250	50791250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:50791250C>A	ENST00000263046.4	+	3	405	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P71Q			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	71	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P71Q(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCCTACTTCCCACCCCCCTAC	0.682000													13	60					0.00185496	0.00193862	0.105934	1	0
PTPRD	5789	broad.mit.edu	37	9	8460541	8460541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:8460541G>T	ENST00000381196.4	-	30	4288	c.3745C>A	c.(3745-3747)Ccc>Acc	p.P1249T	PTPRD_ENST00000486161.1_Missense_Mutation_p.P838T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P828T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1227T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P835T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P835T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P838T|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1249T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1236T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1249T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P828T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1249T(4)|p.P720T(2)|p.P838T(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACACCACGGGGTCGGAGTAA	0.433000										TSP Lung(15;0.13)			12	127					1.5842e-08	1.87521e-08	0.105934	1	0
SOX14	8403	broad.mit.edu	37	3	137483858	137483858	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:137483858C>A	ENST00000306087.1	+	1	280	c.232C>A	c.(232-234)Cga>Aga	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.R78R(2)		large_intestine(2)|lung(12)	14						CTACAAGTACCGACCTCGGCG	0.612000													22	112					1.22574e-08	1.45375e-08	0.069288	1	0
LELP1	149018	broad.mit.edu	37	1	153177368	153177368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:153177368C>A	ENST00000368747.1	+	2	295	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	62	Cys/Pro-rich.							p.P62H(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTGCCCCTCGCAGTCT	0.592000													21	150					9.04072e-19	1.33669e-18	0.183431	1	0
GJB1	2705	broad.mit.edu	37	X	70443680	70443680	+	Missense_Mutation	SNP	G	G	T	rs116840816		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:70443680G>T	ENST00000374022.3	+	2	218	c.123G>T	c.(121-123)gaG>gaT	p.E41D	GJB1_ENST00000361726.6_Missense_Mutation_p.E41D|GJB1_ENST00000374029.1_Missense_Mutation_p.E41D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	41			E -> K (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	p.E41D(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTGCAGAGAGTGTGTGGG	0.532000													33	40					3.11337e-16	4.38273e-16	0.173368	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160273941	160273941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:160273941G>T	ENST00000264431.4	+	21	3906	c.3487G>T	c.(3487-3489)Gtg>Ttg	p.V1163L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1163	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.V1151L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTTGACTCAGTGCCAGTCTC	0.478000													39	146					3.78316e-11	4.74371e-11	0.086207	1	0
PRDM16	63976	broad.mit.edu	37	1	3328631	3328631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:3328631G>T	ENST00000378398.3	+	10	1955	c.1873G>T	c.(1873-1875)Gac>Tac	p.D625Y	PRDM16_ENST00000511072.1_Missense_Mutation_p.D625Y|PRDM16_ENST00000442529.2_Missense_Mutation_p.D624Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.D624Y|PRDM16_ENST00000378391.2_Missense_Mutation_p.D624Y|PRDM16_ENST00000270722.5_Missense_Mutation_p.D624Y|PRDM16_ENST00000514189.1_Missense_Mutation_p.D625Y|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	624					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D624Y(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAG	0.677000			T	EVI1	"""MDS, AML"""								15	159					1.37285e-15	1.90586e-15	0.146539	1	0
USH2A	7399	broad.mit.edu	37	1	216051129	216051129	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216051129C>T	ENST00000366943.2	-	43	9038	c.8652G>A	c.(8650-8652)caG>caA	p.Q2884Q	USH2A_ENST00000307340.3_Silent_p.Q2884Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2884	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q2884Q(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATAAAGCCACTGAGTTCCTG	0.383000										HNSCC(13;0.011)			171	352					0	0	0.139131	0	0
MEP1A	4224	broad.mit.edu	37	6	46806811	46806811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:46806811G>T	ENST00000230588.4	+	14	2188	c.2179G>T	c.(2179-2181)Gct>Tct	p.A727S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	727					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A727S(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGAGGCACGGCTGGCGTGAT	0.602000													68	252					1.20466e-24	1.94587e-24	0.139131	1	0
BBS9	27241	broad.mit.edu	37	7	33545221	33545221	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:33545221G>A	ENST00000242067.6	+	20	2783	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	BBS9_ENST00000396127.2_Silent_p.A719A|BBS9_ENST00000355070.2_Silent_p.A749A|BBS9_ENST00000354265.4_Silent_p.A719A|BBS9_ENST00000350941.3_Silent_p.A714A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	754					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.A754A(4)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGGAAGCGGCATTTCTGC	0.498000									Bardet-Biedl syndrome				12	131					0	0	0.080935	0	0
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248059311C>G	ENST00000537741.1	+	3	680	c.423C>G	c.(421-423)tgC>tgG	p.C141W	OR2W3_ENST00000360358.3_Missense_Mutation_p.C141W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141W(2)|p.C141*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGCTCTGCCGGGGCTTGG	0.627000													33	129					0	0	0.183431	0	0
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:25835674G>T	ENST00000280701.3	+	3	1168	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	OXSM_ENST00000420173.2_Missense_Mutation_p.A274S	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453000													37	98					4.31865e-32	7.63045e-32	0.214465	1	0
FAM135B	51059	broad.mit.edu	37	8	139209901	139209901	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:139209901G>A	ENST00000395297.1	-	8	851	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	227								p.Y227Y(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGAGGTGATGTAGAAGCTTC	0.582000										HNSCC(54;0.14)			32	141					0	0	0.173368	0	0
OR6C6	283365	broad.mit.edu	37	12	55688351	55688351	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55688351G>T	ENST00000358433.2	-	1	665	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T222T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTTCAGAATGGTCTTAATAA	0.398000													5	168					3.59834e-05	3.93466e-05	0.021553	1	0
SMOC1	64093	broad.mit.edu	37	14	70490078	70490078	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70490078G>T	ENST00000381280.4	+	11	1458	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	SMOC1_ENST00000361956.3_Missense_Mutation_p.R402L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	402	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R402L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAATGTGCCCGGCGTTTCACC	0.527000													41	313					7.53189e-24	1.2037e-23	0.098360	1	0
VSTM2A	222008	broad.mit.edu	37	7	54612473	54612473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:54612473G>T	ENST00000302287.3	+	2	644	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	VSTM2A_ENST00000404951.1_Missense_Mutation_p.G80C|VSTM2A_ENST00000407838.3_Missense_Mutation_p.G80C|VSTM2A_ENST00000402026.2_Missense_Mutation_p.G79C|VSTM2A_ENST00000402613.3_Missense_Mutation_p.G80C			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	80	Ig-like V-type.					extracellular region		p.G80C(1)|p.G79C(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CGAGGGGGCCGGCGCGCAGGT	0.751000													9	18					3.86212e-05	4.21545e-05	0.069234	1	0
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:71114727G>C	ENST00000304954.3	+	4	186	c.100G>C	c.(100-102)Gat>Cat	p.D34H		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	34						extracellular region	protein binding	p.D34H(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATGAGAATGATGAAAGACC	0.308000													28	132					0	0	0.108266	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816575	80816575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:80816575G>T	ENST00000466387.1	+	19	2878	c.2154G>T	c.(2152-2154)atG>atT	p.M718I	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M397I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M718I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M752I|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M718I|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M718I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	718					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.M718I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAAGCAGATGTGTATGATCA	0.458000													23	112					1.36565e-18	2.0142e-18	0.076483	1	0
RGS22	26166	broad.mit.edu	37	8	101051202	101051202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:101051202T>C	ENST00000360863.6	-	14	2317	c.2123A>G	c.(2122-2124)tAc>tGc	p.Y708C	RGS22_ENST00000523437.1_Missense_Mutation_p.Y696C|RGS22_ENST00000523287.1_Missense_Mutation_p.Y527C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	708					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.Y708C(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTTTCTTGGTAGAAAAGCTG	0.358000													25	128					0	0	0.091800	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444315	5444315	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:5444315T>A	ENST00000300778.4	+	1	975	c.885T>A	c.(883-885)agT>agA	p.S295R	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S295R(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTTACAGTGTAAAGAACA	0.428000													14	102					0	0	0.119110	0	0
LONRF3	79836	broad.mit.edu	37	X	118147138	118147138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:118147138G>T	ENST00000365713.2	+	8	1988	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	LONRF3_ENST00000304778.7_Missense_Mutation_p.D609Y|LONRF3_ENST00000422289.2_Missense_Mutation_p.D394Y|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.D650Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	650	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D609Y(2)|p.D650Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAACACAGCCGACATTGAATA	0.488000													26	28					2.79863e-10	3.44118e-10	0.099896	1	0
FOXD4L1	200350	broad.mit.edu	37	2	114257955	114257955	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:114257955A>T	ENST00000306507.5	+	1	1295	c.1122A>T	c.(1120-1122)ggA>ggT	p.G374G		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	374					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G374G(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATCAGGAGGAGGACTGCGCC	0.687000													14	121					0	0	0.204396	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974501	129974501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:129974501G>T	ENST00000259351.5	+	15	1606	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	RALGPS1_ENST00000424082.2_Missense_Mutation_p.G405W|RALGPS1_ENST00000373434.1_Missense_Mutation_p.G405W	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	447	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G447W(2)|p.G405W(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAAGGAAGGGCGGAAGCC	0.592000													10	77					0.00829132	0.0085613	0.069234	1	0
NDST3	9348	broad.mit.edu	37	4	119158234	119158234	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119158234C>A	ENST00000296499.5	+	10	2380	c.1977C>A	c.(1975-1977)gtC>gtA	p.V659V	NDST3_ENST00000433996.2_3'UTR	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	659	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.V659V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATCTAATGTCACTACCGACT	0.393000													25	81					9.57634e-11	1.18964e-10	0.083992	1	0
IL25	64806	broad.mit.edu	37	14	23842476	23842476	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:23842476A>G	ENST00000329715.2	+	1	407	c.149A>G	c.(148-150)gAg>gGg	p.E50G	IL25_ENST00000397242.2_Missense_Mutation_p.E34G	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	50					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	p.E50G(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACCTCTGAGGAGCTGCTGAGG	0.612000													15	112					0	0	0.132662	0	0
COBL	23242	broad.mit.edu	37	7	51111277	51111277	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:51111277C>A	ENST00000395542.2	-	10	1639	c.1455G>T	c.(1453-1455)acG>acT	p.T485T	COBL_ENST00000265136.7_Silent_p.T403T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	403								p.T403T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGTCCTCGGTCGTGTCCTCCG	0.607000													55	118					4.65455e-14	6.26674e-14	0.139131	1	0
ERN2	10595	broad.mit.edu	37	16	23713521	23713521	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23713521T>C	ENST00000256797.4	-	11	1467	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	ERN2_ENST00000457008.2_Silent_p.A385A	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	385					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.A433A(2)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTCTTGTCTCTGCAGTTCCAC	0.622000													82	231					0	0	0.139131	0	0
GPR63	81491	broad.mit.edu	37	6	97247592	97247592	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97247592C>A	ENST00000229955.3	-	2	361	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	GPR63_ENST00000417980.1_Missense_Mutation_p.V6L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	6						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V6L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCAGTCAACACTGCCGAGAAG	0.463000													30	96					8.16721e-17	1.16192e-16	0.153744	1	0
NID1	4811	broad.mit.edu	37	1	236195859	236195859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:236195859G>T	ENST00000264187.6	-	6	1461	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NID1_ENST00000366595.3_Missense_Mutation_p.S460Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	460	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S460Y(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TACTACGTAAGAGTGGAGGTC	0.552000													36	107					6.05902e-23	9.56896e-23	0.193644	1	0
MAN2C1	4123	broad.mit.edu	37	15	75650895	75650895	+	Missense_Mutation	SNP	C	C	T	rs150018240		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:75650895C>T	ENST00000565683.1	-	20	2373	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	MAN2C1_ENST00000563622.1_Missense_Mutation_p.A672T|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A771T|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A771T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	771					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.A771T(2)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGAACCAGGCGCTGCCCCGC	0.647000													22	95					0	0	0.083992	0	0
CAMK4	814	broad.mit.edu	37	5	110730473	110730473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110730473C>A	ENST00000282356.4	+	5	850	c.452C>A	c.(451-453)gCa>gAa	p.A151E	CAMK4_ENST00000512453.1_Missense_Mutation_p.A151E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	151	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A151E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCCTGGAGGCAGTTGCTGTA	0.408000													22	98					3.10358e-05	3.40292e-05	0.069288	1	0
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:88057031C>A	ENST00000504921.2	-	4	1045	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	MEF2C_ENST00000514028.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000437473.2_Missense_Mutation_p.D125Y|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.D125Y			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453000										HNSCC(66;0.2)			46	177					2.65591e-33	4.76956e-33	0.139131	1	0
PTPRF	5792	broad.mit.edu	37	1	44084819	44084819	+	Missense_Mutation	SNP	G	G	A	rs70937045		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:44084819G>A	ENST00000359947.4	+	27	4932	c.4592G>A	c.(4591-4593)cGa>cAa	p.R1531Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R890Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1531Q|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1531	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R1521Q(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTCCTACGACGGGTCAAG	0.627000													13	61					0	0	0.093190	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814424	106814424	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:106814424A>G	ENST00000407775.2	+	8	2364	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H573R|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H436R|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	705					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.H705R(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACATGGTCCACAAACAGTAT	0.517000													35	68					0	0	0.086207	0	0
USP8	9101	broad.mit.edu	37	15	50741619	50741619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:50741619G>T	ENST00000433963.1	+	5	772	c.272G>T	c.(271-273)gGa>gTa	p.G91V	USP8_ENST00000425032.3_Intron|USP8_ENST00000396444.3_Missense_Mutation_p.G91V|USP8_ENST00000307179.4_Missense_Mutation_p.G91V	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	91	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G91V(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCAATACTTGGACCTGGAAAC	0.303000													13	36					9.16793e-09	1.08948e-08	0.160694	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774234	140774234	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140774234G>C	ENST00000398604.2	+	1	1854	c.1854G>C	c.(1852-1854)tcG>tcC	p.S618S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1												p.S618S(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.682000													12	64					0	0	0.189662	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945446	48945446	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:48945446T>A	ENST00000263269.3	+	12	2568	c.2480T>A	c.(2479-2481)aTc>aAc	p.I827N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	827						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.I827N(2)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTCTCTGGGATCTGCCACAAT	0.567000													54	125					0	0	0.139131	0	0
OTOF	9381	broad.mit.edu	37	2	26696880	26696880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:26696880C>A	ENST00000272371.2	-	27	3513	c.3387G>T	c.(3385-3387)gtG>gtT	p.V1129V	OTOF_ENST00000402415.3_Silent_p.V439V|OTOF_ENST00000339598.3_Silent_p.V382V|OTOF_ENST00000403946.3_Silent_p.V1129V|OTOF_ENST00000338581.6_Silent_p.V382V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1129					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.V439V(2)|p.V1129V(2)|p.V382V(2)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGCTGAGCACGGGCCGGA	0.642000													38	108					1.07637e-12	1.40219e-12	0.214465	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854254	178854254	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:178854254G>C	ENST00000367635.3	+	12	1286	c.948G>C	c.(946-948)gtG>gtC	p.V316V	RALGPS2_ENST00000324778.4_Silent_p.V281V|RALGPS2_ENST00000367634.2_Silent_p.V316V|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	316					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAAAAGTGTGGCAGCTGAAG	0.448000													37	79					0	0	0.203993	0	0
ESR2	2100	broad.mit.edu	37	14	64699947	64699947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:64699947G>A	ENST00000341099.4	-	9	1918	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ESR2_ENST00000555278.1_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.R410C|ESR2_ENST00000555483.1_5'UTR	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	501	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R501C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTGCACCCGCGAAGCACGTGG	0.562000													6	190					0	0	0.021553	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136969	108136969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:108136969G>T	ENST00000374720.3	+	13	1832	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	SLC44A1_ENST00000374723.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V321L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	529						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.V529L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTTTGCGAGTGGCTACCAT	0.393000													53	173					9.53978e-28	1.60775e-27	0.139131	1	0
GABRB1	2560	broad.mit.edu	37	4	47427876	47427876	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:47427876G>T	ENST00000295454.3	+	9	1558	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	GABRB1_ENST00000538619.1_Silent_p.G352G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	422					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G422G(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCGGCACGGGGTACCCAGCA	0.627000													41	127					2.58029e-29	4.41654e-29	0.111260	1	0
POLQ	10721	broad.mit.edu	37	3	121209249	121209249	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:121209249C>A	ENST00000264233.5	-	16	2657	c.2529G>T	c.(2527-2529)cgG>cgT	p.R843R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	843					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R978R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCACTGCCTTCCGGGCACTAC	0.443000								DNA polymerases (catalytic subunits)					54	151					9.72345e-25	1.57483e-24	0.139131	1	0
CSMD1	64478	broad.mit.edu	37	8	2967787	2967787	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:2967787C>A	ENST00000602557.1	-	44	7059	c.6504G>T	c.(6502-6504)ccG>ccT	p.P2168P	CSMD1_ENST00000537824.1_Silent_p.P2167P|CSMD1_ENST00000400186.3_Silent_p.P2168P|CSMD1_ENST00000602723.1_Silent_p.P2168P|CSMD1_ENST00000542608.1_Silent_p.P2167P|CSMD1_ENST00000520002.1_Silent_p.P2168P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2168	CUB 13.					integral to membrane		p.P2167P(2)|p.P1896P(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCAGGATCGGATACTCAT	0.502000													6	29					0.0215528	0.0219908	0.021553	1	0
C22orf42	150297	broad.mit.edu	37	22	32550243	32550243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:32550243G>T	ENST00000382097.3	-	2	367	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	99								p.L99I(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATATTTTCTAGAGGCCAAATC	0.378000													53	125					1.77791e-30	3.09147e-30	0.139131	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951975	119951975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119951975G>T	ENST00000307142.4	+	4	2241	c.2045G>T	c.(2044-2046)gGa>gTa	p.G682V	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G682V|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G682V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	682						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.G682V(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAAGAACAGGAATATTGCAG	0.498000													14	97					1.52009e-12	1.9717e-12	0.132662	1	0
CNGB3	54714	broad.mit.edu	37	8	87645122	87645122	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:87645122C>A	ENST00000320005.5	-	11	1226		c.e11-1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCAGATACCTGTGAAAACA	0.303000													35	81					6.29468e-14	8.41853e-14	0.214465	1	0
GRM8	2918	broad.mit.edu	37	7	126173694	126173694	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173694G>T	ENST00000339582.2	-	9	2550	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S581Y|GRM8_ENST00000444921.2_Missense_Mutation_p.S581Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	581					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S581Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCCAGGGAGAATGCCACTC	0.512000										HNSCC(24;0.065)			5	107					3.59834e-05	3.93466e-05	0.021553	1	0
CDH12	1010	broad.mit.edu	37	5	21765146	21765146	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:21765146G>A	ENST00000382254.1	-	12	2542	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.P446S|CDH12_ENST00000504376.2_Missense_Mutation_p.P486S|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	486	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P486S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTCTGGAGGAAATTCATTT	0.338000										HNSCC(59;0.17)			14	244					0	0	0.132662	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337510	22337510	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22337510C>A	ENST00000390436.2	+	0	324																											AGAGACCCAACCTGAAGACTC	0.493000													39	100					5.71845e-15	7.83038e-15	0.080422	1	0
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:37026967G>C	ENST00000358047.3	+	1	536	c.484G>C	c.(484-486)Gca>Cca	p.A162P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTGGAGGACGCAGGCTCTTG	0.582000													17	41					0	0	0.146539	0	0
OR2B11	127623	broad.mit.edu	37	1	247614463	247614463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247614463C>A	ENST00000318749.6	-	1	845	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q274H(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAAATTTGCCCTGCTCTTGGG	0.493000													94	370					5.88579e-26	9.64949e-26	0.139131	1	0
GPR132	29933	broad.mit.edu	37	14	105518393	105518393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105518393G>T	ENST00000329797.3	-	4	992	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GPR132_ENST00000539291.2_Silent_p.G27G|GPR132_ENST00000392585.2_Silent_p.G18G|GPR132_ENST00000546679.1_5'UTR	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	27					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G27G(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGGCGGAGAGGCCCAGGGAGG	0.637000													52	128					3.07002e-29	5.24733e-29	0.139131	1	0
KIAA1468	57614	broad.mit.edu	37	18	59942667	59942667	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:59942667T>A	ENST00000256858.6	+	23	3278	c.3030T>A	c.(3028-3030)acT>acA	p.T1010T	KIAA1468_ENST00000398130.2_Silent_p.T976T			Q9P260	K1468_HUMAN	KIAA1468	976							binding	p.T976T(2)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGTCCATACTTCAGCACTCG	0.363000													25	93					0	0	0.134883	0	0
DLL3	10683	broad.mit.edu	37	19	39989617	39989617	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:39989617G>T	ENST00000205143.4	+	1	10	c.3G>T	c.(1-3)atG>atT	p.M1I	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Start_Codon_SNP_p.M1I	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	1					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.M1I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAAGGCCATGGTCTCCCCAC	0.642000													65	148					2.10938e-32	3.74897e-32	0.139131	1	0
KRT5	3852	broad.mit.edu	37	12	52910579	52910579	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:52910579A>G	ENST00000252242.4	-	7	1671	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	427	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.D427D(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCCTGGCATCCTTGAGGG	0.617000													102	107					0	0	0.139131	0	0
JMY	133746	broad.mit.edu	37	5	78610543	78610543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:78610543G>T	ENST00000396137.4	+	9	2990	c.2528G>T	c.(2527-2529)aGa>aTa	p.R843I	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	843					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.R489I(2)|p.R843I(2)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GATCTGCCTAGAAAGGAGGGG	0.592000													28	80					1.88708e-17	2.72328e-17	0.134883	1	0
RYR2	6262	broad.mit.edu	37	1	237798280	237798280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237798280G>A	ENST00000366574.2	+	44	7097	c.6780G>A	c.(6778-6780)ccG>ccA	p.P2260P	RYR2_ENST00000542537.1_Silent_p.P2244P|RYR2_ENST00000360064.6_Silent_p.P2258P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2260	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P2258P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGTGAGCCGGATCTAGAAA	0.423000													3	25					0	0	0.115264	0	0
ATP2B3	492	broad.mit.edu	37	X	152814180	152814180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:152814180G>A	ENST00000370186.1	+	8	1490	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*	ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.W402*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	402					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.W402*(6)|p.W388*(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGACATGGCTGGCAGAGT	0.562000													12	80					0	0	0.105934	0	0
USP54	159195	broad.mit.edu	37	10	75290091	75290091	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:75290091C>T	ENST00000339859.4	-	13	1738	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	USP54_ENST00000319786.7_Silent_p.R546R|USP54_ENST00000408019.1_Silent_p.R546R|USP54_ENST00000428547.1_Silent_p.R396R|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	546					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R546R(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGGCAGGGTCCTAGGAGGTT	0.507000													20	122					0	0	0.055883	0	0
SAMHD1	25939	broad.mit.edu	37	20	35540928	35540928	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:35540928G>A	ENST00000262878.4	-	10	1289	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.H149Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	364					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.H364Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGCGAGTGTGGAACATGTCA	0.328000													28	66					0	0	0.144211	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301896	139301896	+	Silent	SNP	G	G	A	rs3841201		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:139301896G>A	ENST00000298537.7	-	4	662	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	SDCCAG3_ENST00000357365.3_Silent_p.L174L|SDCCAG3_ENST00000371725.3_Silent_p.L101L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	174						cytoplasm		p.L174L(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCTCATCCAGGAGGTCACCA	0.647000													9	32					0	0	0.047766	0	0
APOB	338	broad.mit.edu	37	2	21239499	21239499	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:21239499G>T	ENST00000233242.1	-	21	3271	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1048					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1048T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAATGTCATGGTAGCCTCAG	0.468000													15	92					8.28177e-16	1.1537e-15	0.189662	1	0
GANAB	23193	broad.mit.edu	37	11	62398602	62398602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62398602C>A	ENST00000346178.4	-	11	1131	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	GANAB_ENST00000356638.3_Missense_Mutation_p.Q350H|GANAB_ENST00000540933.1_Missense_Mutation_p.Q253H|GANAB_ENST00000534779.1_Missense_Mutation_p.Q258H	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	350					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.Q350H(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAACATCTGTCTGTGGGGTCT	0.547000													194	619					3.33532e-74	6.57784e-74	0.139131	1	0
AFF1	4299	broad.mit.edu	37	4	88035722	88035722	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:88035722G>T	ENST00000307808.6	+	11	2136	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R	AFF1_ENST00000544085.1_Silent_p.R210R|AFF1_ENST00000395146.4_Silent_p.R579R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	572						nucleus	sequence-specific DNA binding transcription factor activity	p.R579R(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGCCCCCCGGGCCCCACCCG	0.617000													7	20					0.0293803	0.0299014	0.029380	1	0
FCRLA	84824	broad.mit.edu	37	1	161680698	161680698	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:161680698C>A	ENST00000540926.1	+	3	539	c.246C>A	c.(244-246)tcC>tcA	p.S82S	FCRLA_ENST00000349527.4_Silent_p.S76S|FCRLA_ENST00000309691.6_Silent_p.S76S|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Silent_p.S93S|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Silent_p.S93S|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Silent_p.S93S|FCRLA_ENST00000367950.1_Silent_p.S53S|FCRLA_ENST00000367953.3_Silent_p.S82S|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367959.2_Silent_p.S99S			Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGATTGTGTCCTATGGTGAGG	0.552000													35	174					1.07637e-12	1.40219e-12	0.214465	1	0
OR6C1	390321	broad.mit.edu	37	12	55714510	55714510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55714510C>A	ENST00000379668.2	+	1	165	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43I(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAACCTGACCCTTATCACAAT	0.423000													70	83					1.46168e-27	2.45652e-27	0.139131	1	0
RPGR	6103	broad.mit.edu	37	X	38146246	38146246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:38146246C>A	ENST00000378505.2	-	15	2182	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	658	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.W669L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cTCATCTTGCCAGTGTTCTGC	0.532000													95	117					2.68325e-40	4.98969e-40	0.139131	1	0
BLOC1S4	55330	broad.mit.edu	37	4	6718442	6718442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:6718442C>T	ENST00000320776.3	+	1	601	c.506C>T	c.(505-507)gCg>gTg	p.A169V		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino									p.A169V(2)									TTCCCCAGGGCGTTCAAGAAG	0.657000													10	60					0	0	0.069234	0	0
MUC16	94025	broad.mit.edu	37	19	9047921	9047921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:9047921G>T	ENST00000397910.4	-	5	33913	c.33710C>A	c.(33709-33711)tCa>tAa	p.S11237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11239	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6870*(2)|p.S11237*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGACCCATGAGTCTATGGT	0.483000													13	25					4.3838e-07	4.99289e-07	0.105934	1	0
MYO16	23026	broad.mit.edu	37	13	109793613	109793613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:109793613C>A	ENST00000356711.2	+	32	5113	c.4987C>A	c.(4987-4989)Ccc>Acc	p.P1663T	MYO16_ENST00000357550.2_Missense_Mutation_p.P1663T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1663	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.P1663T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTACAGCCCTCCCAGCTCCAG	0.667000													5	17					0.014758	0.0151091	0.184627	1	0
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:154490316G>T	ENST00000369454.3	-	2	714	c.414C>A	c.(412-414)gcC>gcA	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488000													61	57					3.37043e-27	5.59417e-27	0.139131	1	0
ERI3	79033	broad.mit.edu	37	1	44820666	44820666	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:44820666C>T	ENST00000372257.2	-	1	214	c.33G>A	c.(31-33)ggG>ggA	p.G11G	ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	11						intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.G11G(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCGCCCCCGCCCCCCGTCAG	0.751000													6	11					0	0	0.038147	0	0
PAQR9	344838	broad.mit.edu	37	3	142681802	142681802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:142681802G>T	ENST00000340634.3	-	1	376	c.377C>A	c.(376-378)gCg>gAg	p.A126E	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	126						integral to membrane	receptor activity	p.A126E(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACTCCCGACGCGTAGCACCA	0.652000													12	34					2.32078e-09	2.79934e-09	0.132662	1	0
ASB15	142685	broad.mit.edu	37	7	123257664	123257664	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:123257664C>A	ENST00000451558.1	+	9	845	c.324C>A	c.(322-324)acC>acA	p.T108T	ASB15_ENST00000540573.1_Silent_p.T108T|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Silent_p.T108T|ASB15_ENST00000275699.3_Silent_p.T108T|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Silent_p.T108T|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATTCAAGACCTGTGATGGAG	0.388000													64	153					1.08321e-29	1.862e-29	0.139131	1	0
RICTOR	253260	broad.mit.edu	37	5	39021164	39021164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:39021164C>A	ENST00000357387.3	-	3	202	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G58C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	58					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G58C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCAGATGGCCTAGCTTTCTC	0.328000													50	280					4.17463e-26	6.85344e-26	0.139131	1	0
HCN1	348980	broad.mit.edu	37	5	45262703	45262703	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:45262703G>A	ENST00000303230.4	-	8	2050	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	665						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TACACCGGTGGAGATTGTGTC	0.577000													5	155					0	0	0.184627	0	0
ZNF292	23036	broad.mit.edu	37	6	87966098	87966098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:87966098G>T	ENST00000369577.3	+	8	2794	c.2751G>T	c.(2749-2751)ttG>ttT	p.L917F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L912F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L917F(2)|p.L772F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACCATTGTCAAATGGTT	0.443000													43	92					1.02687e-29	1.76768e-29	0.131918	1	0
VCAN	1462	broad.mit.edu	37	5	82837202	82837202	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:82837202G>C	ENST00000265077.3	+	8	8945	c.8380G>C	c.(8380-8382)Gag>Cag	p.E2794Q	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1807Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2794	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2794Q(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTGTAACAGAGGTGCCTGA	0.433000													24	296					0	0	0.091800	0	0
GARNL3	84253	broad.mit.edu	37	9	130101923	130101923	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130101923G>A	ENST00000373387.4	+	13	1380		c.e13-1		GARNL3_ENST00000314904.5_Splice_Site|GARNL3_ENST00000435213.2_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCTCTACTTAGGCTGAAAATA	0.438000													20	156					0	0	0.189662	0	0
SRGAP2	23380	broad.mit.edu	37	1	206611329	206611329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:206611329C>T	ENST00000414007.1	+	12	1229	c.1229C>T	c.(1228-1230)gCt>gTt	p.A410V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	550					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.A410V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GACCCCCTGGCTGGGGACCAG	0.542000													31	228					0	0	0.193644	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486483	76486483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:76486483C>A	ENST00000307431.8	+	9	1532	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTAGCACTGCCAGACTTCTC	0.428000													38	148					2.40579e-17	3.45528e-17	0.086207	1	0
GTPBP3	84705	broad.mit.edu	37	19	17448878	17448878	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:17448878C>G	ENST00000324894.8	+	2	183	c.115C>G	c.(115-117)Cta>Gta	p.L39V	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.L39V|GTPBP3_ENST00000600625.1_Missense_Mutation_p.L39V|GTPBP3_ENST00000361619.5_Missense_Mutation_p.L61V	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	39					tRNA modification	mitochondrion	GTP binding|GTPase activity	p.L39V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CATCTTCGCGCTAAGCTCTGG	0.716000													9	50					0	0	0.058154	0	0
HEATR5A	25938	broad.mit.edu	37	14	31778370	31778370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:31778370G>T	ENST00000543095.2	-	29	4644	c.4460C>A	c.(4459-4461)gCa>gAa	p.A1487E	HEATR5A_ENST00000439727.1_Missense_Mutation_p.A1194E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A1481E|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A1481E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1481							binding	p.A1481E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTAGTCTCTGCTGTGTAGAA	0.368000													59	142					4.88506e-25	7.93328e-25	0.139131	1	0
CAMTA1	23261	broad.mit.edu	37	1	7700548	7700548	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:7700548A>G	ENST00000303635.7	+	7	806	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N200S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.N200S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCTCCATCAACACCGACAAG	0.627000			T	WWTR1	epitheliod hemangioendothelioma								6	168					0	0	0.029380	0	0
FBN2	2201	broad.mit.edu	37	5	127648343	127648343	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:127648343C>T	ENST00000508053.1	-	43	5836	c.4862G>A	c.(4861-4863)tGc>tAc	p.C1621Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C1621Y			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.C1621Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGGGGGGCATGTCTCACA	0.512000													14	691					0	0	0.132662	0	0
FSIP2	401024	broad.mit.edu	37	2	186672293	186672293	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:186672293C>A	ENST00000343098.5	+	17	18527	c.18527C>A	c.(18526-18528)tCt>tAt	p.S6176Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6087Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.S785Y(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGGTTCAGTCTGTTTATAAT	0.333000													51	132					1.86633e-21	2.87955e-21	0.139131	1	0
CCDC136	64753	broad.mit.edu	37	7	128450286	128450286	+	Missense_Mutation	SNP	C	C	A	rs116868322	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128450286C>A	ENST00000297788.4	+	12	2261	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	632						integral to membrane	protein binding	p.Q632K(4)|p.Q748K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACAGAACCAAGACTGTGT	0.468000													16	28					3.45872e-05	3.78887e-05	0.146539	1	0
ACSL1	2180	broad.mit.edu	37	4	185697670	185697670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:185697670C>A	ENST00000515030.1	-	7	1049	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ACSL1_ENST00000454703.2_Missense_Mutation_p.G71W|ACSL1_ENST00000437665.3_Missense_Mutation_p.G71W|ACSL1_ENST00000507295.1_Missense_Mutation_p.G208W|ACSL1_ENST00000281455.2_Missense_Mutation_p.G242W|ACSL1_ENST00000513317.1_Missense_Mutation_p.G242W|ACSL1_ENST00000504342.1_Missense_Mutation_p.G242W|ACSL1_ENST00000504900.1_Missense_Mutation_p.G242W			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	242					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G242W(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTTCCACCCCACACCTCTGG	0.522000													37	179					4.62619e-21	7.11041e-21	0.203993	1	0
CHD5	26038	broad.mit.edu	37	1	6173020	6173020	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:6173020G>A	ENST00000262450.3	-	34	5050	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	CHD5_ENST00000378021.1_Silent_p.L508L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1651					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L1651L(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCAGCTCCAGCTTGTCCAGG	0.577000													18	167					0	0	0.189662	0	0
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:86838537C>A	ENST00000441037.2	+	16	2229	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R	AGBL1_ENST00000421325.2_Silent_p.R712R|AGBL1_ENST00000389298.3_Silent_p.R443R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468000													36	85					6.50621e-10	7.92718e-10	0.173368	1	0
CSMD3	114788	broad.mit.edu	37	8	113988292	113988292	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113988292G>T	ENST00000297405.5	-	7	1360	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S372R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S332R|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	372						integral to membrane|plasma membrane		p.S372R(2)|p.S332R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCAGGTGTGCTAGCAACAG	0.483000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	175					5.77227e-19	8.56599e-19	0.134883	1	0
TRIB2	28951	broad.mit.edu	37	2	12880889	12880889	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:12880889T>A	ENST00000155926.4	+	3	2420	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198K	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACGTCAACATGGAAGAGAAC	0.512000													15	75					0	0	0.146539	0	0
YIPF7	285525	broad.mit.edu	37	4	44626769	44626769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:44626769C>A	ENST00000332990.5	-	5	545	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	177						endoplasmic reticulum membrane|integral to membrane		p.G177C(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCACTCATGCCATACACATAA	0.478000													3	25					0.014758	0.0151091	0.184627	1	0
AGL	178	broad.mit.edu	37	1	100336081	100336081	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:100336081G>T	ENST00000294724.4	+	6	1268	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	AGL_ENST00000361522.4_Missense_Mutation_p.G247W|AGL_ENST00000370165.3_Missense_Mutation_p.G264W|AGL_ENST00000361915.3_Missense_Mutation_p.G264W|AGL_ENST00000370163.3_Missense_Mutation_p.G264W|AGL_ENST00000361302.3_Missense_Mutation_p.G248W|AGL_ENST00000370161.2_Missense_Mutation_p.G248W	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	264					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.G264W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTGCAGAAGGGAAATACAA	0.383000													24	94					9.86323e-18	1.43195e-17	0.091800	1	0
G2E3	55632	broad.mit.edu	37	14	31077153	31077153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:31077153G>T	ENST00000206595.6	+	12	1532	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	G2E3_ENST00000553504.1_Missense_Mutation_p.G490C|G2E3_ENST00000438909.2_Missense_Mutation_p.G414C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	460	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.G460C(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTAGTTCACGGTGGTCCTTC	0.348000													18	113					9.7654e-05	0.000105631	0.189662	1	0
PHACTR3	116154	broad.mit.edu	37	20	58348406	58348406	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:58348406C>T	ENST00000371015.1	+	6	1291	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PHACTR3_ENST00000395639.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P234L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P272L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P234L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P234L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P164L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	275						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P275L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCTCCACACCCACGGGGTCT	0.662000													20	181					0	0	0.204396	0	0
KAT6B	23522	broad.mit.edu	37	10	76736089	76736089	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:76736089G>T	ENST00000287239.4	+	8	2482		c.e8+1		KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B						histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.?(2)									CAGGATGATGGTAAGCAAAAG	0.473000													21	97					4.96729e-08	5.79437e-08	0.204396	1	0
ZAN	7455	broad.mit.edu	37	7	100348394	100348394	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100348394G>A	ENST00000542585.1	+	0	1544				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TACTATGCTCGAACTCCTCCT	0.622000													4	48					0	0	0.150653	0	0
STIM1	6786	broad.mit.edu	37	11	4104157	4104157	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4104157C>T	ENST00000300737.4	+	9	1752	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y	STIM1_ENST00000527651.1_Missense_Mutation_p.H395Y|STIM1_ENST00000533977.1_Missense_Mutation_p.H222Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	395					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.H395Y(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGCACCTTCCACGTGGCCCA	0.433000													37	89					0	0	0.092188	0	0
SYNE1	23345	broad.mit.edu	37	6	152763330	152763330	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:152763330G>T	ENST00000367255.5	-	31	4489	c.3888C>A	c.(3886-3888)atC>atA	p.I1296I	SYNE1_ENST00000448038.1_Silent_p.I1303I|SYNE1_ENST00000367253.4_Silent_p.I1296I|SYNE1_ENST00000341594.5_Silent_p.I1362I|SYNE1_ENST00000265368.4_Silent_p.I1296I|SYNE1_ENST00000423061.1_Silent_p.I1303I|SYNE1_ENST00000413186.2_Silent_p.I1296I|SYNE1_ENST00000367248.3_Silent_p.I1286I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I1296I(4)|p.I1303I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCTGCGCGATCTGCTGCT	0.557000										HNSCC(10;0.0054)			51	97					4.1673e-28	7.05281e-28	0.139131	1	0
GSTZ1	2954	broad.mit.edu	37	14	77791214	77791214	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:77791214C>T	ENST00000216465.5	+	2	302	c.15_splice	c.e2-1	p.P6_splice	GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000349555.3_Splice_Site_p.P6_splice|GSTZ1_ENST00000553586.1_Splice_Site_p.P7_splice|GSTZ1_ENST00000556627.1_Splice_Site_p.P6_splice|GSTZ1_ENST00000557639.1_Intron|GSTZ1_ENST00000554279.1_Splice_Site_p.P6_splice|GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000557053.1_Intron	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	6	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TCTCCTCAGCCCATCCTCTAT	0.562000													8	123					0	0	0.058154	0	0
JRK	8629	broad.mit.edu	37	8	143746065	143746065	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:143746065C>G	ENST00000507178.2	-	0	1745									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tcctggtcagcttttggagtc	0.667000													4	8					0	0	0.021553	0	0
CNOT1	23019	broad.mit.edu	37	16	58616700	58616700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:58616700T>A	ENST00000317147.5	-	10	1373	c.1041A>T	c.(1039-1041)gaA>gaT	p.E347D	CNOT1_ENST00000569240.1_Missense_Mutation_p.E347D|CNOT1_ENST00000441024.2_Missense_Mutation_p.E347D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	347					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E347D(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTCACCAGTTCTTTAAGAA	0.383000													30	131					0	0	0.173368	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605956	13605956	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:13605956A>G	ENST00000040738.5	-	10	2703	c.2568T>C	c.(2566-2568)ggT>ggC	p.G856G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	856	Lys-rich.						DNA binding	p.G856G(2)									GTTGCTTGGAACCCAGAGAAT	0.368000													10	82					0	0	0.058154	0	0
LIPK	643414	broad.mit.edu	37	10	90499787	90499787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:90499787C>T	ENST00000404190.1	+	7	851	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	284					lipid catabolic process	extracellular region	hydrolase activity	p.A284V(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACAATCCTGCGGGAACATCT	0.423000													58	76					0	0	0.139131	0	0
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:78959150G>C	ENST00000370756.3	+	2	959	c.722G>C	c.(721-723)aGa>aCa	p.R241T	PTGFR_ENST00000370757.3_Missense_Mutation_p.R241T|PTGFR_ENST00000370758.1_Missense_Mutation_p.R241T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	241					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R241T(4)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423000													39	114					0	0	0.214465	0	0
MLYCD	23417	broad.mit.edu	37	16	83933047	83933047	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:83933047G>T	ENST00000262430.4	+	1	317	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C		NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	100					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	p.G100C(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CGTGGACCACGGCCAGGTGGC	0.746000													5	10					1.23904e-05	1.36726e-05	0.184627	1	0
OR2C3	81472	broad.mit.edu	37	1	247695356	247695356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247695356C>A	ENST00000366487.3	-	2	819	c.458G>T	c.(457-459)gGt>gTt	p.G153V	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTGGTCAGACCCCCCAGCCA	0.562000													18	52					0.00498961	0.0051698	0.160694	1	0
FREM1	158326	broad.mit.edu	37	9	14784421	14784421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:14784421C>A	ENST00000380881.4	-	25	5207	c.4392G>T	c.(4390-4392)caG>caT	p.Q1464H	FREM1_ENST00000380880.3_Missense_Mutation_p.Q1463H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q1463H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1463					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q1464H(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAAACTGTCTGCCCCACTA	0.458000													42	86					2.47872e-24	3.98248e-24	0.117977	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478264	14478264	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:14478264G>T	ENST00000581457.1	-	0	1644					NR_024076.1																						AGGTGGGAGAGTTGGACTCTG	0.488000													14	52					4.36969e-10	5.34024e-10	0.105934	1	0
NLRP14	338323	broad.mit.edu	37	11	7092508	7092508	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:7092508A>T	ENST00000299481.4	+	12	3597	c.3251A>T	c.(3250-3252)gAa>gTa	p.E1084V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1084					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E1084V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCATAATGAAGAAGATGTG	0.363000													7	122					0	0	0.038147	0	0
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:21631013C>T	ENST00000328843.6	+	14	2516	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R829C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R829C(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAGTTGAGCGCACACAGAA	0.607000									Kartagener syndrome				14	93					0	0	0.119110	0	0
CCNO	10309	broad.mit.edu	37	5	54527229	54527229	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:54527229A>G	ENST00000282572.4	-	3	1183	c.1027T>C	c.(1027-1029)Tgc>Cgc	p.C343R		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	343					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	p.C343R(1)		endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GGCAGGCTGCACTTCTCGCAG	0.567000													28	95					0	0	0.134883	0	0
ITIH2	3698	broad.mit.edu	37	10	7773794	7773794	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:7773794C>A	ENST00000358415.4	+	13	1648	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	ITIH2_ENST00000379587.4_Silent_p.S483S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	494					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S494S(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCAGGTCTCCACTCCATTGC	0.373000													16	173					1.96292e-10	2.41853e-10	0.055883	1	0
LTB4R	1241	broad.mit.edu	37	14	24785583	24785583	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:24785583G>A	ENST00000396789.4	+	2	2451	c.726G>A	c.(724-726)ctG>ctA	p.L242L	LTB4R_ENST00000396782.2_Silent_p.L242L|LTB4R_ENST00000345363.3_Silent_p.L242L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	242					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	p.L242L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGGTGAACCTGGCTGAGGCGG	0.736000													8	23					0	0	0.047766	0	0
MUSK	4593	broad.mit.edu	37	9	113563158	113563158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:113563158C>A	ENST00000416899.2	+	13	2602	c.2476C>A	c.(2476-2478)Ctc>Atc	p.L826I	MUSK_ENST00000374448.4_Missense_Mutation_p.L834I|MUSK_ENST00000189978.5_Missense_Mutation_p.L834I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	834	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L834I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTGTACAATCTCATGCGTCT	0.542000													21	61					7.4402e-23	1.17195e-22	0.091800	1	0
CREB3L2	64764	broad.mit.edu	37	7	137600584	137600584	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:137600584C>A	ENST00000330387.6	-	3	845	c.495_splice	c.e3+1	p.G165_splice	CREB3L2_ENST00000456390.1_Splice_Site_p.G165_splice|CREB3L2_ENST00000452463.1_Splice_Site_p.G165_splice|CREB3L2_ENST00000458726.1_Splice_Site_p.G102_splice	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	165					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G165V(2)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGCATACCCCAGTGTTCAT	0.458000			T	FUS	fibromyxoid sarcoma								27	82					3.73988e-18	5.48243e-18	0.116897	1	0
NUF2	83540	broad.mit.edu	37	1	163298635	163298635	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:163298635G>T	ENST00000271452.3	+	5	554		c.e5-1		NUF2_ENST00000490881.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site|NUF2_ENST00000524800.1_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.?(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCATCTTCAAGGGACTCATTT	0.333000													17	137					1.01871e-10	1.26291e-10	0.204396	1	0
PLEC	5339	broad.mit.edu	37	8	144992681	144992681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:144992681C>T	ENST00000322810.4	-	32	11888	c.11719G>A	c.(11719-11721)Ggc>Agc	p.G3907S	PLEC_ENST00000436759.2_Missense_Mutation_p.G3797S|PLEC_ENST00000527096.1_Missense_Mutation_p.G3793S|PLEC_ENST00000354589.3_Missense_Mutation_p.G3770S|PLEC_ENST00000357649.2_Missense_Mutation_p.G3774S|PLEC_ENST00000354958.2_Missense_Mutation_p.G3748S|PLEC_ENST00000345136.3_Missense_Mutation_p.G3770S|PLEC_ENST00000398774.2_Missense_Mutation_p.G3738S|PLEC_ENST00000356346.3_Missense_Mutation_p.G3756S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3907	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.G3907S(1)|p.G3797S(1)|p.G3770S(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCACGGTAGCCGGTGACCGCC	0.672000													11	12					0	0	0.105934	0	0
COL15A1	1306	broad.mit.edu	37	9	101817383	101817383	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:101817383G>T	ENST00000375001.3	+	33	3454		c.e33-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCTTTTTCAGGTCCTCCACT	0.353000													30	365					5.60225e-13	7.36173e-13	0.144211	1	0
EHD3	30845	broad.mit.edu	37	2	31483539	31483539	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:31483539C>A	ENST00000322054.5	+	4	951	c.666C>A	c.(664-666)gaC>gaA	p.D222E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	222					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.D222E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACAAAGCTGACCAGATCGAGA	0.552000													7	104					0.000157383	0.000168725	0.038147	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36276183	36276183	+	Missense_Mutation	SNP	G	G	A	rs139022184		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:36276183G>A	ENST00000007510.4	+	18	1958	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R605Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R469Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	605					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.R605Q(2)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGTGTCCCTCGAAAGAAGCCC	0.677000													29	63					0	0	0.183431	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509740	117509740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:117509740T>C	ENST00000393203.2	+	6	1994	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	616	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.L616P(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGTGAAGCTGGAGAATTGG	0.498000													22	151					0	0	0.069288	0	0
CUBN	8029	broad.mit.edu	37	10	17169921	17169921	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:17169921G>A	ENST00000377833.4	-	3	320	c.255C>T	c.(253-255)atC>atT	p.I85I	CUBN_ENST00000377823.1_Silent_p.I85I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	85					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTTTTCTGGATCTAATTTT	0.284000													13	122					0	0	0.093190	0	0
SMC4	10051	broad.mit.edu	37	3	160120494	160120494	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:160120494A>T	ENST00000357388.3	+	4	800	c.349A>T	c.(349-351)Agt>Tgt	p.S117C	SMC4_ENST00000469762.1_Missense_Mutation_p.S92C|SMC4_ENST00000360111.2_Missense_Mutation_p.S117C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.S117C|SMC4_ENST00000344722.5_Missense_Mutation_p.S117C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	117					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.S117C(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCCAAATGGCAGTGGCAAATC	0.323000													75	159					0	0	0.139131	0	0
ZAN	7455	broad.mit.edu	37	7	100350034	100350034	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100350034C>A	ENST00000542585.1	+	0	2454				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S769Y(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCTCCCCAGAAAAA	0.527000													36	63					6.5261e-18	9.50901e-18	0.104719	1	0
AFF2	2334	broad.mit.edu	37	X	147743879	147743879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:147743879G>T	ENST00000370460.2	+	3	1110	c.631G>T	c.(631-633)Gag>Tag	p.E211*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.E207*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.E207*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.E207*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	211					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E211*(4)|p.E211K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTTGAAGAGTCAAACCC	0.433000													126	146					8.89058e-54	1.71961e-53	0.139131	1	0
EPHA7	2045	broad.mit.edu	37	6	93964397	93964397	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:93964397C>T	ENST00000369303.4	-	14	2684	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	834	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E834K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAGGTCTTTCTCCATAAGAC	0.398000													28	70					0	0	0.173368	0	0
GLDC	2731	broad.mit.edu	37	9	6534776	6534776	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:6534776A>G	ENST00000321612.6	-	24	3001	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	951					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.S951P(2)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGGTCAGGGAGTGTGGAGAC	0.537000													6	60					0	0	0.021553	0	0
HCN1	348980	broad.mit.edu	37	5	45645683	45645683	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:45645683T>G	ENST00000303230.4	-	2	510	c.453A>C	c.(451-453)atA>atC	p.I151I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	151						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAACCATCATTATAAGCATTA	0.318000													5	175					0	0	0.184627	0	0
SEC13	6396	broad.mit.edu	37	3	10354321	10354321	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:10354321C>G	ENST00000397117.1	-	4	807	c.216G>C	c.(214-216)tgG>tgC	p.W72C	SEC13_ENST00000383801.2_Missense_Mutation_p.W132C|SEC13_ENST00000350697.3_Missense_Mutation_p.W86C|SEC13_ENST00000337354.4_Missense_Mutation_p.W89C|SEC13_ENST00000397109.3_Missense_Mutation_p.W72C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	86					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.W86C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTTCCTCTCTCCAGATAATGA	0.582000													66	174					0	0	0.139131	0	0
STPG2	285555	broad.mit.edu	37	4	98865110	98865110	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:98865110A>G	ENST00000295268.3	-	8	1071	c.982T>C	c.(982-984)Ttg>Ctg	p.L328L		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.L328L(1)									TTGTTAGTCAAGTTAGGTAAT	0.318000													11	259					0	0	0.093190	0	0
PLCE1	51196	broad.mit.edu	37	10	96005857	96005857	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:96005857C>A	ENST00000260766.3	+	8	3209	c.2575C>A	c.(2575-2577)Cag>Aag	p.Q859K	PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859K|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551K|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGATGTGCACCAGTTCCTGCT	0.582000													34	64					3.54909e-21	5.46188e-21	0.124865	1	0
CNTN4	152330	broad.mit.edu	37	3	2908612	2908612	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:2908612C>A	ENST00000397461.1	+	7	1015	c.631C>A	c.(631-633)Cca>Aca	p.P211T	CNTN4_ENST00000418658.1_Missense_Mutation_p.P211T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P211T|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	211					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P211T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCACCTACACCACTAATATT	0.383000													38	71					3.78316e-11	4.74371e-11	0.086207	1	0
KCNA4	3739	broad.mit.edu	37	11	30032330	30032330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:30032330C>A	ENST00000328224.6	-	2	3129	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	632						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGTCATCCCCCTTTCCCTGAC	0.483000													41	119					5.44703e-19	8.10329e-19	0.111260	1	0
OR1J4	26219	broad.mit.edu	37	9	125281931	125281931	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:125281931A>T	ENST00000340750.1	+	1	512	c.512A>T	c.(511-513)gAc>gTc	p.D171V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D171V(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTTGTGCTGACAACACCATC	0.512000													16	127					0	0	0.160694	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486484	76486484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:76486484C>G	ENST00000307431.8	+	9	1533	c.1148C>G	c.(1147-1149)cCa>cGa	p.P383R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335R|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGCACTGCCAGACTTCTCT	0.433000													38	149					0	0	0.080422	0	0
THSD7A	221981	broad.mit.edu	37	7	11582602	11582602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:11582602C>A	ENST00000423059.3	-	5	1847	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	532	TSP type-1 5.					integral to membrane		p.Q532H(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTCCCTTGCTGATCATTAC	0.388000										HNSCC(18;0.044)			25	60					7.07758e-08	8.21627e-08	0.099896	1	0
SSPO	23145	broad.mit.edu	37	7	149476708	149476708	+	RNA	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:149476708G>C	ENST00000378016.2	+	0	1158							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGCCACCTGCGGGCTGAAG	0.637000													5	10					0	0	0.184627	0	0
TRIM55	84675	broad.mit.edu	37	8	67064863	67064863	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:67064863G>T	ENST00000315962.4	+	8	1609		c.e8+1		TRIM55_ENST00000353317.5_Splice_Site|TRIM55_ENST00000276573.7_Splice_Site|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGTGACACAGGTAACCCCTCC	0.542000													28	135					1.75199e-13	2.31994e-13	0.125774	1	0
INTS5	80789	broad.mit.edu	37	11	62415826	62415826	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62415826G>A	ENST00000330574.2	-	2	1778	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	576					snRNA processing	integral to membrane|integrator complex	protein binding	p.R576C(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCCAAGTTGCGCAGGAACCGG	0.637000													13	133					0	0	0.093190	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936027	94936027	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94936027A>T	ENST00000337425.5	-	2	279	c.205T>A	c.(205-207)Ttt>Att	p.F69I	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.F51I|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.F69I|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	51					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.F69I(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CGGAAGGCAAAGTCGGTGTTG	0.582000													31	84					0	0	0.203993	0	0
COL3A1	1281	broad.mit.edu	37	2	189849689	189849689	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189849689G>T	ENST00000304636.3	+	2	452		c.e2+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.?(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAACTGCTGTGAGTTTAAA	0.388000													24	49					3.5997e-14	4.85194e-14	0.069288	1	0
OBSCN	84033	broad.mit.edu	37	1	228464950	228464950	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:228464950G>C	ENST00000570156.2	+	28	7889	c.7815G>C	c.(7813-7815)gcG>gcC	p.A2605A	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.A1077A|OBSCN_ENST00000422127.1_Silent_p.A2230A|OBSCN_ENST00000284548.11_Silent_p.A2230A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1599	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A2230A(2)|p.A2414A(1)|p.A2513A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAGTTCGCGGATCAGGGAG	0.642000													10	30					0	0	0.069234	0	0
DACH2	117154	broad.mit.edu	37	X	85404014	85404014	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:85404014C>A	ENST00000373131.1	+	1	553	c.390C>A	c.(388-390)atC>atA	p.I130I	DACH2_ENST00000373125.4_Silent_p.I130I	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	130	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.I130I(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGTCCGGATCCTCCGCGGGC	0.552000													32	51					2.42023e-17	3.47188e-17	0.183431	1	0
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:11187673G>T	ENST00000337414.4	-	9	2633	c.1761C>A	c.(1759-1761)atC>atA	p.I587I	ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000380736.1_Silent_p.I384I|ARHGAP6_ENST00000303025.6_Silent_p.I384I|ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000413512.3_Silent_p.I396I|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	587	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.I587I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493000													42	72					1.76056e-25	2.86685e-25	0.124865	1	0
LBP	3929	broad.mit.edu	37	20	36993349	36993349	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:36993349G>T	ENST00000217407.2	+	8	1025	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	288					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T288T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTTCAACACGGCCAGCCTGG	0.473000													80	178					3.1371e-51	6.00033e-51	0.139131	1	0
MYOM3	127294	broad.mit.edu	37	1	24388533	24388533	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24388533G>A	ENST00000330966.7	-	33	4008	c.3846C>T	c.(3844-3846)caC>caT	p.H1282H	MYOM3_ENST00000374434.3_Silent_p.H1279H|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Silent_p.H172H			Q5VTT5	MYOM3_HUMAN	myomesin 3	1279								p.H1279H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTCCAGGATGTGAAGCCAGA	0.532000													50	417					0	0	0.139131	0	0
CD163	9332	broad.mit.edu	37	12	7636091	7636091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:7636091C>A	ENST00000359156.4	-	12	3162	c.2960G>T	c.(2959-2961)gGg>gTg	p.G987V	CD163_ENST00000432237.2_Missense_Mutation_p.G987V|CD163_ENST00000396620.3_Missense_Mutation_p.G1020V|CD163_ENST00000541972.1_Missense_Mutation_p.G975V|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CGGTCCAGTCCCCTGACCAAA	0.517000													28	115					2.48779e-11	3.14894e-11	0.108266	1	0
COL4A2	1284	broad.mit.edu	37	13	111158944	111158944	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:111158944C>A	ENST00000360467.5	+	46	4891	c.4585C>A	c.(4585-4587)Cag>Aag	p.Q1529K	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1529	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q1529K(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCGCACAACCAGGACCTGGG	0.632000													4	14					0.014758	0.0151091	0.184627	1	0
ALPK2	115701	broad.mit.edu	37	18	56203934	56203934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:56203934G>T	ENST00000361673.3	-	5	3698	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1162							ATP binding|protein serine/threonine kinase activity	p.A523D(2)|p.A1162D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGTGCAGCAGATGTCGT	0.577000													49	196					5.82089e-37	1.06761e-36	0.139131	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768708	31768708	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:31768708T>G	ENST00000355459.2	+	1	317	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	102						intermediate filament		p.F102V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTCTAGGCTTTGGATCCAG	0.597000													7	97					0	0	0.029380	0	0
DENND4B	9909	broad.mit.edu	37	1	153905198	153905198	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:153905198C>G	ENST00000361217.4	-	23	4097	c.3679G>C	c.(3679-3681)Ggt>Cgt	p.G1227R	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1227								p.G1227R(1)|p.G1115R(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGGACCACCAGGGACAGGA	0.627000													11	128					0	0	0.069234	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783353	140783353	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140783353A>T	ENST00000573521.1	+	1	834	c.834A>T	c.(832-834)gcA>gcT	p.A278A	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCT	0.418000													35	118					0	0	0.173368	0	0
SSFA2	6744	broad.mit.edu	37	2	182784139	182784139	+	Missense_Mutation	SNP	G	G	T	rs150716378	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:182784139G>T	ENST00000431877.2	+	14	3289	c.3110G>T	c.(3109-3111)cGc>cTc	p.R1037L	SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000320370.7_Missense_Mutation_p.R1037L|SSFA2_ENST00000428267.2_Missense_Mutation_p.R884L|SSFA2_ENST00000409136.1_Missense_Mutation_p.R546L|SSFA2_ENST00000409001.1_Missense_Mutation_p.R1037L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1037						cytoplasm|plasma membrane	actin binding	p.R1037L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532000													8	352					3.09899e-07	3.54632e-07	0.047766	1	0
CPED1	79974	broad.mit.edu	37	7	120911455	120911455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:120911455C>A	ENST00000310396.5	+	22	3306	c.2839C>A	c.(2839-2841)Cag>Aag	p.Q947K		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.Q947K(1)									AGAGTTTCTACAGGGGAAGTG	0.328000													81	194					1.81764e-44	3.44381e-44	0.139131	1	0
ADCY5	111	broad.mit.edu	37	3	123046503	123046503	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:123046503T>A	ENST00000462833.1	-	7	3121	c.1909A>T	c.(1909-1911)Atc>Ttc	p.I637F	ADCY5_ENST00000491190.1_Missense_Mutation_p.I270F|ADCY5_ENST00000309879.5_Missense_Mutation_p.I287F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	637					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I637F(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGGTCTCGATACTGTGCTCC	0.622000													15	49					0	0	0.160694	0	0
COL5A1	1289	broad.mit.edu	37	9	137646119	137646119	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137646119G>T	ENST00000371817.3	+	16	2188	c.1773_splice	c.e16-1	p.G592_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	592	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G592C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCTGGCAGGGTCCTCGAGG	0.627000													45	80					3.10996e-30	5.38435e-30	0.139131	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147259322	147259322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:147259322C>A	ENST00000361727.3	+	12	2386	c.1870C>A	c.(1870-1872)Cct>Act	p.P624T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	624	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P624T(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCTCTGGGGCCTCTGAAAGT	0.413000										HNSCC(39;0.1)			75	153					1.86864e-30	3.24455e-30	0.139131	1	0
TRIML1	339976	broad.mit.edu	37	4	189068505	189068505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:189068505C>A	ENST00000332517.3	+	6	1526	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.C462*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCACCATCTGCTCACTGAACA	0.562000													23	119					4.59853e-10	5.61421e-10	0.108266	1	0
WDR36	134430	broad.mit.edu	37	5	110446486	110446486	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110446486G>T	ENST00000506538.2	+	14	2182		c.e14-1		WDR36_ENST00000505303.1_Splice_Site|WDR36_ENST00000513710.2_Splice_Site	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36						response to stimulus|rRNA processing|visual perception	small-subunit processome		p.?(2)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTACCTTACAGCTCACAAGGG	0.373000													20	43					1.56452e-12	2.0228e-12	0.189662	1	0
NCOA2	10499	broad.mit.edu	37	8	71056877	71056877	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:71056877C>G	ENST00000452400.2	-	13	2993	c.2812_splice	c.e13+1	p.G938_splice	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	938					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.G938R(2)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCCTTACCTGTGCTACTG	0.363000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								18	102					0	0	0.175082	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500307	48500307	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:48500307C>A	ENST00000396577.3	+	2	606	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	SLC12A1_ENST00000330289.6_Missense_Mutation_p.L131M|SLC12A1_ENST00000561031.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L131M|SLC12A1_ENST00000558405.1_Missense_Mutation_p.L131M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	131					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.L131M(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGACCCAGCCTGCTTGAGAT	0.468000													34	108					2.40579e-17	3.45528e-17	0.086207	1	0
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:131797656G>T	ENST00000286355.5	-	16	5218	c.3126C>A	c.(3124-3126)gcC>gcA	p.A1042A	ADCY8_ENST00000377928.3_Silent_p.A911A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCTGACACGGCCATGTAGG	0.498000										HNSCC(32;0.087)			38	178					7.53189e-24	1.2037e-23	0.098360	1	0
CUX2	23316	broad.mit.edu	37	12	111758230	111758230	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:111758230C>T	ENST00000261726.6	+	17	2571	c.2417C>T	c.(2416-2418)tCg>tTg	p.S806L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	806	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGTCGCCCTCGCTGTCCTCC	0.741000													5	55					0	0	0.047766	0	0
TEX13B	56156	broad.mit.edu	37	X	107224574	107224574	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:107224574G>A	ENST00000302917.1	-	3	767	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	225								p.L225L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAATAGCTCCGAGGGGCTGCC	0.592000													37	233					0	0	0.193644	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634713	206634713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:206634713G>T	ENST00000414007.1	+	19	2744	c.2744G>T	c.(2743-2745)gGt>gTt	p.G915V				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1055					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.G915V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAGCCCTGGTGTCAACTCA	0.502000													73	224					2.49587e-40	4.64841e-40	0.139131	1	0
NOBOX	135935	broad.mit.edu	37	7	144097391	144097391	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:144097391G>A	ENST00000467773.1	-	5	858	c.859C>T	c.(859-861)Cta>Tta	p.L287L	NOBOX_ENST00000483238.1_Silent_p.L287L|NOBOX_ENST00000223140.5_Silent_p.L202L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	287					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.L287L(4)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCTCTAGCTCCTCCAGC	0.507000													32	67					0	0	0.153744	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255192	140255192	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140255192G>T	ENST00000398631.2	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.V45V(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTTCGTGGGCCGCATCG	0.657000													41	79					1.05386e-31	1.85116e-31	0.139131	1	0
C3	718	broad.mit.edu	37	19	6692943	6692943	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:6692943C>G	ENST00000245907.6	-	26	3474	c.3382G>C	c.(3382-3384)Gaa>Caa	p.E1128Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1128					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACAATCATTTCTTGGTGTATC	0.562000													7	345					0	0	0.029380	0	0
SNIP1	79753	broad.mit.edu	37	1	38005774	38005774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:38005774C>A	ENST00000296215.6	-	3	982	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	304	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A304S(2)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGAAAGACCGCATGCTGCTTT	0.428000													40	213					7.05121e-23	1.11213e-22	0.117977	1	0
MUC17	140453	broad.mit.edu	37	7	100678604	100678604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100678604G>T	ENST00000306151.4	+	3	3971	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1303	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V1303F(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACACTAA	0.458000													141	331					7.00697e-89	1.391e-88	0.139131	1	0
ARFIP1	27236	broad.mit.edu	37	4	153802270	153802270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153802270G>T	ENST00000451320.2	+	6	731	c.567G>T	c.(565-567)atG>atT	p.M189I	ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000405727.2_Missense_Mutation_p.M157I|ARFIP1_ENST00000356064.3_Missense_Mutation_p.M157I|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000353617.2_Missense_Mutation_p.M189I			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	189	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.M189I(4)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTTCCAGATGGTACATACCC	0.348000													38	170					3.54561e-26	5.82872e-26	0.111260	1	0
RLTPR	146206	broad.mit.edu	37	16	67680671	67680671	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:67680671G>A	ENST00000334583.6	+	7	849	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	RLTPR_ENST00000545661.1_Missense_Mutation_p.R174Q	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	174								p.R214Q(1)|p.R174Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TTCCCTTTCCGAGAGGAGATT	0.577000													23	192					0	0	0.083992	0	0
MICAL3	57553	broad.mit.edu	37	22	18301457	18301457	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:18301457C>A	ENST00000441493.2	-	26	4322	c.3970G>T	c.(3970-3972)Gtg>Ttg	p.V1324L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1324	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.V1324L(2)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AACTCCTCCACCAGGTCGCTC	0.662000													65	96					5.10652e-33	9.15679e-33	0.139131	1	0
ADAM21	8747	broad.mit.edu	37	14	70924409	70924409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70924409C>A	ENST00000603540.1	+	2	451	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.L65M	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	65					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCCTATAGTCTGCGGTTTGG	0.537000													11	426					1.5739e-10	1.94717e-10	0.146539	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124423	142124423	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142124423C>A	ENST00000390376.2	-	0	54																											CCAGCATTCACTGGACCTGCA	0.547000													66	101					9.53695e-23	1.50026e-22	0.139131	1	0
ATXN1	6310	broad.mit.edu	37	6	16328052	16328052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:16328052C>A	ENST00000244769.4	-	8	1426	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ATXN1_ENST00000436367.1_Missense_Mutation_p.G164W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	164					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.G164W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGTGGCCCCTGCGGCCGAG	0.637000													31	64					2.54651e-27	4.24418e-27	0.092188	1	0
VPS16	64601	broad.mit.edu	37	20	2840774	2840774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:2840774G>T	ENST00000380445.3	+	3	289	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	VPS16_ENST00000380469.3_Missense_Mutation_p.G73C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	73					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.G73C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCTGCTTCCGGCATGCCTCT	0.577000													74	163					3.4779e-39	6.44749e-39	0.139131	1	0
TGM4	7047	broad.mit.edu	37	3	44951851	44951851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:44951851C>A	ENST00000296125.4	+	11	1665	c.1597C>A	c.(1597-1599)Caa>Aaa	p.Q533K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	533					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q533K(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCGCAGATCCAAGGTCAAGG	0.498000													30	53					3.17567e-06	3.55309e-06	0.134883	1	0
ITIH2	3698	broad.mit.edu	37	10	7763676	7763676	+	Missense_Mutation	SNP	C	C	T	rs141514196		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:7763676C>T	ENST00000358415.4	+	8	969	c.803C>T	c.(802-804)gCg>gTg	p.A268V	ITIH2_ENST00000379587.4_Missense_Mutation_p.A257V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A268V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGGAGACTGCGGTAGATGGG	0.552000													31	220					0	0	0.173368	0	0
ETNPPL	64850	broad.mit.edu	37	4	109670480	109670480	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:109670480C>T	ENST00000296486.3	-	8	995	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	ETNPPL_ENST00000510706.1_Missense_Mutation_p.G241S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G223S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G275S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.G281S(2)									TGGCCGTTGCCCATCGGTTTT	0.468000													60	185					0	0	0.139131	0	0
ALK	238	broad.mit.edu	37	2	29551271	29551271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:29551271C>A	ENST00000389048.3	-	6	2265	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	453	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.Q453H(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTCACAGGCCTGCCCAAGCT	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	136					3.62473e-10	4.43882e-10	0.062417	1	0
PLCB1	23236	broad.mit.edu	37	20	8770893	8770893	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:8770893G>T	ENST00000378641.3	+	31	3883	c.3408G>T	c.(3406-3408)ctG>ctT	p.L1136L	PLCB1_ENST00000378637.2_Silent_p.L1136L|PLCB1_ENST00000338037.6_Silent_p.L1136L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1136					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAGATCCTGGATGAAAAGC	0.338000													8	23					0.000274275	0.000291962	0.047766	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144863409	144863409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:144863409C>A	ENST00000369359.4	-	40	6440	c.6402G>T	c.(6400-6402)caG>caT	p.Q2134H	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1892H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2083H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1998					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCTTCACACTGTTGCTGCA	0.522000			T	PDGFRB	MPD								10	454					0.00829132	0.0085613	0.069234	1	0
CACNA1E	777	broad.mit.edu	37	1	181689959	181689959	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:181689959A>C	ENST00000526775.1	+	15	2089	c.1924A>C	c.(1924-1926)Acc>Ccc	p.T642P	CACNA1E_ENST00000358338.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T249P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T642P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T642P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T642P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	642					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T642P(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTTTGATACCTTCCCTGC	0.428000													16	30					0	0	0.062417	0	0
EPHA6	285220	broad.mit.edu	37	3	96706434	96706434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:96706434C>A	ENST00000389672.5	+	3	749	c.711C>A	c.(709-711)aaC>aaA	p.N237K	EPHA6_ENST00000470610.2_Missense_Mutation_p.N237K|EPHA6_ENST00000542517.1_Missense_Mutation_p.N143K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	142						integral to plasma membrane	ATP binding|ephrin receptor activity	p.N143K(4)|p.N237K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCAAGCCAAACCAGTATACAA	0.413000													97	342					9.27813e-46	1.76343e-45	0.139131	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222743	140222743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140222743C>A	ENST00000531613.1	+	1	1837	c.1837C>A	c.(1837-1839)Cca>Aca	p.P613T	PCDHA8_ENST00000378123.3_Missense_Mutation_p.P613T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1												p.P613T(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTGCAGCCAGCTGCAAG	0.687000													50	39					1.51926e-22	2.37445e-22	0.139131	1	0
BRINP3	339479	broad.mit.edu	37	1	190250721	190250721	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:190250721C>A	ENST00000367462.3	-	3	627	c.396G>T	c.(394-396)ggG>ggT	p.G132G	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		132						extracellular region		p.G132G(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAAATGTGTCCCATATTTCT	0.453000													32	206					1.21669e-08	1.44445e-08	0.183431	1	0
APOBEC4	403314	broad.mit.edu	37	1	183617876	183617876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:183617876G>A	ENST00000308641.4	-	2	312	c.41C>T	c.(40-42)aCa>aTa	p.T14I	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	14					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.T14I(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTTACTATTGTTCCATGATT	0.378000													35	153					0	0	0.173368	0	0
OGN	4969	broad.mit.edu	37	9	95165621	95165621	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:95165621G>T	ENST00000262551.4	-	2	489	c.69C>A	c.(67-69)acC>acA	p.T23T	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Silent_p.T23T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	23						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGTCCTGCTGGGTTGGTGGTG	0.383000													21	66					1.9806e-07	2.28166e-07	0.069288	1	0
KRT37	8688	broad.mit.edu	37	17	39578550	39578550	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:39578550T>G	ENST00000225550.3	-	4	868	c.869A>C	c.(868-870)gAt>gCt	p.D290A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	290	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CTGTTCCACATCCTGGTGGTT	0.587000													9	335					0	0	0.058154	0	0
WDR65	149465	broad.mit.edu	37	1	43638557	43638557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:43638557C>A	ENST00000372492.4	+	2	457	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	WDR65_ENST00000528956.1_Missense_Mutation_p.Q45K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	45								p.Q45K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAATGTGGATCAGAAATGGCA	0.383000													40	110					3.3946e-10	4.16972e-10	0.080422	1	0
ZC4H2	55906	broad.mit.edu	37	X	64139003	64139003	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:64139003A>T	ENST00000545618.1	-	5	1028	c.465T>A	c.(463-465)gcT>gcA	p.A155A	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Silent_p.A160A|ZC4H2_ENST00000337990.2_Silent_p.A137A			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	160							metal ion binding|protein binding	p.A160A(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTGGGCGGCAGCGGCTGCAG	0.582000													15	21					0	0	0.080422	0	0
GRM8	2918	broad.mit.edu	37	7	126173340	126173340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173340G>T	ENST00000339582.2	-	9	2904	c.2096C>A	c.(2095-2097)aCc>aAc	p.T699N	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.T699N|GRM8_ENST00000444921.2_Missense_Mutation_p.T699N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	699					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T699N(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGGCTGAAGGTGATCACCAG	0.498000										HNSCC(24;0.065)			34	68					6.84511e-11	8.52984e-11	0.183431	1	0
TRPM4	54795	broad.mit.edu	37	19	49704042	49704042	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:49704042G>T	ENST00000252826.5	+	19	3079	c.2953_splice	c.e19+1	p.V985_splice	TRPM4_ENST00000427978.2_Splice_Site_p.V840_splice|TRPM4_ENST00000355712.5_Splice_Site_p.V631_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	985					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.V985L(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACATGGACGGTAGGGGGGA	0.592000													15	63					4.7546e-09	5.68947e-09	0.146539	1	0
CHD6	84181	broad.mit.edu	37	20	40081428	40081428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:40081428T>A	ENST00000373233.3	-	21	3452	c.3275A>T	c.(3274-3276)tAc>tTc	p.Y1092F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1092					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.Y1092F(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGCTCGGAGGTAGCGCCTGGC	0.517000													8	222					0	0	0.058154	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476788	102476788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:102476788G>T	ENST00000360184.4	+	31	6561	c.6397G>T	c.(6397-6399)Gaa>Taa	p.E2133*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2133					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.E2133*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAATCTCCCTGAACAAGAGGT	0.388000													24	59					6.12954e-19	9.08498e-19	0.099896	1	0
KRBA1	84626	broad.mit.edu	37	7	149431011	149431011	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:149431011G>T	ENST00000255992.10	+	18	3364	c.2965G>T	c.(2965-2967)Gtg>Ttg	p.V989L	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.V929L|KRBA1_ENST00000319551.8_Missense_Mutation_p.V929L	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	990	Pro-rich.							p.V989L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCAGGAGTGGCACCAGA	0.667000													11	3					1.58986e-06	1.78878e-06	0.069234	1	0
EXT2	2132	broad.mit.edu	37	11	44228501	44228501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:44228501G>T	ENST00000395673.3	+	10	1809	c.1753G>T	c.(1753-1755)Ggt>Tgt	p.G585C	EXT2_ENST00000533608.1_Missense_Mutation_p.G552C|EXT2_ENST00000358681.4_Missense_Mutation_p.G562C|EXT2_ENST00000343631.3_Missense_Mutation_p.G552C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGCAATTTGGTTATGAGGT	0.353000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				44	186					1.89013e-27	3.15457e-27	0.139131	1	0
DDC	1644	broad.mit.edu	37	7	50596906	50596906	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:50596906C>A	ENST00000444124.2	-	5	770	c.570_splice	c.e5+1	p.Q190_splice	DDC_ENST00000357936.5_Splice_Site_p.Q190_splice|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Splice_Site_p.Q112_splice|DDC_ENST00000380984.4_Splice_Site_p.Q190_splice|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	190					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Q190H(4)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACACACTCACCTGATCGGATG	0.512000													108	209					1.14919e-56	2.23712e-56	0.139131	1	0
TH	7054	broad.mit.edu	37	11	2185532	2185532	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:2185532C>A	ENST00000381178.1	-	14	1536	c.1518G>T	c.(1516-1518)gtG>gtT	p.V506V	TH_ENST00000381175.1_Silent_p.V502V|TH_ENST00000333684.5_Silent_p.V385V|TH_ENST00000352909.3_Silent_p.V475V	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	506					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.V506V(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GGGAGCGCCGCACGGCCTGGG	0.667000													26	57					1.77063e-15	2.45243e-15	0.108266	1	0
FCGBP	8857	broad.mit.edu	37	19	40433455	40433455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:40433455G>T	ENST00000221347.6	-	2	821	c.814C>A	c.(814-816)Cag>Aag	p.Q272K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	272	IgGFc-binding.					extracellular region	protein binding	p.Q272K(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTGTGGCCTGGCTGGCCACA	0.602000													20	61					7.45023e-12	9.54041e-12	0.055883	1	0
FGB	2244	broad.mit.edu	37	4	155490753	155490753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155490753G>A	ENST00000302068.4	+	7	1109	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.G130E	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	349	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G349E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GACTGGAAAGGAGACAAAGTA	0.413000													19	172					0	0	0.189662	0	0
COL9A3	1299	broad.mit.edu	37	20	61460982	61460982	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:61460982C>A	ENST00000343916.3	+	21	1059	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	352	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.G352G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CTCTACAGGGCAGAGCTGGGG	0.706000													4	18					0.00024832	0.000265036	0.150653	1	0
NOTCH4	4855	broad.mit.edu	37	6	32168740	32168740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:32168740C>A	ENST00000375023.3	-	23	4321	c.4183G>T	c.(4183-4185)Gac>Tac	p.D1395Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1395					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1395Y(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCGGGTGGTCAGGGCCACAG	0.637000													27	57					1.16021e-09	1.41075e-09	0.125774	1	0
NCKAP5	344148	broad.mit.edu	37	2	133554252	133554252	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:133554252C>A	ENST00000409261.1	-	12	1231	c.858G>T	c.(856-858)gaG>gaT	p.E286D	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E286D|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E286D|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E286D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	286							protein binding	p.E286D(1)|p.E125D(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTTTCCACCTCTGAAAGCA	0.408000													3	40					0.150653	0.151787	0.150653	1	0
OTOA	146183	broad.mit.edu	37	16	21737980	21737980	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21737980G>T	ENST00000388958.3	+	18	2017		c.e18+1		OTOA_ENST00000388957.3_Splice_Site|OTOA_ENST00000388956.4_Splice_Site|OTOA_ENST00000286149.4_Splice_Site	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin						sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCAGTGCCTGGTAAGAAAACT	0.537000													30	154					4.4194e-11	5.52425e-11	0.173368	1	0
CCDC171	203238	broad.mit.edu	37	9	15745522	15745522	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:15745522A>C	ENST00000380701.3	+	18	2892	c.2564A>C	c.(2563-2565)aAg>aCg	p.K855T	CCDC171_ENST00000297641.3_Missense_Mutation_p.K855T	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	855								p.K855T(2)|p.K122T(2)									GAACATCAAAAGGAGCAGTTG	0.333000													95	257					0	0	0.139131	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906614	84906614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:84906614G>C	ENST00000262424.5	+	10	1222	c.998G>C	c.(997-999)cGc>cCc	p.R333P	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R333P|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R332P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1.					extracellular region|transport vesicle		p.R333P(2)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGCATATGCCGCGCCGCCATC	0.547000													27	180					0	0	0.116897	0	0
SDK1	221935	broad.mit.edu	37	7	4153708	4153708	+	Missense_Mutation	SNP	G	G	T	rs142268038		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:4153708G>T	ENST00000404826.2	+	25	3764	c.3625G>T	c.(3625-3627)Gtg>Ttg	p.V1209L	SDK1_ENST00000389531.3_Missense_Mutation_p.V1209L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1209	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.V1209L(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGAGTCCGTGGGCTACAG	0.587000													17	159					1.99824e-07	2.2954e-07	0.160694	1	0
CLASP1	23332	broad.mit.edu	37	2	122106236	122106236	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:122106236T>A	ENST00000263710.4	-	38	4654	c.4265A>T	c.(4264-4266)cAg>cTg	p.Q1422L	CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1378L|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1355L|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q1139L|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1362L|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1361L|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q1129L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1422	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.Q1422L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATGCACTGCTCCGGGTG	0.587000													11	32					0	0	0.105934	0	0
NAGPA	51172	broad.mit.edu	37	16	5078049	5078049	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:5078049C>A	ENST00000312251.3	-	6	1077	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.R353L	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	353					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.R353L(2)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCCGGGACCCCGCCAGAAGTG	0.687000													12	48					0.000958276	0.00101026	0.189662	1	0
ASTL	431705	broad.mit.edu	37	2	96801117	96801117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:96801117G>C	ENST00000342380.2	-	3	215	c.216C>G	c.(214-216)ttC>ttG	p.F72L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	72					proteolysis		metalloendopeptidase activity|zinc ion binding	p.F72L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCGATGAGGAAGCTGCTCT	0.607000													12	70					0	0	0.080935	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773147	140773147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140773147C>A	ENST00000398604.2	+	1	767	c.767C>A	c.(766-768)cCc>cAc	p.P256H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1												p.P256H(2)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACATGCCCCCAGGCACG	0.488000													33	127					5.8336e-16	8.15486e-16	0.183431	1	0
ZNF536	9745	broad.mit.edu	37	19	31039347	31039347	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:31039347C>A	ENST00000355537.3	+	4	2968	c.2821C>A	c.(2821-2823)Ctg>Atg	p.L941M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACAAAGCCCTGGCTGACCC	0.512000													17	425					3.32936e-07	3.79913e-07	0.175082	1	0
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:203452395C>A	ENST00000343110.2	+	2	210	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P28H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647000													77	162					9.4237e-28	1.59041e-27	0.139131	1	0
IGKV1-33	28933	broad.mit.edu	37	2	89568195	89568195	+	RNA	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:89568195A>T	ENST00000473726.1	-	0	68																											CCAGAGCAGCAGGAGCCCCAG	0.527000													9	144					0	0	0.119110	0	0
GALC	2581	broad.mit.edu	37	14	88407816	88407816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:88407816C>A	ENST00000261304.2	-	15	1863	c.1757G>T	c.(1756-1758)gGt>gTt	p.G586V	GALC_ENST00000393569.2_Missense_Mutation_p.G560V|GALC_ENST00000393568.4_Missense_Mutation_p.G563V|GALC_ENST00000544807.2_Missense_Mutation_p.G530V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	586					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.G586V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATCAAAATACCACCTTTATT	0.358000													42	347					6.21074e-16	8.66197e-16	0.124865	1	0
CSMD3	114788	broad.mit.edu	37	8	113246706	113246706	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113246706C>A	ENST00000297405.5	-	68	10872	c.10627_splice	c.e68-1	p.G3543_splice	CSMD3_ENST00000352409.3_Splice_Site_p.G3473_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3503_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G3374_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3543						integral to membrane|plasma membrane		p.G3503V(2)|p.G3543V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATATACCCCTGTAAAATG	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	297					5.61819e-17	8.03074e-17	0.108266	1	0
PLCB1	23236	broad.mit.edu	37	20	8770894	8770894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:8770894G>T	ENST00000378641.3	+	31	3884	c.3409G>T	c.(3409-3411)Gat>Tat	p.D1137Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.D1137Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D1137Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1137					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAGATCCTGGATGAAAAGCC	0.343000													8	22					0.000274275	0.000291962	0.047766	1	0
REG3A	5068	broad.mit.edu	37	2	79384784	79384784	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79384784C>A	ENST00000393878.1	-	4	628	c.374G>T	c.(373-375)aGt>aTt	p.S125I	REG3A_ENST00000409839.3_Missense_Mutation_p.S125I|REG3A_ENST00000305165.2_Missense_Mutation_p.S125I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S125I(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCACATCACTGCTACTCCA	0.542000													54	160					1.0331e-37	1.90349e-37	0.139131	1	0
OR4B1	119765	broad.mit.edu	37	11	48238932	48238932	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:48238932T>C	ENST00000309562.2	+	1	589	c.571T>C	c.(571-573)Ttc>Ctc	p.F191L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F191L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGACACCTTCATGGAGGG	0.453000													9	197					0	0	0.058154	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688809	65688809	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:65688809C>A	ENST00000335257.6	+	9	1151	c.804C>A	c.(802-804)gtC>gtA	p.V268V	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Silent_p.V268V			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CTTCTTCCGTCCGCAGTGCGC	0.552000													11	225					1.58986e-06	1.78878e-06	0.069234	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854255	178854255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:178854255G>T	ENST00000367635.3	+	12	1287	c.949G>T	c.(949-951)Gca>Tca	p.A317S	RALGPS2_ENST00000324778.4_Missense_Mutation_p.A282S|RALGPS2_ENST00000367634.2_Missense_Mutation_p.A317S|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	317					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAAGTGTGGCAGCTGAAGG	0.448000													36	80					4.65686e-17	6.66451e-17	0.193644	1	0
CDH24	64403	broad.mit.edu	37	14	23517500	23517500	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:23517500G>A	ENST00000397359.3	-	13	2408	c.2149C>T	c.(2149-2151)Ccc>Tcc	p.P717S	CDH24_ENST00000267383.5_Missense_Mutation_p.P717S|CDH24_ENST00000554034.1_Missense_Mutation_p.P679S|CDH24_ENST00000487137.2_Missense_Mutation_p.P679S|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	717					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		cggcgcgcgggagggccgggc	0.791000													5	53					0	0	0.184627	0	0
EIF4A2	1974	broad.mit.edu	37	3	186505350	186505350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:186505350G>T	ENST00000323963.5	+	9	1040	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	EIF4A2_ENST00000440191.2_Missense_Mutation_p.V327F|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V231F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	326	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.V326F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTCAAGTCGTGTTCTGATCAC	0.398000			T	BCL6	NHL								90	203					6.07207e-39	1.12222e-38	0.139131	1	0
STK32C	282974	broad.mit.edu	37	10	134040418	134040418	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:134040418G>T	ENST00000368622.1	-	4	555	c.174C>A	c.(172-174)ggC>ggA	p.G58G	STK32C_ENST00000368625.4_Silent_p.G188G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	175							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G188G(2)|p.G175G(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAGGTCCCCGCCCAGTAGCA	0.627000													31	54					1.61788e-16	2.28552e-16	0.163468	1	0
HYDIN	54768	broad.mit.edu	37	16	70897063	70897063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:70897063G>T	ENST00000393567.2	-	68	11644	c.11494C>A	c.(11494-11496)Cgt>Agt	p.R3832S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3832								p.R3831S(2)|p.R3783S(2)|p.R3831C(1)|p.R3783C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTGGACACGTCCTGAATTA	0.463000													18	57					6.33239e-15	8.65139e-15	0.055883	1	0
FAF1	11124	broad.mit.edu	37	1	50941174	50941174	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:50941174C>A	ENST00000396153.2	-	18	2282	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	FAF1_ENST00000545823.1_Missense_Mutation_p.D369Y|FAF1_ENST00000371778.4_Missense_Mutation_p.D611Y	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	611	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.D611Y(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTACTCATCCCATGGAAAT	0.488000													6	196					0.00198382	0.00206612	0.029380	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565835	33565835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:33565835C>A	ENST00000321505.4	+	1	2015	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T612N|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T612N					KIAA1549-like									p.T612N(4)									TTTCCCAGGACCTCCTCCAGA	0.502000													14	172					3.27435e-08	3.83813e-08	0.119110	1	0
TET1	80312	broad.mit.edu	37	10	70446412	70446412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:70446412G>T	ENST00000373644.4	+	11	5561	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1784					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.K1784N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAAGCGGAAGAATAACTCAA	0.458000													18	123					1.37522e-17	1.98937e-17	0.189662	1	0
GUCY2F	2986	broad.mit.edu	37	X	108628501	108628501	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:108628501A>C	ENST00000218006.2	-	16	3258	c.2967T>G	c.(2965-2967)gtT>gtG	p.V989V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	989	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V989V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACTCCAGCAACAACCGGCC	0.478000													7	91					0	0	0.119110	0	0
SKA2	348235	broad.mit.edu	37	17	57232319	57232319	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:57232319G>A	ENST00000580541.1	-	1	226	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SKA2_ENST00000583380.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000437036.2_Silent_p.L42L			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.L42L(2)		lung(4)	4						CCCCTTACCCGAGGCGGTTTA	0.612000													6	195					0	0	0.029380	0	0
RYR2	6262	broad.mit.edu	37	1	237955446	237955446	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237955446G>T	ENST00000366574.2	+	94	13922	c.13605G>T	c.(13603-13605)acG>acT	p.T4535T	RYR2_ENST00000542537.1_Silent_p.T4519T|RYR2_ENST00000360064.6_Silent_p.T4541T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4535					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T4533T(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTCCCCACGAGAAGTTCAA	0.463000													7	37					5.4927e-09	6.54669e-09	0.047766	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376671	75376671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:75376671C>A	ENST00000555647.1	-	8	1132	c.845G>T	c.(844-846)aGg>aTg	p.R282M	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R251M|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R282M|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R282M			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	282	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity	p.R282M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGGAGAAGTCCTAGGAGGCTC	0.642000													41	116					1.38162e-09	1.6749e-09	0.104719	1	0
CCDC102B	79839	broad.mit.edu	37	18	66564585	66564585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:66564585G>C	ENST00000360242.5	+	6	1300	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D395H|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D395H|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D395H	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	395								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGCTTTTGGATAAGAAAAA	0.408000													13	232					0	0	0.105934	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:74899193C>A	ENST00000289575.5	+	8	1380	c.985C>A	c.(985-987)Ccc>Acc	p.P329T	SLCO2B1_ENST00000531756.1_Missense_Mutation_p.P74T|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.P185T|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P307T|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.P213T|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.P102T|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.P102T|SLCO2B1_ENST00000526660.1_3'UTR	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	329					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.P329T(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAAGGACTCTCCCTCTAAGCA	0.557000													33	58					6.05902e-23	9.56896e-23	0.193644	1	0
INSC	387755	broad.mit.edu	37	11	15243085	15243085	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:15243085G>T	ENST00000379554.3	+	8	1069	c.1023G>T	c.(1021-1023)cgG>cgT	p.R341R	INSC_ENST00000530161.1_Silent_p.R294R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Silent_p.R252R|INSC_ENST00000379556.3_Silent_p.R294R|INSC_ENST00000528567.1_Silent_p.R294R|INSC_ENST00000525218.1_Silent_p.R252R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	341					cell differentiation|nervous system development	cytoplasm	binding	p.R341R(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCCACACGGGCTGAGGCTG	0.637000													26	60					9.86064e-34	1.78142e-33	0.139131	1	0
TTLL11	158135	broad.mit.edu	37	9	124751501	124751501	+	Silent	SNP	C	C	G	rs144762491		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:124751501C>G	ENST00000321582.5	-	4	1699	c.1512G>C	c.(1510-1512)acG>acC	p.T504T	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Silent_p.T504T	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	504	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.T504T(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCGGCCTCCCCGTGGGGATGT	0.577000													21	228					0	0	0.069288	0	0
FLG	2312	broad.mit.edu	37	1	152285480	152285480	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152285480G>C	ENST00000368799.1	-	3	1917	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	628	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q628E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTGACTGTCACTG	0.567000									Ichthyosis				232	525					0	0	0.139131	0	0
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:126173069G>A	ENST00000339582.2	-	9	3175	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	GRM8_ENST00000358373.3_Silent_p.T789T|GRM8_ENST00000444921.2_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATGCAGGTGGTATACATGG	0.408000										HNSCC(24;0.065)			15	100					0	0	0.132662	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140559208G>A	ENST00000239444.2	+	1	1838	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672000													45	307					0	0	0.139131	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:43430713G>A	ENST00000446844.3	-	0	954				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493000													103	544					0	0	0.139131	0	0
TG	7038	broad.mit.edu	37	8	133984858	133984858	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:133984858G>A	ENST00000220616.4	+	34	6111	c.6071G>A	c.(6070-6072)tGt>tAt	p.C2024Y	TG_ENST00000519543.1_Missense_Mutation_p.C178Y|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.C1967Y|TG_ENST00000542445.1_Missense_Mutation_p.C394Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2024					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTGACATGTCTCACTCTG	0.443000													7	413					0	0	0.038147	0	0
USH2A	7399	broad.mit.edu	37	1	216143975	216143975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216143975C>A	ENST00000366943.2	-	36	7335	c.6949G>T	c.(6949-6951)Ggc>Tgc	p.G2317C	USH2A_ENST00000307340.3_Missense_Mutation_p.G2317C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2317	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2317C(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAGTGGGCCCAGAGCACAA	0.453000										HNSCC(13;0.011)			33	178					1.22384e-17	1.7725e-17	0.173368	1	0
OR4A15	81328	broad.mit.edu	37	11	55135664	55135664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:55135664C>A	ENST00000314706.3	+	1	305	c.305C>A	c.(304-306)tCt>tAt	p.S102Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S102Y(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCGTCTATTCTACTGCATTT	0.413000													83	225					5.2429e-30	9.05114e-30	0.139131	1	0
NPY4R	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:47087209C>T	ENST00000374312.1	+	3	845	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPY4R_ENST00000395716.1_Silent_p.L142L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.L142L(2)									GGCATCAGCTCATCATCAACC	0.592000													54	419					0	0	0.139131	0	0
ZP4	57829	broad.mit.edu	37	1	238051764	238051764	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:238051764C>A	ENST00000366570.4	-	4	605	c.447G>T	c.(445-447)cgG>cgT	p.R149R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	149	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R149R(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCAGTCTGTCCCGTGCTGGGA	0.473000													58	266					1.3268e-25	2.16639e-25	0.139131	1	0
KMT2C	58508	broad.mit.edu	37	7	151962159	151962159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:151962159C>A	ENST00000355193.2	-	8	1366	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	KMT2C_ENST00000262189.6_Missense_Mutation_p.W383L					lysine (K)-specific methyltransferase 2C									p.W383L(2)									AGGACATTGCCAACCTGCACG	0.438000													18	726					5.45024e-15	7.4716e-15	0.083992	1	0
MUC21	394263	broad.mit.edu	37	6	30955175	30955175	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:30955175C>A	ENST00000376296.3	+	2	1464	c.1223C>A	c.(1222-1224)tCt>tAt	p.S408Y	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	408	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S408Y(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.622000													36	159					1.17673e-23	1.87313e-23	0.139131	1	0
TTC5	91875	broad.mit.edu	37	14	20763566	20763566	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:20763566G>T	ENST00000258821.3	-	8	1019	c.963C>A	c.(961-963)ctC>ctA	p.L321L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	321					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TCAGTGGCTTGAGCTCCAGGG	0.582000													4	92					6.32553e-13	8.29409e-13	0.099896	1	0
OR52B4	143496	broad.mit.edu	37	11	4389399	4389399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4389399C>A	ENST00000408920.2	-	1	217	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCTGTTCCCAAGAAGGGCG	0.522000													9	62					0.00448238	0.00465627	0.047766	1	0
SCN2B	6327	broad.mit.edu	37	11	118037639	118037639	+	Missense_Mutation	SNP	G	G	A	rs140034265		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:118037639G>A	ENST00000278947.5	-	4	852	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	204					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TTCACCGTCCGTCTTGCCCTC	0.602000													5	265					0	0	0.021553	0	0
SPEF2	79925	broad.mit.edu	37	5	35793323	35793323	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:35793323G>T	ENST00000440995.2	+	32	4602	c.4602G>T	c.(4600-4602)ctG>ctT	p.L1534L	SPEF2_ENST00000303129.4_Silent_p.L336L|SPEF2_ENST00000356031.3_Silent_p.L1539L|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1539					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.L1539L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGTTCCTGTTAGTAACCT	0.448000													52	193					3.88204e-17	5.56225e-17	0.139131	1	0
RGS7BP	401190	broad.mit.edu	37	5	63803699	63803699	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:63803699C>G	ENST00000334025.2	+	2	653	c.327C>G	c.(325-327)atC>atG	p.I109M	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	109					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGGCTGCCATCTCAGGGTAGG	0.488000													5	70					0	0	0.184627	0	0
CPED1	79974	broad.mit.edu	37	7	120911454	120911454	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:120911454A>T	ENST00000310396.5	+	22	3305	c.2838A>T	c.(2836-2838)ctA>ctT	p.L946L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.L946L(1)|p.Q947K(1)									AAGAGTTTCTACAGGGGAAGT	0.328000													82	191					0	0	0.139131	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350576	50350576	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:50350576C>T	ENST00000376020.2	-	6	3591	c.3566G>A	c.(3565-3567)gGc>gAc	p.G1189D	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1073D|SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1189D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1189					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCCAGGTGGCCAAAGCTGAG	0.537000													6	61					0	0	0.029380	0	0
USP6	9098	broad.mit.edu	37	17	5045714	5045714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:5045714G>A	ENST00000574788.1	+	25	3965	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	USP6_ENST00000332776.4_Missense_Mutation_p.G579R|USP6_ENST00000304328.5_Missense_Mutation_p.G262R|USP6_ENST00000250066.6_Missense_Mutation_p.G579R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	579					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G579R(4)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTATGAAGGGGCATATGGC	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								20	63					0	0	0.076483	0	0
SPN	6693	broad.mit.edu	37	16	29675148	29675148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:29675148G>T	ENST00000360121.3	+	2	191	c.99G>T	c.(97-99)ttG>ttT	p.L33F	SPN_ENST00000395389.2_Missense_Mutation_p.L33F|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	33					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	p.L33F(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAGAGCCTTTGGTCTCTACTA	0.577000													67	202					2.89935e-36	5.28551e-36	0.139131	1	0
NPHP3	27031	broad.mit.edu	37	3	132440852	132440852	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:132440852C>T	ENST00000326682.8	-	1	424	c.348G>A	c.(346-348)gaG>gaA	p.E116E	NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Silent_p.E116E|NPHP3_ENST00000337331.5_Silent_p.E116E|NPHP3_ENST00000383282.2_Silent_p.E116E			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	116					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.E116E(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCTTGGCCTCGCGGCGGC	0.667000													18	57					0	0	0.091800	0	0
PRKD1	5587	broad.mit.edu	37	14	30133065	30133065	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:30133065C>A	ENST00000331968.5	-	4	765	c.535_splice	c.e4-1	p.G179_splice	PRKD1_ENST00000415220.2_Splice_Site_p.G179_splice	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	179					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.G179V(4)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGACCACACCCTGGAAAGGG	0.358000													72	213					7.59065e-32	1.33724e-31	0.139131	1	0
MRPL30	51263	broad.mit.edu	37	2	99804653	99804653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:99804653G>T	ENST00000338148.3	+	3	263	c.65G>T	c.(64-66)gGt>gTt	p.G22V	MRPL30_ENST00000410042.1_Missense_Mutation_p.G22V|MRPL30_ENST00000465432.1_Intron|MRPL30_ENST00000409145.1_Missense_Mutation_p.G22V|C2orf15_ENST00000512183.2_Missense_Mutation_p.G22V	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	22					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G22V(2)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAAGGTGTGGAGTCT	0.313000													9	32					0.00829132	0.0085613	0.069234	1	0
PRPF38B	55119	broad.mit.edu	37	1	109241225	109241225	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:109241225G>T	ENST00000370021.1	+	6	862		c.e6-1		PRPF38B_ENST00000370025.4_Splice_Site			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing|RNA splicing	spliceosomal complex		p.?(2)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TGTTTCTGTAGGACCTAGATG	0.353000													24	94					5.77227e-19	8.56599e-19	0.134883	1	0
NEDD4	4734	broad.mit.edu	37	15	56140724	56140724	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:56140724T>C	ENST00000508342.1	-	12	3034	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S	NEDD4_ENST00000506154.1_Missense_Mutation_p.N896S|NEDD4_ENST00000338963.2_Missense_Mutation_p.N840S|NEDD4_ENST00000435532.3_Missense_Mutation_p.N493S			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	912	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.N493S(2)|p.N840S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATACTGTGATTTATGTAGAA	0.308000													41	61					0	0	0.098360	0	0
C9orf84	158401	broad.mit.edu	37	9	114538232	114538232	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:114538232G>T	ENST00000374287.3	-	5	349	c.89C>A	c.(88-90)aCc>aAc	p.T30N	C9orf84_ENST00000374283.5_Missense_Mutation_p.T94N|C9orf84_ENST00000318737.4_Missense_Mutation_p.T30N			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	30								p.T30N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAATCTGGGTCACCATTCT	0.318000													18	60					1.56452e-12	2.0228e-12	0.189662	1	0
RXRG	6258	broad.mit.edu	37	1	165378913	165378913	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:165378913G>A	ENST00000359842.5	-	7	1230	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	310	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGGCAATCAGCAATTCATTC	0.502000													5	79					0	0	0.184627	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408635	80408635	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:80408635T>C	ENST00000265080.4	+	14	2112	c.2045T>C	c.(2044-2046)cTc>cCc	p.L682P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	682	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L682P(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGGGAAACTCTCCGACATA	0.493000													68	189					0	0	0.139131	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089158	113089158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:113089158C>G	ENST00000409871.1	+	12	3064	c.2663C>G	c.(2662-2664)cCt>cGt	p.P888R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P888R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	888							nucleic acid binding|zinc ion binding	p.P888R(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTCCAGTACCTTTACCTAAA	0.403000													16	45					0	0	0.132662	0	0
EPHA5	2044	broad.mit.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K|EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.Q730K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATCAAACTGTCCCATGATA	0.388000										TSP Lung(17;0.13)			60	249					2.2129e-31	3.87016e-31	0.139131	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118006108	118006108	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:118006108C>A	ENST00000310754.4	-	1	628	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	148	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D148Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTTGGGTCTGACAGGCAG	0.383000													48	139					8.00217e-19	1.1846e-18	0.139131	1	0
LBP	3929	broad.mit.edu	37	20	36993396	36993396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:36993396C>A	ENST00000217407.2	+	8	1072	c.911C>A	c.(910-912)aCa>aAa	p.T304K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	304					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T304K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTCTCCATCACAGATGACATG	0.453000													65	152					1.7104e-27	2.86652e-27	0.139131	1	0
PSD	5662	broad.mit.edu	37	10	104173662	104173662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:104173662C>G	ENST00000020673.5	-	5	1943	c.1417G>C	c.(1417-1419)Gct>Cct	p.A473P	PSD_ENST00000406432.1_Missense_Mutation_p.A473P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	473					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.A258P(2)|p.A473P(2)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCATCAGCAGCAGAGCTGGTA	0.662000													36	67					0	0	0.086207	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890471	43890471	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:43890471C>T	ENST00000300283.6	+	8	1349	c.957C>T	c.(955-957)aaC>aaT	p.N319N	CKMT1B_ENST00000441322.1_Silent_p.N319N	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	319	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.N319N(2)		large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCCATCTAACCTGGGCACTG	0.512000													87	160					0	0	0.139131	0	0
LYST	1130	broad.mit.edu	37	1	235973688	235973688	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:235973688T>C	ENST00000389794.3	-	5	604	c.430A>G	c.(430-432)Aga>Gga	p.R144G	LYST_ENST00000536965.1_Missense_Mutation_p.R144G|LYST_ENST00000389793.2_Missense_Mutation_p.R144G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	144					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R144G(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGCTGTCGTCTGCTTTTTCGA	0.398000													21	267					0	0	0.062417	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393555	136393555	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:136393555A>T	ENST00000264160.4	+	10	1164	c.794A>T	c.(793-795)aAa>aTa	p.K265I	R3HDM1_ENST00000410054.1_Missense_Mutation_p.K209I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.K221I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.K221I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.K265I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	265							nucleic acid binding	p.K265I(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCTTTGACAAAGATGATAAC	0.323000													37	138					0	0	0.193644	0	0
COL5A2	1290	broad.mit.edu	37	2	189904126	189904126	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189904126G>A	ENST00000374866.3	-	51	4071	c.3797C>T	c.(3796-3798)cCa>cTa	p.P1266L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1266L(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGAACCCCTGGGTCCGTTTT	0.517000													27	66					0	0	0.116897	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787877	27787877	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:27787877T>C	ENST00000318304.8	+	4	382	c.99T>C	c.(97-99)ttT>ttC	p.F33F	PPFIBP1_ENST00000545334.1_Silent_p.F33F|PPFIBP1_ENST00000542629.1_Silent_p.F33F|PPFIBP1_ENST00000228425.6_Silent_p.F33F|PPFIBP1_ENST00000535047.1_Silent_p.F33F|PPFIBP1_ENST00000537927.1_Intron	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	33					cell adhesion	plasma membrane	protein binding	p.F33F(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATGGGATTTTTGATTGCCAAT	0.418000													8	241					0	0	0.047766	0	0
TAF1L	138474	broad.mit.edu	37	9	32633786	32633786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:32633786C>A	ENST00000242310.4	-	1	1881	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	598					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCGAAGACCCTGTTGCTTG	0.478000													103	322					3.77761e-39	6.99236e-39	0.139131	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48143570	48143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:48143570C>A	ENST00000405493.2	-	9	931	c.722G>T	c.(721-723)tGg>tTg	p.W241L	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.W241L|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.W283L|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.W283L	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	241					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.W241L(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GATAATGTACCACGAAGTGCC	0.592000													79	89					5.41795e-27	8.9679e-27	0.139131	1	0
KCNK18	338567	broad.mit.edu	37	10	118960761	118960761	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:118960761C>T	ENST00000334549.1	+	2	315	c.315C>T	c.(313-315)agC>agT	p.S105S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	105						integral to membrane|plasma membrane		p.S105S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCTTCCTGAGCTCGCTCTTTT	0.557000													103	180					0	0	0.139131	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444598	49444598	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:49444598T>A	ENST00000374201.3	-	9	1224		c.e9-2		FRMPD2_ENST00000305531.3_Splice_Site|FRMPD2_ENST00000407470.4_Splice_Site	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.?(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTGGAAAACTGGAGGAAAAC	0.552000													8	80					0	0	0.047766	0	0
KCTD3	51133	broad.mit.edu	37	1	215759874	215759874	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:215759874G>C	ENST00000259154.4	+	9	957	c.663G>C	c.(661-663)acG>acC	p.T221T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	221						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.T221T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGTGTTTACGAGCCCATATT	0.443000													61	206					0	0	0.139131	0	0
ASB10	136371	broad.mit.edu	37	7	150878458	150878458	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:150878458C>A	ENST00000422024.1	-	3	932	c.807G>T	c.(805-807)cgG>cgT	p.R269R	ASB10_ENST00000377867.3_Silent_p.R209R|ASB10_ENST00000420175.2_Silent_p.R224R|ASB10_ENST00000434669.1_Silent_p.R269R|ASB10_ENST00000275838.1_Silent_p.R224R	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	224					intracellular signal transduction			p.R224R(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGCCAAGCCGGGCGGCCA	0.632000													26	47					4.72057e-08	5.51191e-08	0.091800	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140712339G>T	ENST00000517417.1	+	1	2088	c.2088G>T	c.(2086-2088)gcG>gcT	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1												p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672000													49	80					1.80625e-27	3.02297e-27	0.139131	1	0
TBX22	50945	broad.mit.edu	37	X	79277847	79277847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:79277847C>A	ENST00000373294.5	+	1	107	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.P27T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	27					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P27T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAAGACCCAATACAGGC	0.607000													14	28					1.49906e-05	1.64965e-05	0.119110	1	0
ITIH1	3697	broad.mit.edu	37	3	52818397	52818397	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:52818397C>T	ENST00000273283.2	+	11	1335	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	ITIH1_ENST00000540715.1_Silent_p.H295H|ITIH1_ENST00000537050.1_Silent_p.H149H|ITIH1_ENST00000542827.1_Silent_p.H437H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	437	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.H437H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTCGGCCACAATGTGGACT	0.577000													35	73					0	0	0.183431	0	0
USP9X	8239	broad.mit.edu	37	X	41043661	41043661	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:41043661C>T	ENST00000324545.7	+	23	3924	c.3291C>T	c.(3289-3291)gcC>gcT	p.A1097A	USP9X_ENST00000378308.2_Silent_p.A1097A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1097					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.A1090A(2)|p.A1097A(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTATGCCTTGTTAATGC	0.398000													47	67					0	0	0.139131	0	0
CXorf61	203413	broad.mit.edu	37	X	115593113	115593113	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:115593113G>T	ENST00000371894.4	-	2	283	c.137C>A	c.(136-138)tCt>tAt	p.S46Y		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	46						integral to membrane|plasma membrane		p.S46Y(2)		breast(1)|large_intestine(3)|lung(8)	12						AATTAACCCAGAAGAAGAGGG	0.398000													48	62					1.19451e-25	1.95304e-25	0.139131	1	0
SMEK1	55671	broad.mit.edu	37	14	91927780	91927780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:91927780C>A	ENST00000554684.1	-	14	2793	c.2297G>T	c.(2296-2298)gGc>gTc	p.G766V	SMEK1_ENST00000337238.4_Missense_Mutation_p.G766V|SMEK1_ENST00000428424.2_Missense_Mutation_p.G540V|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554943.1_Missense_Mutation_p.G779V|SMEK1_ENST00000555462.1_Missense_Mutation_p.G540V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	779						microtubule organizing center|nucleus	protein binding	p.G779V(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAGGAGAGCCTGGAGATCC	0.488000													58	340					5.99346e-17	8.55701e-17	0.139131	1	0
SH2B1	25970	broad.mit.edu	37	16	28878264	28878264	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:28878264G>T	ENST00000337120.5	+	1	4140	c.849G>T	c.(847-849)ggG>ggT	p.G283G	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000322610.8_Silent_p.G283G|SH2B1_ENST00000395532.4_Silent_p.G283G|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Silent_p.G283G	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	283	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G283G(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGGGAGGAGGGCAGCCTCAGT	0.647000													12	48					0.000151284	0.000163057	0.105934	1	0
OR5K3	403277	broad.mit.edu	37	3	98110266	98110266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:98110266C>A	ENST00000383695.1	+	1	757	c.757C>A	c.(757-759)Ctt>Att	p.L253I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L253I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGATTCCCTTCTCTTCAT	0.353000													37	181					4.14481e-20	6.33819e-20	0.086207	1	0
TCF7L2	6934	broad.mit.edu	37	10	114918424	114918424	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:114918424A>T	ENST00000355995.4	+	13	1825		c.e13-1		TCF7L2_ENST00000542695.1_Splice_Site|TCF7L2_ENST00000369397.4_Splice_Site|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000534894.1_Splice_Site|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000352065.5_Splice_Site|TCF7L2_ENST00000538897.1_Splice_Site|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000545257.1_Splice_Site			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTTTTTTTTCAGAACACAGCG	0.353000			T	VTI1A	colorectal								11	119					0	0	0.080935	0	0
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:51143400G>T	ENST00000414786.2	+	16	2090	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G	SHANK3_ENST00000445220.2_Silent_p.G636G|SHANK3_ENST00000262795.3_Silent_p.G651G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	651								p.G651G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGAACGGGGTGAACGTGG	0.632000													39	120					8.01111e-26	1.3116e-25	0.117977	1	0
PTK7	5754	broad.mit.edu	37	6	43096872	43096872	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:43096872C>T	ENST00000230419.4	+	2	458	c.237C>T	c.(235-237)ttC>ttT	p.F79F	PTK7_ENST00000349241.2_Silent_p.F79F|PTK7_ENST00000352931.2_Silent_p.F79F|PTK7_ENST00000481273.1_Silent_p.F87F|PTK7_ENST00000345201.2_Silent_p.F79F|PTK7_ENST00000476760.1_Silent_p.F79F|PTK7_ENST00000471863.1_Silent_p.F79F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	79	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCGGCGTTTCGCCCAGGGCA	0.662000													5	74					0	0	0.058154	0	0
PUM2	23369	broad.mit.edu	37	2	20482749	20482749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:20482749C>T	ENST00000361078.2	-	11	1701	c.1679G>A	c.(1678-1680)gGt>gAt	p.G560D	PUM2_ENST00000319801.5_Missense_Mutation_p.G560D|PUM2_ENST00000536417.1_Missense_Mutation_p.G504D|PUM2_ENST00000338086.5_Missense_Mutation_p.G560D|PUM2_ENST00000403432.1_Missense_Mutation_p.G560D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	560	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.G560D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATAGCAGCACCCAAAGAGTT	0.428000													27	95					0	0	0.144211	0	0
LILRB1	10859	broad.mit.edu	37	19	55146212	55146212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:55146212C>A	ENST00000396331.1	+	11	1838	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S495*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S544*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S478*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S494*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S478*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S495*|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	494					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S494*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACTGGACATCGAGTGAGTAG	0.577000										HNSCC(37;0.09)			57	157					1.64573e-32	2.92926e-32	0.139131	1	0
PHLDA1	22822	broad.mit.edu	37	12	76424788	76424788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:76424788C>A	ENST00000266671.5	-	1	2924	c.734G>T	c.(733-735)cGc>cTc	p.R245L	PHLDA1_ENST00000602540.1_Missense_Mutation_p.R104L|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	245	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.R245L(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTTGCCCTTGCGCTCCACACA	0.612000													59	70					9.59835e-30	1.65465e-29	0.139131	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121623757	121623757	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:121623757C>G	ENST00000393386.2	+	7	1069	c.658C>G	c.(658-660)Ctt>Gtt	p.L220V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L220V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	220	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.L220V(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTGAACCTTCTGCCAAA	0.393000													116	223					0	0	0.139131	0	0
TKTL2	84076	broad.mit.edu	37	4	164393898	164393898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:164393898G>T	ENST00000280605.3	-	1	1149	c.989C>A	c.(988-990)gCt>gAt	p.A330D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	330						cytoplasm	metal ion binding|transketolase activity	p.A330D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				gcccagtttagccagagccaa	0.428000													84	279					3.71514e-35	6.73194e-35	0.139131	1	0
SZT2	23334	broad.mit.edu	37	1	43909130	43909130	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:43909130T>C	ENST00000562955.1	+	60	8436	c.8436T>C	c.(8434-8436)tcT>tcC	p.S2812S	SZT2_ENST00000372442.1_Silent_p.S1970S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2869						peroxisome		p.S1970S(4)|p.S2812S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGAGACCTCTGGACCCCCTG	0.612000													15	70					0	0	0.119110	0	0
RTEL1	51750	broad.mit.edu	37	20	62312042	62312042	+	Silent	SNP	C	C	T	rs141241780		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:62312042C>T	ENST00000318100.4	+	14	1988	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A	RTEL1_ENST00000508582.2_Silent_p.A411A|RTEL1_ENST00000360203.5_Silent_p.A387A|RTEL1_ENST00000370018.3_Silent_p.A387A|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A387A			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	387					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.A387A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAACACGGCCGGACTGCAGA	0.662000													37	180					0	0	0.139131	0	0
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	C	A	rs142051051	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:57876663C>A	ENST00000311585.7	+	2	621	c.251C>A	c.(250-252)gCg>gAg	p.A84E	EDN3_ENST00000395654.3_Missense_Mutation_p.A84E|EDN3_ENST00000371025.3_Missense_Mutation_p.A84E|EDN3_ENST00000337938.2_Missense_Mutation_p.A84E|EDN3_ENST00000371028.2_Missense_Mutation_p.A84E	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	84					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662000													15	129					4.7546e-09	5.68947e-09	0.146539	1	0
PKNOX2	63876	broad.mit.edu	37	11	125299921	125299921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:125299921C>A	ENST00000298282.9	+	12	1347	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.A295D	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	359						nucleus	sequence-specific DNA binding transcription factor activity	p.A359D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGATCCTGCCCCCAAAGCC	0.607000													43	400					3.86236e-30	6.6774e-30	0.139131	1	0
CTNND2	1501	broad.mit.edu	37	5	11346694	11346694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:11346694C>A	ENST00000304623.8	-	9	1607	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V	CTNND2_ENST00000503622.1_Missense_Mutation_p.G136V|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G40V|CTNND2_ENST00000511377.1_Missense_Mutation_p.G382V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.G473V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCTGGCTGCCTGTGCGCTG	0.617000													33	94					1.45844e-13	1.93761e-13	0.173368	1	0
RUVBL1	8607	broad.mit.edu	37	3	127842427	127842427	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:127842427C>A	ENST00000322623.5	-	1	240	c.141_splice	c.e1+1	p.E47_splice	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Splice_Site_p.E47_splice	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	47					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.E47D(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGGCCACACCTCTCGCGCGT	0.706000													14	39					1.5842e-08	1.87521e-08	0.105934	1	0
TTN	7273	broad.mit.edu	37	2	179641380	179641380	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179641380C>G	ENST00000589042.1	-	28	5435	c.5211G>C	c.(5209-5211)gaG>gaC	p.E1737D	TTN_ENST00000360870.5_Missense_Mutation_p.E1737D|TTN_ENST00000342992.6_Missense_Mutation_p.E1737D|TTN_ENST00000460472.2_Missense_Mutation_p.E1691D|TTN_ENST00000591111.1_Missense_Mutation_p.E1737D|TTN_ENST00000359218.5_Missense_Mutation_p.E1691D|TTN_ENST00000342175.6_Missense_Mutation_p.E1691D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1489	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGAGCCACTCCACCACCA	0.473000													5	114					0	0	0.184627	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159297	18159297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:18159297G>A	ENST00000396275.2	+	3	909	c.548G>A	c.(547-549)tGg>tAg	p.W183*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W183*(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACAATCGCGTGGCTGGTTTTT	0.512000													27	144					0	0	0.099896	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266036	89266036	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:89266036G>T	ENST00000464162.1	-	0	124																											ATGCAGACAGGGAGGATGGAG	0.468000													92	282					4.5313e-69	8.92192e-69	0.139131	1	0
BRAF	673	broad.mit.edu	37	7	140476865	140476865	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:140476865A>G	ENST00000288602.6	-	13	1601	c.1541T>C	c.(1540-1542)cTa>cCa	p.L514P		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	514	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATGAAGAGTAGGATATTCAC	0.398000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	148					0	0	0.184627	0	0
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:220752848G>A	ENST00000366918.4	+	2	801	c.204G>A	c.(202-204)aaG>aaA	p.K68K	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366917.4_Silent_p.K68K|MARK1_ENST00000472121.1_3'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.K68K(2)|p.K68N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAATAGGGAAGGGAAATTTTG	0.433000													18	131					0	0	0.189662	0	0
PRR12	57479	broad.mit.edu	37	19	50099833	50099833	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:50099833C>T	ENST00000418929.2	+	4	2253	c.2241C>T	c.(2239-2241)gtC>gtT	p.V747V		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	465							DNA binding	p.V747V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTCTGTTGTCCACTACGGGG	0.692000													5	5					0	0	0.021553	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767848	54767848	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:54767848G>C	ENST00000546970.1	-	5	559	c.270C>G	c.(268-270)acC>acG	p.T90T	ZNF385A_ENST00000551109.1_Silent_p.T90T|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000338010.5_Silent_p.T110T|ZNF385A_ENST00000352268.6_Silent_p.T110T|ZNF385A_ENST00000394313.2_Silent_p.T90T|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Silent_p.T90T			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.T90T(4)|p.T110T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCTGCCTCTGGTCTTGGCAG	0.597000													46	41					0	0	0.139131	0	0
LAMC3	10319	broad.mit.edu	37	9	133914297	133914297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:133914297G>T	ENST00000361069.4	+	5	1156	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	341	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity	p.E341D(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGATCGGGAGCTCTTCCGCA	0.617000													16	154					1.96292e-10	2.41853e-10	0.055883	1	0
CSMD2	114784	broad.mit.edu	37	1	34006151	34006151	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:34006151C>A	ENST00000373381.4	-	60	9781	c.9605G>T	c.(9604-9606)tGg>tTg	p.W3202L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3178	Sushi 26.					integral to membrane|plasma membrane	protein binding	p.W3058L(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCGGTCCAGGACCCATT	0.577000													23	197					2.39556e-15	3.31038e-15	0.076483	1	0
PHF14	9678	broad.mit.edu	37	7	11068427	11068427	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:11068427A>T	ENST00000403050.3	+	7	1889	c.1437A>T	c.(1435-1437)tcA>tcT	p.S479S	PHF14_ENST00000445996.2_Silent_p.S194S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	479							zinc ion binding	p.S479S(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCTGCTTTCAGAGGCAGCGG	0.433000													22	141					0	0	0.108266	0	0
C10orf82	143379	broad.mit.edu	37	10	118425181	118425181	+	Missense_Mutation	SNP	G	G	T	rs138140121	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:118425181G>T	ENST00000369210.3	-	3	266	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	C10orf82_ENST00000588184.1_Missense_Mutation_p.S71Y	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	71								p.S71Y(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CGTCTCCTCGGAGTTGACAGG	0.567000													46	62					6.3008e-33	1.12648e-32	0.139131	1	0
OR13C2	392376	broad.mit.edu	37	9	107367610	107367610	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107367610T>A	ENST00000542196.1	-	1	341	c.299A>T	c.(298-300)cAg>cTg	p.Q100L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAGGAACATCTGCACTGCACA	0.522000													23	156					0	0	0.098360	0	0
TXNDC12	51060	broad.mit.edu	37	1	52486661	52486661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:52486661G>A	ENST00000371626.4	-	7	1537	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	0	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.Q155*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGCCTTTCCTGAGCTTCCTTC	0.383000													18	104					0	0	0.069288	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600081	58600081	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:58600081C>A	ENST00000240727.6	-	3	926	c.527G>T	c.(526-528)gGg>gTg	p.G176V	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.G176V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.G41V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.G232V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	176					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G176V(1)|p.G232V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGGATCTCCCCAGCTCCAAG	0.637000													31	61					6.21074e-16	8.66197e-16	0.124865	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51630332	51630332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51630332G>T	ENST00000440804.3	+	4	861	c.794G>T	c.(793-795)gGc>gTc	p.G265V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G265V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	265	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.G265V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCCCAGAGGGCCAGTCTCTG	0.542000													61	155					1.26778e-28	2.15469e-28	0.139131	1	0
YARS2	51067	broad.mit.edu	37	12	32908775	32908775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:32908775C>A	ENST00000324868.8	-	1	61	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	12					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	p.G12C(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GACCACCGGCCCCAGGAAAAG	0.612000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	60					1.91693e-13	2.53556e-13	0.139131	1	0
CD244	51744	broad.mit.edu	37	1	160808305	160808305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160808305G>T	ENST00000368034.4	-	5	947	c.770C>A	c.(769-771)aCc>aAc	p.T257N	CD244_ENST00000368032.2_Missense_Mutation_p.T257N|CD244_ENST00000322302.7_Missense_Mutation_p.T165N|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368033.3_Missense_Mutation_p.T262N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	262					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.T257N(2)|p.T262N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTGGGACTGGTCTCTGAGGG	0.488000													38	195					3.38236e-24	5.42708e-24	0.092188	1	0
ULK4	54986	broad.mit.edu	37	3	41860964	41860964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:41860964G>T	ENST00000301831.4	-	19	2261	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	600							ATP binding|protein serine/threonine kinase activity	p.A600D(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAGGGAACAGCCCAGCACTC	0.438000													15	158					5.3912e-06	6.00407e-06	0.175082	1	0
PAK7	57144	broad.mit.edu	37	20	9624772	9624772	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:9624772C>A	ENST00000378429.3	-	4	751		c.e4+1		PAK7_ENST00000353224.5_Splice_Site|PAK7_ENST00000378423.1_Splice_Site	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7								ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTCACCATACCTTCATAGGA	0.488000													6	84					0.0215528	0.0219908	0.021553	1	0
BAGE2	85319	broad.mit.edu	37	21	11058324	11058324	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:11058324C>T	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGCACATCGCTGAAAGGGGT	0.383000													6	323					0	0	0.021553	0	0
GALNT3	2591	broad.mit.edu	37	2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	545	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383000													7	192					0	0	0.047766	0	0
IGSF10	285313	broad.mit.edu	37	3	151164627	151164627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151164627C>A	ENST00000282466.3	-	4	3141	c.3142G>T	c.(3142-3144)Gaa>Taa	p.E1048*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1048					cell differentiation|multicellular organismal development|ossification	extracellular region		p.E1048*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCTTTTTTCAGAAGAACCT	0.493000													82	152					2.9778e-19	4.45192e-19	0.139131	1	0
SEC31A	22872	broad.mit.edu	37	4	83740390	83740390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:83740390G>T	ENST00000432794.1	-	28	3702	c.3539C>A	c.(3538-3540)aCc>aAc	p.T1180N	SEC31A_ENST00000311785.7_Missense_Mutation_p.T1053N|SEC31A_ENST00000505472.1_Missense_Mutation_p.T1198N|SEC31A_ENST00000505984.1_Missense_Mutation_p.T1113N|SEC31A_ENST00000443462.2_Missense_Mutation_p.T1147N|SEC31A_ENST00000264405.5_Missense_Mutation_p.T916N|SEC31A_ENST00000326950.5_Missense_Mutation_p.T1128N|SEC31A_ENST00000508502.1_Missense_Mutation_p.T1152N|SEC31A_ENST00000348405.4_Missense_Mutation_p.T1128N|SEC31A_ENST00000509142.1_Missense_Mutation_p.T1053N|SEC31A_ENST00000448323.1_Missense_Mutation_p.T1167N|SEC31A_ENST00000500777.2_Missense_Mutation_p.T1014N|SEC31A_ENST00000513858.1_Missense_Mutation_p.T1014N|SEC31A_ENST00000355196.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000395310.2_Missense_Mutation_p.T1167N			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1167					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.T1167N(2)|p.T1180N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TAAACCACTGGTGATTGTTGG	0.393000													23	94					6.21321e-17	8.86026e-17	0.076483	1	0
HOXA3	3200	broad.mit.edu	37	7	27147954	27147954	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27147954G>T	ENST00000396352.4	-	3	1111	c.912C>A	c.(910-912)acC>acA	p.T304T	HOXA3_ENST00000317201.2_Silent_p.T304T|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	304					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T304T(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCAGCCCGTAGGTACCCTGGG	0.716000													13	32					5.50884e-06	6.12941e-06	0.093190	1	0
CXCR4	7852	broad.mit.edu	37	2	136872509	136872509	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:136872509G>C	ENST00000409817.1	-	1	1304	c.1001C>G	c.(1000-1002)tCc>tGc	p.S334C	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.S330C	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	330					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CTTTCCTTTGGAGAGGATCTT	0.463000													13	768					0	0	0.105934	0	0
LGI3	203190	broad.mit.edu	37	8	22005801	22005801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:22005801C>A	ENST00000306317.2	-	8	1808	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.E483*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	507					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.E507*(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACAGCCAGCTCCTGGAACCGT	0.612000													13	42					1.5739e-10	1.94717e-10	0.146539	1	0
EBF2	64641	broad.mit.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:25744284C>G	ENST00000520164.1	-	10	1533	c.996G>C	c.(994-996)agG>agC	p.R332S	EBF2_ENST00000408929.3_Missense_Mutation_p.R184S|EBF2_ENST00000535548.1_Missense_Mutation_p.R63S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.R332S(5)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAAATGAACCTTCCTGGGG	0.483000													22	106					0	0	0.069288	0	0
ASPM	259266	broad.mit.edu	37	1	197070066	197070066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:197070066T>C	ENST00000367409.4	-	18	8571	c.8315A>G	c.(8314-8316)cAa>cGa	p.Q2772R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2772					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2772R(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGTGCAGATTGGTTAACAAT	0.383000													33	234					0	0	0.203993	0	0
GSTM5	2949	broad.mit.edu	37	1	110257934	110257934	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:110257934C>A	ENST00000369813.1	+	5	1421	c.516C>A	c.(514-516)tcC>tcA	p.S172S	GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTTCCCAGTCCTGGAGCTACA	0.458000													11	66					0.00829132	0.0085613	0.069234	1	0
SMARCA4	6597	broad.mit.edu	37	19	11145653	11145653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:11145653G>T	ENST00000358026.2	+	29	4299	c.4015G>T	c.(4015-4017)Gag>Tag	p.E1339*	SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1339*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E1339*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1306*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1339					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E1339*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGCCTCATGGAGGAGGACGA	0.677000			"""F, N, Mis"""		NSCLC								7	10					2.0095e-06	2.25881e-06	0.029380	1	0
AMPD2	271	broad.mit.edu	37	1	110168960	110168960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:110168960G>T	ENST00000256578.3	+	5	964	c.604G>T	c.(604-606)Gag>Tag	p.E202*	AMPD2_ENST00000393688.3_Nonsense_Mutation_p.E83*|AMPD2_ENST00000528667.1_Nonsense_Mutation_p.E202*|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.E84*|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Nonsense_Mutation_p.E121*|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.E127*	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	202					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E202*(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAACAGGGTGAGGGGCAGGG	0.637000													10	58					2.80697e-09	3.37565e-09	0.080935	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356183	22356183	+	RNA	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22356183G>C	ENST00000390437.2	+	0	147																											TGTGGCTTCAGTTGAGCTGTG	0.363000													11	37					0	0	0.093190	0	0
GPR98	84059	broad.mit.edu	37	5	89986703	89986703	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:89986703G>T	ENST00000405460.2	+	31	6892	c.6796G>T	c.(6796-6798)Ggc>Tgc	p.G2266C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2266					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G2266C(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGACACTCGGCAATGTTAC	0.458000													14	46					1.49906e-05	1.64965e-05	0.119110	1	0
NETO1	81832	broad.mit.edu	37	18	70423369	70423369	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:70423369G>T	ENST00000327305.6	-	8	1539	c.882C>A	c.(880-882)ggC>ggA	p.G294G	NETO1_ENST00000299430.2_Silent_p.G293G|NETO1_ENST00000583169.1_Silent_p.G294G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	294	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G294G(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATGTGTTGCCTTCACAAG	0.343000													32	99					9.65021e-13	1.25986e-12	0.153744	1	0
NBAS	51594	broad.mit.edu	37	2	15417226	15417226	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:15417226C>A	ENST00000281513.5	-	43	5164		c.e43-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence									p.?(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTGGACAAACTGAAATTAAG	0.358000													21	52					3.01185e-09	3.61842e-09	0.091800	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:40702836C>T	ENST00000356699.5	+	4	522	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L165L(4)|p.L165M(2)									TCCTCAGGATCTGGCCTCCAC	0.587000													86	383					0	0	0.139131	0	0
APOB	338	broad.mit.edu	37	2	21245902	21245902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:21245902G>T	ENST00000233242.1	-	18	2744	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	873					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L873M(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGCCACCAGTTCAGCCTGC	0.473000													19	128					3.85864e-22	5.98412e-22	0.076483	1	0
COBL	23242	broad.mit.edu	37	7	51096651	51096651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:51096651C>A	ENST00000395542.2	-	12	2572	c.2388G>T	c.(2386-2388)aaG>aaT	p.K796N	COBL_ENST00000265136.7_Missense_Mutation_p.K714N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	714								p.K714N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCATCTCTGACTTTGGAGGAA	0.522000													46	100					2.64894e-19	3.96519e-19	0.139131	1	0
ITGA2B	3674	broad.mit.edu	37	17	42455747	42455747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:42455747C>A	ENST00000262407.5	-	20	2108	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A693S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	693					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A693S(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTGCTTAGGGCCCGCATGTAG	0.647000													10	28					0.000978159	0.00103032	0.080935	1	0
MX2	4600	broad.mit.edu	37	21	42771258	42771258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:42771258C>T	ENST00000330714.3	+	10	1592	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	470					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.Q470*(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACTAATACCCAAAAAGGTAA	0.443000													20	117					0	0	0.204396	0	0
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612000													5	106					0	0	0.021553	0	0
CIC	23152	broad.mit.edu	37	19	42794026	42794026	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:42794026A>G	ENST00000572681.2	+	10	4182	c.4114A>G	c.(4114-4116)Att>Gtt	p.I1372V	CIC_ENST00000575354.2_Missense_Mutation_p.I463V|CIC_ENST00000160740.3_Missense_Mutation_p.I463V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I463V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCACTGACATTGATCTCAA	0.617000			"""Mis, F, S"""		oligodendroglioma								5	13					0	0	0.021553	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:77745831G>A	ENST00000409088.3	-	3	1578	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	LRRTM4_ENST00000409282.1_Silent_p.T389T|LRRTM4_ENST00000409911.1_Silent_p.T389T|LRRTM4_ENST00000409093.1_Silent_p.T388T|LRRTM4_ENST00000409884.1_Silent_p.T388T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388						integral to membrane		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473000													20	74					0	0	0.076483	0	0
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:31810643C>T	ENST00000446923.2	+	7	2723	c.2332C>T	c.(2332-2334)Cca>Tca	p.P778S	ZEB1_ENST00000320985.10_Missense_Mutation_p.P794S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P774S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P795S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P727S|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	794					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P794S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGTAATCCCACCAAGTGC	0.453000													34	111					0	0	0.183431	0	0
NIPAL3	57185	broad.mit.edu	37	1	24785406	24785406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24785406G>T	ENST00000003912.3	+	10	1271	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	NIPAL3_ENST00000374399.4_Missense_Mutation_p.D268Y|NIPAL3_ENST00000339255.2_Missense_Mutation_p.D268Y			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	268						integral to membrane		p.D268Y(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						ACAGATGTACGACTCCTCTTT	0.468000													38	112					4.01765e-15	5.51398e-15	0.111260	1	0
C2orf16	84226	broad.mit.edu	37	2	27803275	27803275	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:27803275G>C	ENST00000408964.2	+	1	3887	c.3836G>C	c.(3835-3837)aGa>aCa	p.R1279T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1279										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCTAAAGTGAGAACCAAAAAG	0.398000													5	204					0	0	0.184627	0	0
OR14A16	284532	broad.mit.edu	37	1	247978554	247978554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247978554C>A	ENST00000357627.1	-	1	477	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160C(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAGAAGGTGCCAGCTGTGTGC	0.473000													57	216					2.23044e-30	3.86716e-30	0.139131	1	0
CYP4F3	4051	broad.mit.edu	37	19	15759996	15759996	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:15759996G>T	ENST00000221307.7	+	6	600	c.552G>T	c.(550-552)gaG>gaT	p.E184D	CYP4F3_ENST00000586182.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.E184D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	184				EGS -> KGY (in Ref. 3; AAC08589).	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.E184D(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCTCAGAGGGTAGTGCCC	0.557000													18	58					1.2644e-06	1.42928e-06	0.055883	1	0
TNC	3371	broad.mit.edu	37	9	117826978	117826978	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117826978A>C	ENST00000350763.4	-	11	3846	c.3435T>G	c.(3433-3435)taT>taG	p.Y1145*	TNC_ENST00000341037.4_Nonsense_Mutation_p.Y1145*|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Nonsense_Mutation_p.Y1145*|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1145	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.Y1145*(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCACCCCATAGATGGAGA	0.537000													43	401					0	0	0.131918	0	0
USH2A	7399	broad.mit.edu	37	1	216496873	216496873	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:216496873G>T	ENST00000366943.2	-	8	1879	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	USH2A_ENST00000366942.3_Missense_Mutation_p.T498N|USH2A_ENST00000307340.3_Missense_Mutation_p.T498N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	498	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T498N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTAACAGCAGTCTCAGTTGT	0.368000										HNSCC(13;0.011)			80	223					9.10118e-52	1.74911e-51	0.139131	1	0
KCNK6	9424	broad.mit.edu	37	19	38817394	38817394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:38817394G>T	ENST00000263372.3	+	2	591	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	162						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.G162C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CATGCGTTGGGGCTGGGACCC	0.677000													14	67					9.31168e-06	1.03225e-05	0.105934	1	0
DUSP15	128853	broad.mit.edu	37	20	30454916	30454916	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:30454916T>A	ENST00000278979.3	-	3	163	c.87A>T	c.(85-87)acA>acT	p.T29T	DUSP15_ENST00000375966.4_Silent_p.T29T|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000339738.5_Silent_p.T32T|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	29						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T32T(1)|p.T29T(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGATGATGTGTGTGATCTTAT	0.547000													4	12					0	0	0.150653	0	0
CHST2	9435	broad.mit.edu	37	3	142840553	142840553	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:142840553C>G	ENST00000309575.3	+	2	2279	c.895C>G	c.(895-897)Cgc>Ggc	p.R299G		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	299					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.R299G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCAAGTACCGCACACTAGT	0.652000													7	11					0	0	0.047766	0	0
KDM3A	55818	broad.mit.edu	37	2	86718115	86718115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:86718115C>T	ENST00000409556.1	+	25	4050	c.3685C>T	c.(3685-3687)Caa>Taa	p.Q1229*	KDM3A_ENST00000409064.1_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000542128.1_Nonsense_Mutation_p.Q1177*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1229	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q1229*(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTATGGAGTTCAAGGCTGGGC	0.423000													33	216					0	0	0.203993	0	0
ILF3	3609	broad.mit.edu	37	19	10793909	10793909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:10793909G>C	ENST00000449870.1	+	14	1974	c.1657G>C	c.(1657-1659)Ggc>Cgc	p.G553R	ILF3_ENST00000590261.1_Missense_Mutation_p.G549R|ILF3_ENST00000588657.1_Missense_Mutation_p.G553R|ILF3_ENST00000250241.8_Missense_Mutation_p.G549R|ILF3_ENST00000589998.1_Missense_Mutation_p.G549R|ILF3_ENST00000420083.1_Missense_Mutation_p.G549R|ILF3_ENST00000407004.3_Missense_Mutation_p.G553R|ILF3_ENST00000318511.3_Missense_Mutation_p.G549R|ILF3_ENST00000592763.1_Missense_Mutation_p.G553R	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	549	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.G549R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGAGACCGGGGGCAGCCACGA	0.652000													20	47					0	0	0.108266	0	0
ELTD1	64123	broad.mit.edu	37	1	79402013	79402013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:79402013A>T	ENST00000370742.3	-	7	907	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	282					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F282I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTCTTTGGAAATATATTTATG	0.279000													28	212					0	0	0.144211	0	0
OR2T1	26696	broad.mit.edu	37	1	248569631	248569631	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248569631C>G	ENST00000366474.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCCTCCTCAGCCACC	0.438000													20	382					0	0	0.055883	0	0
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378000													30	83					0	0	0.163468	0	0
SQSTM1	8878	broad.mit.edu	37	5	179250885	179250885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:179250885G>T	ENST00000389805.4	+	3	507	c.329G>T	c.(328-330)cGc>cTc	p.R110L	SQSTM1_ENST00000510187.1_Missense_Mutation_p.R110L|SQSTM1_ENST00000402874.3_Missense_Mutation_p.R26L|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R26L|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R26L	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	110					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	p.R110L(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGACCACCGCCCACCGTGT	0.622000													30	90					1.62565e-12	2.09958e-12	0.163468	1	0
BPIFB1	92747	broad.mit.edu	37	20	31873972	31873972	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:31873972C>T	ENST00000253354.1	+	2	254	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	31						extracellular space	lipid binding	p.L31L(2)									TTCTCATCCTCGGCCCAAAAG	0.567000													28	134					0	0	0.125774	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757446	75757446	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:75757446G>T	ENST00000274364.6	+	2	395	c.98G>T	c.(97-99)cGg>cTg	p.R33L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	33					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.R33L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGAGGAGGCGGCAGAACATT	0.423000													31	178					1.36161e-19	2.06124e-19	0.203993	1	0
POLDIP3	84271	broad.mit.edu	37	22	42981234	42981234	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:42981234C>T	ENST00000339677.6	-	3	538	c.539G>A	c.(538-540)aGt>aAt	p.S180N	POLDIP3_ENST00000348657.2_3'UTR|POLDIP3_ENST00000252115.5_3'UTR			Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	0					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	p.S180N(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCTGGAGCCACTGGGGAGAGG	0.632000													5	30					0	0	0.184627	0	0
HDAC4	9759	broad.mit.edu	37	2	240066294	240066294	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:240066294G>A	ENST00000345617.3	-	8	1641	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.P253S|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	284	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P284S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACATCCAACGGACGCTTTTTT	0.577000													41	98					0	0	0.139131	0	0
SOX7	83595	broad.mit.edu	37	8	10690446	10690446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:10690446C>A	ENST00000554914.1	-	3	268	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	PINX1_ENST00000520018.2_5'UTR|SOX7_ENST00000553390.1_Missense_Mutation_p.V60L|PINX1_ENST00000314787.3_Missense_Mutation_p.V60L|PINX1_ENST00000519088.1_Missense_Mutation_p.V60L|PINX1_ENST00000426190.2_Missense_Mutation_p.V58L			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	0					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.V60L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TTATTTTTCACTTGAACTTTA	0.448000													5	17					0.00198382	0.00206612	0.029380	1	0
MUC2	4583	broad.mit.edu	37	11	1077683	1077683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:1077683C>A	ENST00000441003.2	+	3	460	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	MUC2_ENST00000359061.5_Missense_Mutation_p.L145I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	145	VWFD 1.					inner mucus layer|outer mucus layer	protein binding	p.L145I(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGGCCTCACCCTCATGTGGAA	0.667000													10	25					0.0692343	0.070225	0.069234	1	0
TMC6	11322	broad.mit.edu	37	17	76113395	76113395	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:76113395C>A	ENST00000590602.1	-	18	2391	c.2232G>T	c.(2230-2232)cgG>cgT	p.R744R	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Silent_p.R744R|TMC6_ENST00000322933.4_Silent_p.R323R|TMC6_ENST00000392467.3_Silent_p.R744R|TMC6_ENST00000591436.1_Silent_p.R323R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744						endoplasmic reticulum membrane|integral to membrane		p.R744R(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCGCTGGCCCCGCACCACCT	0.682000													39	149					2.40579e-17	3.45528e-17	0.086207	1	0
BRD8	10902	broad.mit.edu	37	5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:137476521C>T	ENST00000254900.5	-	26	3859	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1163	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R1163H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443000													9	624					0	0	0.093190	0	0
NBAS	51594	broad.mit.edu	37	2	15468435	15468435	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:15468435C>A	ENST00000281513.5	-	37	4374	c.4347_splice	c.e37-1	p.G1450_splice	NBAS_ENST00000441750.1_Splice_Site_p.G1330_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450								p.G1450V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACATTTTTGCCCCTaaaaaga	0.388000													34	218					3.90053e-15	5.35933e-15	0.163468	1	0
SERPINB12	89777	broad.mit.edu	37	18	61231212	61231212	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:61231212T>A	ENST00000382768.1	+	5	564	c.562_splice	c.e5-1	p.G188_splice	SERPINB12_ENST00000269491.1_Splice_Site_p.G168_splice			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	168					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTTTTAGGTAAAATCAAGG	0.353000													13	190					0	0	0.105934	0	0
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160811267C>A	ENST00000368034.4	-	3	565	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CD244_ENST00000368032.2_Nonsense_Mutation_p.E130*|CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Nonsense_Mutation_p.E135*	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	135				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015).	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.E130*(2)|p.E135*(2)|p.E130Q(1)|p.E135Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGGGTTTCTCAACTTTATCT	0.507000													43	120					2.59497e-14	3.50554e-14	0.098360	1	0
ASB15	142685	broad.mit.edu	37	7	123257663	123257663	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:123257663C>A	ENST00000451558.1	+	9	844	c.323C>A	c.(322-324)aCc>aAc	p.T108N	ASB15_ENST00000540573.1_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.T108N|ASB15_ENST00000275699.3_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAATTCAAGACCTGTGATGGA	0.383000													65	151					6.20995e-33	1.11189e-32	0.139131	1	0
VWA5A	4013	broad.mit.edu	37	11	124007382	124007382	+	Splice_Site	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:124007382G>C	ENST00000456829.2	+	14	1876		c.e14+1		VWA5A_ENST00000392748.1_Splice_Site|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A									p.?(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGATGTCAAGTGAGAATTCA	0.488000													20	194					0	0	0.055883	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914385	51914385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51914385G>A	ENST00000353836.5	-	10	1998	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q630*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q503*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q445*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q535*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q510*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q545*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	688					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Q688*(2)|p.Q630*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAATCCGCCTGGGTGCCCTTG	0.562000													53	108					0	0	0.139131	0	0
GABRR1	2569	broad.mit.edu	37	6	89895078	89895078	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:89895078G>A	ENST00000435811.1	-	6	1150	c.696C>T	c.(694-696)ctC>ctT	p.L232L	GABRR1_ENST00000369451.3_Silent_p.L162L|GABRR1_ENST00000454853.2_Silent_p.L249L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	249					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L243L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATTCCTGAATGAGGAACTGGG	0.488000													17	255					0	0	0.160694	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963931	88963931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:88963931G>T	ENST00000333190.4	+	4	2244	c.1635G>T	c.(1633-1635)tgG>tgT	p.W545C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	545						intracellular	zinc ion binding	p.W545C(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCGGATTGGGAAAAATTCC	0.353000										HNSCC(36;0.09)			43	101					1.00001e-27	1.68297e-27	0.111260	1	0
AHNAK	79026	broad.mit.edu	37	11	62293287	62293287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62293287C>A	ENST00000378024.4	-	5	8876	c.8602G>T	c.(8602-8604)Gaa>Taa	p.E2868*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2868					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCAACTTCAGGACCTTTC	0.463000													9	354					2.17888e-05	2.39339e-05	0.058154	1	0
ATP1A3	478	broad.mit.edu	37	19	42471882	42471882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:42471882C>A	ENST00000545399.1	-	21	3045	c.2892G>T	c.(2890-2892)gaG>gaT	p.E964D	ATP1A3_ENST00000302102.5_Missense_Mutation_p.E951D|ATP1A3_ENST00000602133.1_Missense_Mutation_p.E921D|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E962D	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	951					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E951D(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGCCGTCTCCTCAAACA	0.667000													15	29					3.32936e-07	3.79913e-07	0.175082	1	0
B3GNT7	93010	broad.mit.edu	37	2	232262811	232262811	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:232262811G>C	ENST00000287590.5	+	2	642	c.381G>C	c.(379-381)ccG>ccC	p.P127P	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	127					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.P127P(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGAACCACCCGGAGAAGTGCA	0.647000													10	21					0	0	0.204396	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			168	366					0	0	0.139131	0	0
IGKV3D-15	28875	broad.mit.edu	37	2	90154121	90154121	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:90154121G>T	ENST00000417279.2	+	0	257																											CCTCATCTATGGTGCATCCAC	0.582000													26	75					2.19489e-29	3.76222e-29	0.086207	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734882	176734882	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:176734882C>G	ENST00000367662.3	+	15	5396	c.4232C>G	c.(4231-4233)tCt>tGt	p.S1411C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1411	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1411C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACTGTACCTCTATAGGCCCA	0.517000													8	371					0	0	0.038147	0	0
MMP9	4318	broad.mit.edu	37	20	44637627	44637627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:44637627C>T	ENST00000372330.3	+	1	81	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	21					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.P21L(2)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGCTGCCCCCAGACAGCGC	0.617000													17	34					0	0	0.146539	0	0
TEX13B	56156	broad.mit.edu	37	X	107225113	107225113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:107225113T>A	ENST00000302917.1	-	2	337	c.245A>T	c.(244-246)cAg>cTg	p.Q82L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	82								p.Q82L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TAACTGCCCCTGCCTGTGGGC	0.617000													84	115					0	0	0.139131	0	0
HNF4G	3174	broad.mit.edu	37	8	76472700	76472700	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:76472700C>A	ENST00000396423.2	+	9	1339	c.1216_splice	c.e9+1	p.I405_splice	HNF4G_ENST00000354370.1_Splice_Site_p.I368_splice	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	368					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.I405I(2)|p.I368I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGACCAGATCTGTAAGTTTA	0.363000													20	148					6.33239e-15	8.65139e-15	0.055883	1	0
BCAS1	8537	broad.mit.edu	37	20	52591957	52591957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:52591957C>G	ENST00000395961.3	-	8	1319	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Missense_Mutation_p.D385H	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	385						cytoplasm	protein binding	p.D385H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGACTGAGTCCTCTTTAACT	0.403000													13	93					0	0	0.132662	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715880	68715880	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:68715880A>G	ENST00000325631.5	+	2	742	c.668A>G	c.(667-669)aAc>aGc	p.N223S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.N223S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	223	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GAGTGGTACAACTTGTTTGGA	0.512000													5	224					0	0	0.184627	0	0
OR2T34	127068	broad.mit.edu	37	1	248737445	248737445	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248737445T>A	ENST00000328782.2	-	1	635	c.614A>T	c.(613-615)tAc>tTc	p.Y205F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y205F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGCACAGGTACGTGAGCAT	0.527000													75	379					0	0	0.139131	0	0
SOX5	6660	broad.mit.edu	37	12	23999036	23999036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:23999036C>A	ENST00000546136.1	-	2	325	c.323G>T	c.(322-324)gGc>gTc	p.G108V	SOX5_ENST00000451604.2_Missense_Mutation_p.G121V|SOX5_ENST00000381381.2_Missense_Mutation_p.G108V|SOX5_ENST00000541536.1_Missense_Mutation_p.G108V|SOX5_ENST00000441133.2_Missense_Mutation_p.G86V|SOX5_ENST00000541847.1_Missense_Mutation_p.G111V|SOX5_ENST00000309359.1_Missense_Mutation_p.G108V|SOX5_ENST00000545921.1_Missense_Mutation_p.G111V|SOX5_ENST00000537393.1_Missense_Mutation_p.G86V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G121V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGACTCGCCACTCTGTCG	0.498000													25	160					1.04121e-07	1.20757e-07	0.108266	1	0
CSMD3	114788	broad.mit.edu	37	8	113668510	113668510	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113668510T>A	ENST00000297405.5	-	18	3121	c.2877A>T	c.(2875-2877)tcA>tcT	p.S959S	CSMD3_ENST00000352409.3_Silent_p.S959S|CSMD3_ENST00000343508.3_Silent_p.S919S|CSMD3_ENST00000455883.2_Silent_p.S855S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	959	CUB 5.					integral to membrane|plasma membrane		p.S919S(2)|p.S959S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGCAAGGGTGACAGAAGAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	162					0	0	0.076483	0	0
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:28476668C>A	ENST00000373857.3	-	2	1499	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PTAFR_ENST00000539896.1_Missense_Mutation_p.D289Y|PTAFR_ENST00000305392.3_Missense_Mutation_p.D289Y	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.D289Y(2)|p.D289H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACAGGGTCTAAGACACAG	0.537000													43	107					5.44703e-19	8.10329e-19	0.111260	1	0
RDH16	8608	broad.mit.edu	37	12	57345827	57345827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:57345827C>A	ENST00000398138.3	-	4	1796	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	314					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.A314S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAGCCTTGGCCGGGCTTGGA	0.537000													43	62					6.68952e-21	1.02556e-20	0.131918	1	0
C1QB	713	broad.mit.edu	37	1	22986096	22986096	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:22986096C>A	ENST00000509305.1	+	2	487	c.141C>A	c.(139-141)ccC>ccA	p.P47P	C1QB_ENST00000314933.6_Silent_p.P49P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	49	Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.P49P(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTGGCCCCGATGGCCAAC	0.602000													16	38					4.7546e-09	5.68947e-09	0.146539	1	0
ABCA4	24	broad.mit.edu	37	1	94574149	94574149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:94574149G>T	ENST00000370225.3	-	4	512	c.426C>A	c.(424-426)caC>caA	p.H142Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.H142Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	142					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H142Q(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTCCGGGTGAGTCCGGA	0.498000													41	126					4.44401e-20	6.78712e-20	0.117977	1	0
C16orf3	750	broad.mit.edu	37	16	90095676	90095676	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:90095676C>T	ENST00000408886.2	-	1	633	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	25								p.K25K(1)		large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGAAGGCTTCTTCAGGGTCC	0.642000													12	154					0	0	0.132662	0	0
TIMM17B	10245	broad.mit.edu	37	X	48751400	48751400	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48751400C>A	ENST00000396779.3	-	6	597	c.449G>T	c.(448-450)gGg>gTg	p.G150V	TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Missense_Mutation_p.G100V	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	100					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.G100V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CAGCACAGCCCCGGTCAATGC	0.642000													8	11					0.000274275	0.000291962	0.047766	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432940	73432940	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:73432940C>G	ENST00000263666.4	-	10	2891	c.2777G>C	c.(2776-2778)cGc>cCc	p.R926P	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R583P|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R583P|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R643P|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R648P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	926							ubiquitin-protein ligase activity|zinc ion binding	p.R926P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGTCGCTGCGGATCTTCAC	0.667000													12	72					0	0	0.093190	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117174	109117174	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:109117174G>C	ENST00000261483.4	+	9	2504	c.1452G>C	c.(1450-1452)tcG>tcC	p.S484S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	484					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S484S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGGGCCAATCGATGTTCCCTG	0.378000													28	97					0	0	0.116897	0	0
PARP8	79668	broad.mit.edu	37	5	50091127	50091127	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:50091127G>A	ENST00000281631.5	+	12	1462	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.S435N|PARP8_ENST00000505554.1_Missense_Mutation_p.S414N|PARP8_ENST00000503750.2_Missense_Mutation_p.S435N|PARP8_ENST00000514342.2_Missense_Mutation_p.S188N|PARP8_ENST00000514067.2_Missense_Mutation_p.S435N	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	435						intracellular	NAD+ ADP-ribosyltransferase activity	p.S435N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTACTCCAGTGCCCCCAAG	0.443000													52	165					0	0	0.139131	0	0
NMUR1	10316	broad.mit.edu	37	2	232393103	232393103	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:232393103C>T	ENST00000305141.4	-	2	762	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.R210Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CACTGGGCCCCGGCAGGGCAC	0.667000													13	24					0	0	0.119110	0	0
ALPK2	115701	broad.mit.edu	37	18	56247124	56247124	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:56247124G>C	ENST00000361673.3	-	4	1097	c.884C>G	c.(883-885)cCc>cGc	p.P295R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	295							ATP binding|protein serine/threonine kinase activity	p.P295R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTGGGCTGGGTTGTTTGTT	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	131					0	0	0.132662	0	0
LMO4	8543	broad.mit.edu	37	1	87797878	87797878	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:87797878C>A	ENST00000370544.5	+	2	960	c.180C>A	c.(178-180)atC>atA	p.I60I	LMO4_ENST00000370542.1_Silent_p.I60I|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	60	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TGGGCGACATCGGCACGTCCT	0.547000													4	116					0.00909568	0.00934381	0.150653	1	0
LAMC1	3915	broad.mit.edu	37	1	183090909	183090909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:183090909G>T	ENST00000258341.4	+	12	2299	c.2042G>T	c.(2041-2043)gGa>gTa	p.G681V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	681	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.G681V(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGGCCTGGAGTCCCTGCA	0.493000													26	94					2.79863e-10	3.44118e-10	0.099896	1	0
DCUN1D1	54165	broad.mit.edu	37	3	182681763	182681763	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:182681763T>C	ENST00000292782.4	-	3	448	c.295A>G	c.(295-297)Agc>Ggc	p.S99G	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.S84G	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	99	DCUN1.					ubiquitin ligase complex	protein binding	p.S99G(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACACTAATGCTGGCTGGATCG	0.418000													18	132					0	0	0.175082	0	0
APOBR	55911	broad.mit.edu	37	16	28509228	28509228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:28509228G>T	ENST00000564831.1	+	2	2899	c.2866G>T	c.(2866-2868)Gca>Tca	p.A956S	APOBR_ENST00000431282.1_Missense_Mutation_p.A947S|APOBR_ENST00000328423.5_Missense_Mutation_p.A947S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	947	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.A947S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCAGGCCCCTGCAGAAGCTGC	0.667000													9	32					4.68919e-08	5.48058e-08	0.069234	1	0
SCRN1	9805	broad.mit.edu	37	7	29980415	29980415	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:29980415C>G	ENST00000426154.1	-	5	798	c.622G>C	c.(622-624)Gct>Cct	p.A208P	SCRN1_ENST00000242059.5_Missense_Mutation_p.A208P|SCRN1_ENST00000409497.1_Missense_Mutation_p.A208P|SCRN1_ENST00000416113.2_Intron	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	208					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A228P(2)|p.A208P(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGGCTCTGAGCGTAACTCCTG	0.527000													79	351					0	0	0.139131	0	0
LRP1B	53353	broad.mit.edu	37	2	142012141	142012141	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:142012141C>A	ENST00000389484.3	-	4	1384	c.413G>T	c.(412-414)tGt>tTt	p.C138F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	138	EGF-like 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCACAGTAACATCTTGTACT	0.323000										TSP Lung(27;0.18)			4	120					0.00116845	0.00122539	0.021553	1	0
ATP4A	495	broad.mit.edu	37	19	36044671	36044671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:36044671G>T	ENST00000262623.3	-	17	2570	c.2542C>A	c.(2542-2544)Cgc>Agc	p.R848S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.R848S(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTTGGGTTGCGTGGACGCAGG	0.607000													7	19					1.06961e-07	1.23931e-07	0.038147	1	0
HEMGN	55363	broad.mit.edu	37	9	100693342	100693342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:100693342C>A	ENST00000259456.3	-	4	478	c.335G>T	c.(334-336)gGg>gTg	p.G112V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	112					cell differentiation|multicellular organismal development			p.G112V(2)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTTATGCTCCCAGGTGGCTC	0.423000													16	154					1.52009e-12	1.9717e-12	0.132662	1	0
HOXA2	3199	broad.mit.edu	37	7	27140626	27140626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27140626G>T	ENST00000222718.5	-	2	1160	c.850C>A	c.(850-852)Ctg>Atg	p.L284M		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	284						nucleus	sequence-specific DNA binding transcription factor activity	p.L284M(2)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAATGTTTCAGATTTTTCTCA	0.498000													77	191					1.4533e-46	2.77093e-46	0.139131	1	0
GPR139	124274	broad.mit.edu	37	16	20043655	20043655	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20043655G>T	ENST00000570682.1	-	2	764	c.464C>A	c.(463-465)aCc>aAc	p.T155N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155						integral to membrane|plasma membrane		p.T155N(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGGAAGCAGGTGATGTAAAC	0.522000													39	154					3.33393e-15	4.59656e-15	0.214465	1	0
LGALS9	3965	broad.mit.edu	37	17	25967657	25967657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:25967657C>T	ENST00000395473.2	+	3	1659	c.191C>T	c.(190-192)cCt>cTt	p.P64L	AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.P64L|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.P64L|LGALS9_ENST00000302228.5_Missense_Mutation_p.P64L	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	64	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.P64L(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CACTTCAACCCTCGGTTTGAA	0.527000													67	147					0	0	0.139131	0	0
SEPT14	346288	broad.mit.edu	37	7	55929665	55929665	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:55929665G>T	ENST00000388975.3	-	2	141	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	9					cell cycle|cell division	septin complex	GTP binding|protein binding	p.P9T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGTGTGGGCATAGCCATT	0.284000													3	28					0.004672	0.00484489	0.115264	1	0
VPS13C	54832	broad.mit.edu	37	15	62264919	62264919	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:62264919T>C	ENST00000261517.5	-	27	2735	c.2662A>G	c.(2662-2664)Act>Gct	p.T888A	VPS13C_ENST00000249837.3_Missense_Mutation_p.T845A|VPS13C_ENST00000395898.3_Missense_Mutation_p.T845A|VPS13C_ENST00000395896.4_Missense_Mutation_p.T888A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	888					protein localization			p.T888A(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTTACAAGTCTGTGGTTCT	0.348000													59	106					0	0	0.139131	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316550	38316550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:38316550G>T	ENST00000450935.2	+	3	508	c.430G>T	c.(430-432)Gca>Tca	p.A144S	SLC22A13_ENST00000311856.4_Silent_p.G236G			Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	314						integral to plasma membrane	organic cation transmembrane transporter activity	p.G236G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCCCTCGGGCAGATGGTGC	0.607000													103	240					1.32035e-51	2.52945e-51	0.139131	1	0
CROT	54677	broad.mit.edu	37	7	87011391	87011391	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:87011391G>T	ENST00000331536.3	+	12	1249	c.1062_splice	c.e12-1	p.G355_splice	CROT_ENST00000419147.2_Splice_Site_p.G383_splice|CROT_ENST00000442291.1_Splice_Site_p.G355_splice	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	355					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.G355V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TATTTTCAGGGTTCAGAGAAG	0.333000													37	56					6.29468e-14	8.41853e-14	0.214465	1	0
TMEM161B	153396	broad.mit.edu	37	5	87494880	87494880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:87494880C>A	ENST00000296595.6	-	10	1126	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMEM161B_ENST00000512429.1_Silent_p.L323L|TMEM161B_ENST00000506536.1_Silent_p.L152L|TMEM161B_ENST00000511218.1_Silent_p.L125L|TMEM161B_ENST00000514135.1_Silent_p.L334L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	334						integral to membrane		p.L334L(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATAAGCTTGCAGGTGACTAC	0.423000													28	80					7.07758e-08	8.21627e-08	0.099896	1	0
LHX9	56956	broad.mit.edu	37	1	197890482	197890482	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:197890482C>A	ENST00000367390.3	+	4	426	c.399C>A	c.(397-399)gcC>gcA	p.A133A	LHX9_ENST00000561173.1_Silent_p.A148A|LHX9_ENST00000337020.2_Silent_p.A142A|LHX9_ENST00000367387.4_Silent_p.A142A|LHX9_ENST00000367391.1_Silent_p.A133A	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	142	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.A133A(2)|p.A142A(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCATTTCCGCCTCGGAGATGG	0.572000													22	136					9.57634e-11	1.18964e-10	0.083992	1	0
DSCAML1	57453	broad.mit.edu	37	11	117387251	117387251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:117387251C>A	ENST00000321322.6	-	8	1895	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E362*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	572	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E632*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACAGGTACTCCCCCTCATCC	0.612000													58	79					2.41709e-19	3.63166e-19	0.139131	1	0
VPS35	55737	broad.mit.edu	37	16	46715307	46715307	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:46715307C>G	ENST00000299138.7	-	4	363	c.305G>C	c.(304-306)gGa>gCa	p.G102A		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	102					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.G102A(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATAATGTTTCCAGCATACTG	0.378000													26	149					0	0	0.091800	0	0
INTS2	57508	broad.mit.edu	37	17	59962347	59962347	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:59962347G>A	ENST00000444766.3	-	16	2103	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	INTS2_ENST00000251334.6_Silent_p.P668P	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	676					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.P676P(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AATATGATTTGGGCTTTCTTT	0.353000													12	20					0	0	0.080935	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	126					0	0	0.150653	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617601	54617601	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:54617601A>T	ENST00000302287.3	+	4	778	c.372A>T	c.(370-372)ttA>ttT	p.L124F	VSTM2A_ENST00000404951.1_Missense_Mutation_p.L124F|VSTM2A_ENST00000407838.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.L123F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.L124F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	124	Ig-like V-type.					extracellular region		p.L124F(2)|p.L123F(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGAAGGCTTATATGAGTGCA	0.468000													13	46					0	0	0.105934	0	0
TG	7038	broad.mit.edu	37	8	133912549	133912549	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:133912549A>G	ENST00000220616.4	+	15	3438	c.3398A>G	c.(3397-3399)gAa>gGa	p.E1133G	TG_ENST00000377869.1_Missense_Mutation_p.E1133G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1133	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCATCAGGAGAAGAGTTGCGG	0.617000													6	72					0	0	0.021553	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237394	84237394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:84237394G>T	ENST00000324537.5	+	7	817	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	SH3GL3_ENST00000427482.2_Missense_Mutation_p.G101W|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G109W|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G101W			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	101	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G109W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTGAAATACGGGAAGGAGCT	0.527000													36	73					6.97489e-18	1.01507e-17	0.214465	1	0
DSCAM	1826	broad.mit.edu	37	21	41725556	41725556	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41725556C>T	ENST00000400454.1	-	5	1247	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	257	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R257H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCAGCCAGCGGTAATCTGG	0.602000													17	97					0	0	0.160694	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766770	77766770	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77766770T>C	ENST00000521891.2	+	10	8061	c.7613T>C	c.(7612-7614)aTg>aCg	p.M2538T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M2522T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCCCTACATGATATTTGAC	0.547000										HNSCC(33;0.089)			47	297					0	0	0.131918	0	0
DGKB	1607	broad.mit.edu	37	7	14216490	14216490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:14216490C>A	ENST00000403951.2	-	25	2700	c.2281G>T	c.(2281-2283)Gag>Tag	p.E761*	DGKB_ENST00000407950.1_Nonsense_Mutation_p.E753*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.E761*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.E761*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.E760*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.E761*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.E742*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	761					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.E761*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATCCATGGCTCCCCATCAATT	0.393000													127	285					6.6411e-63	1.29911e-62	0.139131	1	0
ZMYND11	10771	broad.mit.edu	37	10	294355	294355	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:294355T>C	ENST00000397962.3	+	13	1735	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	ZMYND11_ENST00000509513.2_Missense_Mutation_p.V435A|ZMYND11_ENST00000397959.3_Missense_Mutation_p.V351A|ZMYND11_ENST00000381607.4_Missense_Mutation_p.V342A|ZMYND11_ENST00000403354.1_Missense_Mutation_p.V356A|ZMYND11_ENST00000381604.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000545619.1_Missense_Mutation_p.V316A|ZMYND11_ENST00000381584.1_Missense_Mutation_p.V419A|ZMYND11_ENST00000402736.1_Missense_Mutation_p.V405A|ZMYND11_ENST00000381602.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000602682.1_Missense_Mutation_p.V351A|ZMYND11_ENST00000535374.1_Missense_Mutation_p.V231A|ZMYND11_ENST00000381591.1_Missense_Mutation_p.V436A|ZMYND11_ENST00000309776.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000558098.2_Missense_Mutation_p.V436A			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	396	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V436A(4)|p.V396A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAGTCTCCGTGTCAACTCAG	0.498000													44	101					0	0	0.104719	0	0
KATNAL1	84056	broad.mit.edu	37	13	30801606	30801606	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:30801606T>C	ENST00000380615.3	-	9	1257	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I364V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	364						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.I364V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTCATCAATGTCCCACGGG	0.378000													16	90					0	0	0.175082	0	0
ISOC1	51015	broad.mit.edu	37	5	128440942	128440942	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:128440942G>A	ENST00000173527.5	+	3	510	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	165						peroxisome	catalytic activity	p.G165E(2)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		AAAGGTCTTGGGAGCACGGTT	0.383000													32	86					0	0	0.153744	0	0
ABCA13	154664	broad.mit.edu	37	7	48452087	48452087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:48452087G>T	ENST00000435803.1	+	41	12390	c.12366G>T	c.(12364-12366)aaG>aaT	p.K4122N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4122					transport	integral to membrane	ATP binding|ATPase activity	p.K4067N(2)|p.K4122N(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGACAAGGCCTGCTTGA	0.493000													34	158					4.39465e-27	7.28411e-27	0.173368	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													4	43					0	0	0.184627	0	0
OR2G2	81470	broad.mit.edu	37	1	247752128	247752128	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247752128T>C	ENST00000320065.1	+	1	467	c.467T>C	c.(466-468)aTa>aCa	p.I156T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I156T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCAGTGGAATAGCCACCACC	0.547000													136	370					0	0	0.139131	0	0
PPM1E	22843	broad.mit.edu	37	17	57043137	57043137	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:57043137C>A	ENST00000308249.2	+	3	795	c.666C>A	c.(664-666)ctC>ctA	p.L222L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	231					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACTTCCCCCTCCGCAGGAGAC	0.453000													15	454					7.93312e-07	8.99286e-07	0.119110	1	0
FER1L6	654463	broad.mit.edu	37	8	125110055	125110055	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:125110055C>A	ENST00000522917.1	+	37	5020	c.4814C>A	c.(4813-4815)aCt>aAt	p.T1605N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T1605N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1605	C2 6.					integral to membrane		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCTGGAACACTGAAGATGTC	0.418000													65	94					3.58576e-35	6.50729e-35	0.139131	1	0
AMER2	219287	broad.mit.edu	37	13	25745640	25745640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25745640C>A	ENST00000357816.2	-	2	593	c.118G>T	c.(118-120)Gcg>Tcg	p.A40S	AMER2_ENST00000515384.1_Missense_Mutation_p.A40S|AMER2_ENST00000381853.3_Missense_Mutation_p.A40S					APC membrane recruitment protein 2									p.A40S(2)									ATGTCTGCCGCGAGGGTCCCG	0.687000													3	13					0.115264	0.116521	0.115264	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:47846506C>G	ENST00000339488.4	-	3	2107	c.2074G>C	c.(2074-2076)Gtc>Ctc	p.V692L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	692						integral to membrane	hedgehog receptor activity	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453000													17	67					0	0	0.146539	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749428	62749428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62749428T>A	ENST00000377871.3	-	4	949	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	SLC22A6_ENST00000421062.2_Missense_Mutation_p.Y228F|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.Y228F|SLC22A6_ENST00000458333.2_Missense_Mutation_p.Y228F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	228					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Y228F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGTAGACATAGCCAATCAA	0.592000													13	49					0	0	0.119110	0	0
MYOM3	127294	broad.mit.edu	37	1	24421441	24421441	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:24421441A>T	ENST00000330966.7	-	9	995	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	MYOM3_ENST00000374434.3_Missense_Mutation_p.L277Q|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.L277Q			Q5VTT5	MYOM3_HUMAN	myomesin 3	277	Ig-like C2-type 2.							p.L277Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTGGCTTCAGCACCGAGGT	0.537000													7	60					0	0	0.029380	0	0
CHI3L2	1117	broad.mit.edu	37	1	111770280	111770280	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:111770280G>T	ENST00000445067.2	+	3	700		c.e3-1		CHI3L2_ENST00000369748.4_Intron|CHI3L2_ENST00000369744.2_5'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2						chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CTTTCGTGTAGGACAGGCTGT	0.493000													23	52					1.39806e-14	1.89287e-14	0.134883	1	0
NUP43	348995	broad.mit.edu	37	6	150067678	150067678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:150067678C>A	ENST00000367403.3	-	1	136	c.137G>T	c.(136-138)cGc>cTc	p.R46L	NUP43_ENST00000340413.2_5'UTR|NUP43_ENST00000463048.3_Intron			Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	0					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GCACAGTACGCGCCTCTCAGC	0.552000											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	68					2.80507e-11	3.53568e-11	0.163468	1	0
LSAMP	4045	broad.mit.edu	37	3	115805319	115805319	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:115805319C>A	ENST00000490035.1	-	2	739	c.240G>T	c.(238-240)ctG>ctT	p.L80L	LSAMP_ENST00000539563.1_Silent_p.L77L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.L80L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCCGTGGGTCCAGAGACCACT	0.502000													26	115					3.65163e-15	5.02881e-15	0.116897	1	0
AP2A2	161	broad.mit.edu	37	11	1009345	1009345	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:1009345A>T	ENST00000448903.2	+	20	2696	c.2555A>T	c.(2554-2556)cAg>cTg	p.Q852L	AP2A2_ENST00000332231.5_Missense_Mutation_p.Q853L|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	852					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.Q853L(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGGAAGTGCAGAACATCTTC	0.577000													14	38					0	0	0.119110	0	0
PDZD9	255762	broad.mit.edu	37	16	21999929	21999929	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:21999929A>C	ENST00000286143.6	-	4	530	c.209T>G	c.(208-210)gTa>gGa	p.V70G	PDZD9_ENST00000537222.2_Missense_Mutation_p.V72G|PDZD9_ENST00000424898.2_Missense_Mutation_p.V132G			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	132	PDZ.							p.V70G(2)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TTACCTTGTTACTGGGAATTT	0.343000													35	98					0	0	0.092188	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481082	27481082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:27481082C>T	ENST00000233535.4	-	3	723	c.371G>A	c.(370-372)tGg>tAg	p.W124*	SLC30A3_ENST00000447008.2_Nonsense_Mutation_p.W119*	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	124					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.W124*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGAGCCAGAGGGAGAA	0.637000													29	73					0	0	0.144211	0	0
KCTD7	154881	broad.mit.edu	37	7	66264318	66264318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:66264318G>T	ENST00000380828.2	+	9	1011	c.857G>T	c.(856-858)cGc>cTc	p.R286L	RABGEF1_ENST00000439720.2_Missense_Mutation_p.R259L|KCTD7_ENST00000510829.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R246L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R260L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R246L|KCTD7_ENST00000451741.2_Missense_Mutation_p.R246L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R246L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGAGCCCTGCGCTGGGTTACG	0.493000													23	58					7.87624e-14	1.05104e-13	0.076483	1	0
SKAP2	8935	broad.mit.edu	37	7	26779578	26779578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:26779578G>A	ENST00000345317.2	-	5	626	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	105					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.Q105*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGAGGAAACTGGGCTCCTATG	0.388000													12	71					0	0	0.105934	0	0
IL27RA	9466	broad.mit.edu	37	19	14153294	14153294	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:14153294G>T	ENST00000263379.2	+	5	689	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	188	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.L188L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCATACCCCTGACCCCTGTTG	0.547000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	236					1.12176e-53	2.16623e-53	0.139131	1	0
PDILT	204474	broad.mit.edu	37	16	20380897	20380897	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20380897C>A	ENST00000302451.4	-	8	1281	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	345					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.A345S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGTACCTGGCGTCAGAGCTC	0.468000													62	264					2.22609e-26	3.66954e-26	0.139131	1	0
NEGR1	257194	broad.mit.edu	37	1	72400910	72400910	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:72400910C>A	ENST00000357731.4	-	2	500	c.261G>T	c.(259-261)gtG>gtT	p.V87V	NEGR1_ENST00000434200.1_Silent_p.V85V|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	87	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane		p.V87V(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTCGAGGATCCACTGACCACT	0.433000													35	123					1.90571e-15	2.63648e-15	0.203993	1	0
ATP2A1	487	broad.mit.edu	37	16	28898990	28898990	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:28898990C>T	ENST00000395503.4	+	8	1059	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ATP2A1_ENST00000357084.3_Missense_Mutation_p.A292V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A167V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	292					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.A292V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TTCCGCGGGGCCATCTACTAC	0.547000													24	221					0	0	0.108266	0	0
KCNH1	3756	broad.mit.edu	37	1	211256166	211256166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:211256166C>A	ENST00000367007.4	-	5	683	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	KCNH1_ENST00000271751.4_Missense_Mutation_p.V172L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	172					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.V172L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTTTTTGCACGCTTGGAGCC	0.562000													92	168					1.16668e-32	2.07965e-32	0.139131	1	0
PACS1	55690	broad.mit.edu	37	11	66001697	66001697	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:66001697G>A	ENST00000320580.4	+	17	2121	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S	PACS1_ENST00000529757.1_Silent_p.S232S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	696					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S696S(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAGTCGCTCGGAGCCACCAG	0.567000													25	179					0	0	0.091800	0	0
SNHG14	104472715	broad.mit.edu	37	15	25448271	25448271	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:25448271T>C	ENST00000424208.1	+	0	2117				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCTGGTGTGCTGAAGCTCAGG	0.647000													18	55					0	0	0.175082	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999351	27999351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:27999351G>T	ENST00000441525.1	-	1	215	c.101C>A	c.(100-102)gCg>gAg	p.A34E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	34								p.A34E(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGAGGAGGCCGCCGTCACCGC	0.562000													14	10					1.55469e-16	2.20401e-16	0.083992	1	0
PRSS12	8492	broad.mit.edu	37	4	119216985	119216985	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:119216985T>A	ENST00000296498.3	-	10	2146	c.1864A>T	c.(1864-1866)Aga>Tga	p.R622*	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	622	Zymogen activation region.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TGCAGTAATCTCAAGCCACAA	0.378000													4	115					0	0	0.021553	0	0
SPTBN1	6711	broad.mit.edu	37	2	54893182	54893182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:54893182G>T	ENST00000356805.4	+	34	7071	c.6790G>T	c.(6790-6792)Gtg>Ttg	p.V2264L		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2264	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.V2264L(2)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCTGCGAAGTGGCCCTTGA	0.468000													42	281					9.58827e-17	1.36248e-16	0.139131	1	0
COL27A1	85301	broad.mit.edu	37	9	117027389	117027389	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117027389C>T	ENST00000356083.3	+	31	3729	c.3339_splice	c.e31+1	p.P1113_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1113	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1113L(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGCTTTCCTGTAAGTAGC	0.547000													50	183					0	0	0.139131	0	0
CD5L	922	broad.mit.edu	37	1	157803126	157803126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:157803126T>A	ENST00000368174.4	-	5	991	c.895A>T	c.(895-897)Aaa>Taa	p.K299*		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	299	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.K299*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATAGCATTTCCGGTCTCTG	0.577000													79	216					0	0	0.139131	0	0
TRAV22	28661	broad.mit.edu	37	14	22539228	22539228	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22539228G>T	ENST00000390450.3	+	0	221																											GAGTCCTCCAGACCTGATTCT	0.463000													33	90					1.57351e-24	2.53487e-24	0.193644	1	0
PLCE1	51196	broad.mit.edu	37	10	96005858	96005858	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:96005858A>G	ENST00000260766.3	+	8	3210	c.2576A>G	c.(2575-2577)cAg>cGg	p.Q859R	PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859R|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551R|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATGTGCACCAGTTCCTGCTG	0.587000													35	65					0	0	0.131918	0	0
FAM120A	23196	broad.mit.edu	37	9	96318676	96318676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:96318676G>T	ENST00000277165.6	+	13	2481	c.2287G>T	c.(2287-2289)Gat>Tat	p.D763Y	FAM120A_ENST00000333936.5_Missense_Mutation_p.D791Y|FAM120A_ENST00000340893.4_Missense_Mutation_p.D763Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	763						cytoplasm|plasma membrane	RNA binding	p.D763Y(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGAACCTAGATCCCCGAGG	0.388000													16	247					1.99824e-07	2.2954e-07	0.160694	1	0
TTN	7273	broad.mit.edu	37	2	179592523	179592523	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179592523C>T	ENST00000589042.1	-	68	20006	c.19782G>A	c.(19780-19782)aaG>aaA	p.K6594K	TTN_ENST00000342992.6_Silent_p.K5350K|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.K6277K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6277	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K5350K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTATTGCCTTAAATTCCA	0.373000													59	129					0	0	0.139131	0	0
BCL11B	64919	broad.mit.edu	37	14	99641151	99641151	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:99641151C>G	ENST00000345514.2	-	3	2075	c.1809G>C	c.(1807-1809)gcG>gcC	p.A603A	BCL11B_ENST00000357195.3_Silent_p.A674A|BCL11B_ENST00000443726.2_Silent_p.A480A	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	674	Gly-rich.					nucleus	zinc ion binding	p.A674A(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGGGCAGCGGCGCGGGCTTGC	0.771000			T	TLX3	T-ALL								11	24					0	0	0.093190	0	0
KIAA1109	84162	broad.mit.edu	37	4	123260563	123260563	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:123260563G>T	ENST00000264501.4	+	72	12725	c.12352_splice	c.e72+1	p.G4118_splice	KIAA1109_ENST00000388738.3_Splice_Site_p.G4118_splice			Q2LD37	K1109_HUMAN	KIAA1109	4118	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G4118C(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATACCAGGTATAGATAA	0.313000													28	107					2.4375e-19	3.65322e-19	0.125774	1	0
AGO3	192669	broad.mit.edu	37	1	36437711	36437711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:36437711G>T	ENST00000373191.4	+	4	748	c.399G>T	c.(397-399)tgG>tgT	p.W133C	AGO3_ENST00000397828.2_Missense_Mutation_p.W133C|AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000324350.5_Missense_Mutation_p.W133C	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3									p.W133C(2)									GGGTGAGTTGGCACCTACTGC	0.483000													15	102					1.05317e-09	1.28189e-09	0.119110	1	0
MMEL1	79258	broad.mit.edu	37	1	2537711	2537711	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:2537711C>T	ENST00000288709.6	-	8	939	c.699G>A	c.(697-699)caG>caA	p.Q233Q	MMEL1_ENST00000378412.3_Silent_p.Q242Q|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	242					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.Q233Q(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCTGGAGTTCTGGTCGTCGT	0.642000													20	82					0	0	0.069288	0	0
RBBP6	5930	broad.mit.edu	37	16	24578506	24578506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24578506G>C	ENST00000319715.4	+	15	2064	c.1632G>C	c.(1630-1632)agG>agC	p.R544S	RBBP6_ENST00000348022.2_Missense_Mutation_p.R544S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R544S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATCACAGAGGACTCAAGGCC	0.478000													29	156					0	0	0.173368	0	0
GABRE	2564	broad.mit.edu	37	X	151131077	151131077	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:151131077G>A	ENST00000393914.3	-	0	604				GABRE_ENST00000370325.1_Silent_p.Y127Y|GABRE_ENST00000370328.3_Silent_p.Y127Y			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y14Y(2)|p.Y127Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGTTCGTCGTACCAGGTCT	0.463000													13	164					0	0	0.119110	0	0
RNF17	56163	broad.mit.edu	37	13	25356050	25356050	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25356050G>A	ENST00000255324.5	+	6	631	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RNF17_ENST00000255325.5_Silent_p.Q193Q|RNF17_ENST00000381921.1_Silent_p.Q193Q|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	193					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q193Q(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGAGAAACAGTTTGACCAAC	0.328000													11	68					0	0	0.069234	0	0
MYH14	79784	broad.mit.edu	37	19	50779265	50779265	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:50779265G>C	ENST00000440075.2	+	28	3532	c.3485G>C	c.(3484-3486)gGg>gCg	p.G1162A	MYH14_ENST00000601313.1_Missense_Mutation_p.G1162A|MYH14_ENST00000598205.1_Missense_Mutation_p.G1129A|MYH14_ENST00000596571.1_Missense_Mutation_p.G1121A|MYH14_ENST00000262269.8_Missense_Mutation_p.G1162A|MYH14_ENST00000425460.1_Missense_Mutation_p.G1129A|MYH14_ENST00000376970.2_Missense_Mutation_p.G1154A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1121					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G1121A(2)|p.G1162A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGAGGGTGGGGCCCGGGCC	0.647000													5	33					0	0	0.038147	0	0
HOXA1	3198	broad.mit.edu	37	7	27135327	27135327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27135327G>T	ENST00000343060.4	-	1	266	c.205C>A	c.(205-207)Cac>Aac	p.H69N	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.H69N	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	69	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H69N(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggtggtggtggtggtggtgg	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	66					4.87955e-14	6.56235e-14	0.108266	1	0
INTU	27152	broad.mit.edu	37	4	128632153	128632153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:128632153G>T	ENST00000335251.5	+	14	2558	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	819								p.E819*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TACCCTTGAAGAGGTGGCACA	0.418000													44	123					9.14704e-12	1.16884e-11	0.104719	1	0
OR1N2	138882	broad.mit.edu	37	9	125315646	125315646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:125315646C>G	ENST00000373688.2	+	1	256	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I66M(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGGCCATCAGCTCTGACC	0.527000													20	214					0	0	0.062417	0	0
NUGGC	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:27927077C>T	ENST00000413272.2	-	4	383	c.241G>A	c.(241-243)Gga>Aga	p.G81R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G81R(4)									TACTTGACTCCATTAGGGATG	0.413000													21	97					0	0	0.055883	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264058	140264058	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140264058C>A	ENST00000289272.2	+	1	2205	c.2205C>A	c.(2203-2205)ggC>ggA	p.G735G	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G735G|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.G735G(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCGGGCAAGCCCACTC	0.687000													15	116					1.64113e-05	1.80435e-05	0.055883	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914953	94914953	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94914953G>T	ENST00000334708.3	-	2	223	c.159C>A	c.(157-159)acC>acA	p.T53T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	53					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T235T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATTGGTAATGGTGGGTGTGA	0.572000													96	263					3.0784e-53	5.92567e-53	0.139131	1	0
RNF151	146310	broad.mit.edu	37	16	2018677	2018677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:2018677G>T	ENST00000569714.1	+	4	497	c.489G>T	c.(487-489)gaG>gaT	p.E163D	RNF151_ENST00000321392.3_Missense_Mutation_p.E162D|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	163					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.E162D(1)		kidney(1)|lung(1)	2						GCTACCGGGAGCTGCACAACG	0.721000													4	3					0.00909568	0.00934381	0.150653	1	0
EXOC5	10640	broad.mit.edu	37	14	57684713	57684713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:57684713T>G	ENST00000413566.2	-	15	1959	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	EXOC5_ENST00000340918.7_Missense_Mutation_p.T469P	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	534					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		p.T536P(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCAATGCCAGTATCCAATTTC	0.289000													13	81					0	0	0.105934	0	0
OR4L1	122742	broad.mit.edu	37	14	20528425	20528425	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:20528425C>T	ENST00000315683.1	+	1	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGTCTCTCCACTGCCACAA	0.453000													41	322					0	0	0.092188	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													3	37					0	0	0.184627	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266601	113266601	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:113266601C>T	ENST00000369630.3	+	4	517	c.300C>T	c.(298-300)gaC>gaT	p.D100D	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region		p.D100D(2)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGTAGAGACCCTAGAGCTG	0.607000													12	141					0	0	0.119110	0	0
SPEF2	79925	broad.mit.edu	37	5	35779450	35779450	+	Splice_Site	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:35779450T>G	ENST00000440995.2	+	30	4432		c.e30+2		SPEF2_ENST00000303129.4_Splice_Site|SPEF2_ENST00000356031.3_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCTAAAGGTAGGAAAAATA	0.388000													6	202					0	0	0.029380	0	0
PDS5B	23047	broad.mit.edu	37	13	33320130	33320130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33320130A>T	ENST00000315596.10	+	24	2814	c.2628A>T	c.(2626-2628)tcA>tcT	p.S876S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	876					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.S876S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGATATGTCACGTCTGAGAC	0.328000													8	106					0	0	0.160694	0	0
STAP1	26228	broad.mit.edu	37	4	68436840	68436840	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:68436840T>A	ENST00000265404.2	+	2	241	c.159T>A	c.(157-159)acT>acA	p.T53T	STAP1_ENST00000396225.1_Silent_p.T53T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	53	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm		p.T53T(2)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGGAACTACTCTTTTCTTTT	0.308000													88	306					0	0	0.139131	0	0
BRIP1	83990	broad.mit.edu	37	17	59760806	59760806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:59760806T>C	ENST00000259008.2	-	20	3868	c.3601A>G	c.(3601-3603)Att>Gtt	p.I1201V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1201					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.I1201V(4)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCTTCAATATGCAGAATT	0.303000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					41	78					0	0	0.086207	0	0
OR5D14	219436	broad.mit.edu	37	11	55563649	55563649	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:55563649C>T	ENST00000335605.1	+	1	618	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T206T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTTCGCCACCTTCAATGAGA	0.433000													28	360					0	0	0.134883	0	0
TESPA1	9840	broad.mit.edu	37	12	55356793	55356793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:55356793G>A	ENST00000524622.1	-	7	1136	c.475C>T	c.(475-477)Cga>Tga	p.R159*	TESPA1_ENST00000532804.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000449076.1_Nonsense_Mutation_p.R297*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.R297*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.R159*	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	297								p.R297*(2)|p.R159*(2)									GGCCGGTCTCGGGGGCATGTG	0.542000													49	68					0	0	0.139131	0	0
DNAH9	1770	broad.mit.edu	37	17	11622751	11622751	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:11622751C>T	ENST00000262442.3	+	27	5721	c.5653C>T	c.(5653-5655)Cgc>Tgc	p.R1885C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1885C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1885	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1885C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTGGGCCGCGCACTGGG	0.627000													4	123					0	0	0.150653	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047196	76047196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:76047196G>A	ENST00000335749.4	+	3	2622	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	TNRC6C_ENST00000588061.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V685M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V685M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	685	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.V685M(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCTTCTGTGAAACAGAC	0.552000													5	12					0	0	0.184627	0	0
LCE3D	84648	broad.mit.edu	37	1	152552407	152552407	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552407G>T	ENST00000368787.3	-	2	62	c.6C>A	c.(4-6)tcC>tcA	p.S2S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization			p.S2S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TCTGCTGGCAGGACATCTTGG	0.547000													55	177					3.36121e-32	5.96503e-32	0.139131	1	0
SPRR1B	6699	broad.mit.edu	37	1	153005016	153005016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:153005016C>A	ENST00000307098.4	+	2	260	c.195C>A	c.(193-195)tgC>tgA	p.C65*	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C65*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCATGCCACCCCAAGG	0.617000													65	266					3.07184e-27	5.11266e-27	0.139131	1	0
TRPV5	56302	broad.mit.edu	37	7	142625790	142625790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142625790G>T	ENST00000265310.1	-	6	1106	c.758C>A	c.(757-759)aCt>aAt	p.T253N	TRPV5_ENST00000442623.1_Missense_Mutation_p.T253N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	253					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.T253N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTTACCACAGTGTTACCCTC	0.577000													17	24					1.99824e-07	2.2954e-07	0.160694	1	0
RP1	6101	broad.mit.edu	37	8	55538014	55538014	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:55538014T>G	ENST00000220676.1	+	4	1720	c.1572T>G	c.(1570-1572)gaT>gaG	p.D524E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	524					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D524E(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACAATGATCAAATGGAGG	0.348000													7	104					0	0	0.058154	0	0
FAM47C	442444	broad.mit.edu	37	X	37027514	37027514	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:37027514C>T	ENST00000358047.3	+	1	1083	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	344								p.P344L(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCACCCAGAGCCTCCC	0.622000													51	86					0	0	0.139131	0	0
FHL1	2273	broad.mit.edu	37	X	135288623	135288623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:135288623G>T	ENST00000543669.1	+	2	743	c.32G>T	c.(31-33)aGg>aTg	p.R11M	FHL1_ENST00000539015.1_Missense_Mutation_p.R40M|FHL1_ENST00000370676.3_Missense_Mutation_p.R27M|FHL1_ENST00000370683.1_Missense_Mutation_p.R27M|FHL1_ENST00000394153.2_Missense_Mutation_p.R11M|FHL1_ENST00000345434.3_Missense_Mutation_p.R11M|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370690.3_Missense_Mutation_p.R11M|FHL1_ENST00000394155.2_Missense_Mutation_p.R11M|FHL1_ENST00000535737.1_Missense_Mutation_p.R11M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	11					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.R11M(4)|p.R40M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CACTACTGCAGGGATCCCTTG	0.557000													102	158					1.54984e-59	3.02194e-59	0.139131	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616685	77616685	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77616685A>G	ENST00000521891.2	+	2	810	c.362A>G	c.(361-363)gAc>gGc	p.D121G	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D121G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D121G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D121G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D121G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTTAGAGGACAGTGACGTG	0.478000										HNSCC(33;0.089)			5	274					0	0	0.021553	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313590	17313590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:17313590C>A	ENST00000452699.1	-	26	3208	c.3019G>T	c.(3019-3021)Gtg>Ttg	p.V1007L	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.V968L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.V1012L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	1012					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.V1012L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACGCCGGTCACCAGGACCATC	0.711000													31	59					1.74807e-11	2.21962e-11	0.153744	1	0
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552000													102	143					1.7666e-45	3.35236e-45	0.139131	1	0
PPP3R2	5535	broad.mit.edu	37	9	104356802	104356802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:104356802G>T	ENST00000374806.1	-	1	481	c.411C>A	c.(409-411)gaC>gaA	p.D137E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	134	EF-hand 4.						calcium ion binding	p.D137E(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TGATGGTTTTGTCGACCAGCT	0.522000													15	135					4.93089e-13	6.50791e-13	0.119110	1	0
OR13C2	392376	broad.mit.edu	37	9	107367620	107367620	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107367620A>T	ENST00000542196.1	-	1	331	c.289T>A	c.(289-291)Tgt>Agt	p.C97S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCACTGCACAGCCAGAAAGG	0.532000													12	134					0	0	0.173368	0	0
TDRD6	221400	broad.mit.edu	37	6	46657599	46657599	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:46657599G>T	ENST00000544460.1	+	1	1988	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	TDRD6_ENST00000316081.6_Silent_p.V578V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	578	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.V578V(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGAAAATGTGGACTGGTATG	0.433000													81	234					5.41189e-41	1.01263e-40	0.139131	1	0
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:10448802G>A	ENST00000245503.5	-	5	750	c.366C>T	c.(364-366)ttC>ttT	p.F122F	MYH2_ENST00000397183.2_Silent_p.F122F|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.F122F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	122	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F122F(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTGACACAGAAGAGACCTG	0.453000													51	92					0	0	0.139131	0	0
AGAP1	116987	broad.mit.edu	37	2	236653424	236653424	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:236653424G>T	ENST00000409538.1	+	5	1770	c.1274G>T	c.(1273-1275)aGt>aTt	p.S425I	AGAP1_ENST00000409457.1_Missense_Mutation_p.S160I|AGAP1_ENST00000336665.5_Missense_Mutation_p.S160I|AGAP1_ENST00000428334.2_5'UTR|AGAP1_ENST00000304032.7_Missense_Mutation_p.S160I			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	160	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACTACTACAGTCGAATGGCC	0.478000													7	116					1.26484e-09	1.53488e-09	0.038147	1	0
DNER	92737	broad.mit.edu	37	2	230341871	230341871	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:230341871A>G	ENST00000341772.4	-	7	1380	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	416	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C416R(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGACACTGGCAGGTGAATCCA	0.378000													7	49					0	0	0.125774	0	0
AGXT2	64902	broad.mit.edu	37	5	34998886	34998886	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:34998886C>G	ENST00000231420.6	-	14	1683	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	495					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.D495H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACTGCAAAATCAACTTCTGGT	0.358000													5	151					0	0	0.029380	0	0
C7	730	broad.mit.edu	37	5	40964907	40964907	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:40964907T>A	ENST00000313164.9	+	14	2173	c.1814T>A	c.(1813-1815)cTt>cAt	p.L605H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	605	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.L605H(1)					Ovarian(839;0.0112)				GGATACTCTCTTATTGGAAAC	0.393000													7	225					0	0	0.038147	0	0
LZTS2	84445	broad.mit.edu	37	10	102763886	102763886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:102763886G>T	ENST00000370220.1	+	2	4094	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	LZTS2_ENST00000370223.3_Missense_Mutation_p.R344L			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	344					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.R344L(2)|p.R207L(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGCAGCTGCGGGACAGTCTG	0.622000													36	74					4.67007e-22	7.2332e-22	0.104719	1	0
ISLR	3671	broad.mit.edu	37	15	74467708	74467708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:74467708C>T	ENST00000249842.3	+	2	866	c.509C>T	c.(508-510)aCc>aTc	p.T170I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.T170I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	170					cell adhesion	extracellular region		p.T170I(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACCCCGCTCACCGCGCTGTCC	0.657000													25	44					0	0	0.083992	0	0
RAG1	5896	broad.mit.edu	37	11	36597537	36597537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:36597537G>T	ENST00000299440.5	+	2	2795	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	895					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V895L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGAAACCAGTATGGCGATC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				26	151					1.42536e-11	1.81368e-11	0.099896	1	0
AFF4	27125	broad.mit.edu	37	5	132270357	132270357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:132270357G>A	ENST00000265343.5	-	3	779	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	AFF4_ENST00000378595.3_Nonsense_Mutation_p.Q134*|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	134	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.Q134*(2)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTCCGCTGGCTACTATGT	0.532000													27	67					0	0	0.153744	0	0
HYDIN	54768	broad.mit.edu	37	16	70908208	70908208	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:70908208C>A	ENST00000393567.2	-	64	11098	c.10948_splice	c.e64+1	p.A3650_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3650								p.A3601S(2)|p.A3649S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTCCCACCTGCCACCAAG	0.458000													40	238					2.56175e-15	3.53597e-15	0.139131	1	0
WDR36	134430	broad.mit.edu	37	5	110440497	110440497	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:110440497A>T	ENST00000506538.2	+	9	1749	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	WDR36_ENST00000505303.1_Silent_p.G336G|WDR36_ENST00000513710.2_Silent_p.G392G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	392					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.G392G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACAGAATGGACAGCAGATTC	0.398000													18	307					0	0	0.204396	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067033	18067033	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:18067033T>A	ENST00000506618.2	-	1	453	c.373A>T	c.(373-375)Atc>Ttc	p.I125F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	125					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.I125F(4)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCATGGTGATGATATGATCC	0.463000													79	149					0	0	0.139131	0	0
TJAP1	93643	broad.mit.edu	37	6	43472822	43472822	+	Silent	SNP	G	G	A	rs151059106	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:43472822G>A	ENST00000372444.2	+	11	1306	c.873G>A	c.(871-873)ccG>ccA	p.P291P	TJAP1_ENST00000372452.1_Silent_p.P291P|TJAP1_ENST00000438588.2_Silent_p.P301P|TJAP1_ENST00000436109.2_Silent_p.P291P|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Silent_p.P301P|TJAP1_ENST00000372449.1_Silent_p.P301P|TJAP1_ENST00000259751.1_Silent_p.P291P	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	301	Pro-rich.					Golgi apparatus|tight junction	protein binding	p.P291P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGGGCTCCCCGGAGGAAGAGC	0.647000													36	162					0	0	0.080422	0	0
PDZRN3	23024	broad.mit.edu	37	3	73673725	73673725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:73673725G>T	ENST00000263666.4	-	1	366	c.252C>A	c.(250-252)taC>taA	p.Y84*	PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Nonsense_Mutation_p.Y84*	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	84							ubiquitin-protein ligase activity|zinc ion binding	p.Y84*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGCGCGTCGCGTACGCGCACT	0.716000													3	12					0.115264	0.116521	0.115264	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110478928	110478928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:110478928C>A	ENST00000378402.5	+	50	8639	c.8535C>A	c.(8533-8535)caC>caA	p.H2845Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2845					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.H2847Q(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGCTTTCACCGTTTAGCGT	0.438000										HNSCC(38;0.096)			28	48					1.17739e-12	1.53048e-12	0.108266	1	0
LRAT	9227	broad.mit.edu	37	4	155670250	155670250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155670250G>T	ENST00000336356.3	+	3	908	c.655G>T	c.(655-657)Gca>Tca	p.A219S	LRAT_ENST00000507827.1_Missense_Mutation_p.A219S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	219					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	p.A219S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TACCCTTCCTGCAATTTTTAT	0.393000													89	347					7.15876e-41	1.33534e-40	0.139131	1	0
STEAP4	79689	broad.mit.edu	37	7	87913403	87913403	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:87913403C>T	ENST00000380079.4	-	2	283	c.182G>A	c.(181-183)gGt>gAt	p.G61D	STEAP4_ENST00000301959.5_Missense_Mutation_p.G61D|STEAP4_ENST00000414498.1_Missense_Mutation_p.G61D|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	61					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.G61D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GACTTCTGCACCACTGGGCAG	0.438000													39	208					0	0	0.086207	0	0
NDST4	64579	broad.mit.edu	37	4	115773883	115773883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:115773883G>C	ENST00000264363.2	-	8	2492	c.1814C>G	c.(1813-1815)aCa>aGa	p.T605R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	605	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T605R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGG	0.303000													20	56					0	0	0.062417	0	0
CFHR4	10877	broad.mit.edu	37	1	196871741	196871741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196871741C>A	ENST00000367416.2	+	2	386	c.249C>A	c.(247-249)tgC>tgA	p.C83*	CFHR4_ENST00000251424.4_Nonsense_Mutation_p.C84*|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C83*(2)|p.C84*(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CGGTCCCATGCCTCAGTAAGT	0.348000													69	193					2.34191e-24	3.76769e-24	0.139131	1	0
DFNB31	25861	broad.mit.edu	37	9	117166348	117166348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117166348G>T	ENST00000362057.3	-	10	2414	c.2246C>A	c.(2245-2247)aCg>aAg	p.T749K	DFNB31_ENST00000374059.3_Missense_Mutation_p.T398K|DFNB31_ENST00000265134.6_Missense_Mutation_p.T366K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	749					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.T749K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGAGCGTAGAGGCTGC	0.632000													23	46					3.62473e-10	4.43882e-10	0.062417	1	0
PIP4K2B	8396	broad.mit.edu	37	17	36935738	36935738	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:36935738C>T	ENST00000269554.3	-	5	1032	c.552G>A	c.(550-552)ctG>ctA	p.L184L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	184	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	p.L184L(3)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTACATGCCCAGGAACTGTG	0.517000													38	89					0	0	0.111260	0	0
A1CF	29974	broad.mit.edu	37	10	52580401	52580401	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:52580401C>G	ENST00000395489.2	-	10	1153	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	A1CF_ENST00000395495.1_Missense_Mutation_p.E205Q|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.E268Q|A1CF_ENST00000373993.1_Missense_Mutation_p.E260Q|A1CF_ENST00000282641.2_Missense_Mutation_p.E260Q|A1CF_ENST00000373997.3_Missense_Mutation_p.E260Q|A1CF_ENST00000374001.1_Missense_Mutation_p.E260Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	260	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E260Q(2)|p.E268Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCACCCTCTCCACAGCACCT	0.388000													12	101					0	0	0.093190	0	0
TRAV4	28689	broad.mit.edu	37	14	22205254	22205254	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22205254C>A	ENST00000390426.2	+	0	385																											ACTACTGCCTCGTGGGTGACA	0.557000													12	38					7.93312e-07	8.99286e-07	0.119110	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130340820	130340820	+	Missense_Mutation	SNP	G	G	A	rs147190472		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:130340820G>A	ENST00000299164.2	+	6	1726	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	576	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G576R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTAGCCTCCGGAAAGAGCTT	0.602000													35	587					0	0	0.203993	0	0
NLRP3	114548	broad.mit.edu	37	1	247587802	247587802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247587802G>T	ENST00000366497.2	+	4	1837	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	NLRP3_ENST00000336119.3_Missense_Mutation_p.V353L|NLRP3_ENST00000348069.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391828.3_Missense_Mutation_p.V353L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.V353L|NLRP3_ENST00000366496.2_Missense_Mutation_p.V353L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	353	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V353L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACGAGACCTGTGGCCCTGGA	0.557000													66	187					6.52717e-41	1.21942e-40	0.139131	1	0
KIAA1524	57650	broad.mit.edu	37	3	108278693	108278693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:108278693C>A	ENST00000295746.8	-	16	2000	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D483Y	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	642						cytoplasm|integral to membrane	protein binding	p.D642Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAAAGATCTTGTAGCCTG	0.353000													23	80					6.44725e-10	7.8633e-10	0.069288	1	0
SEMA3A	10371	broad.mit.edu	37	7	83640407	83640407	+	Splice_Site	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:83640407T>C	ENST00000265362.3	-	9	1240	c.925_splice	c.e9-1	p.Q309_splice	SEMA3A_ENST00000436949.1_Splice_Site_p.Q309_splice	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	309	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.Q309R(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAATACATCCTCTGTTTAAAA	0.313000													27	69					0	0	0.099896	0	0
RIMS2	9699	broad.mit.edu	37	8	104943527	104943527	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:104943527A>G	ENST00000507740.1	+	9	1893	c.1657A>G	c.(1657-1659)Ata>Gta	p.I553V	RIMS2_ENST00000262231.10_Missense_Mutation_p.I600V|RIMS2_ENST00000436393.2_Missense_Mutation_p.I539V|RIMS2_ENST00000406091.3_Missense_Mutation_p.I761V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	823					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.I553V(4)|p.I828V(2)|p.I539V(2)|p.I761V(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACCAATTAATAGTTACAAT	0.338000										HNSCC(12;0.0054)			15	143					0	0	0.146539	0	0
IPO8	10526	broad.mit.edu	37	12	30783888	30783888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:30783888G>T	ENST00000256079.4	-	25	3358	c.3020C>A	c.(3019-3021)gCa>gAa	p.A1007E	IPO8_ENST00000544829.1_Missense_Mutation_p.A802E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.A1007E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCTTCTTTGCCTCTAGCAT	0.398000													44	85					1.76056e-25	2.86685e-25	0.124865	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283669	151283669	+	RNA	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:151283669T>A	ENST00000509345.2	-	0	667																											ATGAATCAAGTCAGCCACCTT	0.498000													7	147					0	0	0.029380	0	0
DIO2	1734	broad.mit.edu	37	14	80669342	80669342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:80669342G>T	ENST00000557010.1	-	4	897	c.512C>A	c.(511-513)gCg>gAg	p.A171E	DIO2_ENST00000438257.4_Missense_Mutation_p.A171E|DIO2_ENST00000555750.1_Missense_Mutation_p.A207E|DIO2_ENST00000557125.1_Silent_p.R46R|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	171					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.A207E(2)|p.A171E(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCGGTATCGCCCAGCCATC	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	84					2.4624e-09	2.96719e-09	0.204396	1	0
ELF1	1997	broad.mit.edu	37	13	41507884	41507884	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:41507884G>C	ENST00000239882.3	-	9	1851	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q489E	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	513					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q513E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAATGGTCTGAACATTGCTA	0.517000													13	127					0	0	0.093190	0	0
SYTL2	54843	broad.mit.edu	37	11	85459316	85459316	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:85459316T>A	ENST00000316356.4	-	3	816	c.253_splice	c.e3+1	p.A84_splice	SYTL2_ENST00000528231.1_Splice_Site_p.A84_splice|SYTL2_ENST00000527523.1_Splice_Site_p.A36_splice|SYTL2_ENST00000524452.1_Splice_Site_p.A84_splice|SYTL2_ENST00000389960.4_Splice_Site_p.A84_splice			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	84					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.A84A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCAACTCACCTGCTATCTGGG	0.468000													92	165					0	0	0.139131	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555000	22555000	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22555000G>A	ENST00000390451.2	+	0	171																											TGATAGTCCAGAAAGGAGGGA	0.428000													8	64					0	0	0.038147	0	0
TRIM71	131405	broad.mit.edu	37	3	32933145	32933145	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:32933145C>T	ENST00000383763.4	+	4	2512	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	817					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGGAACCATCGGGTACAGAT	0.602000													8	172					0	0	0.069234	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212589	1212589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:1212589C>T	ENST00000304460.10	+	4	709	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	218					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T218I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCGAGACCACCGGGAAG	0.672000													38	180					0	0	0.086207	0	0
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:117718572G>A	ENST00000317775.6	-	8	2167	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.D494D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617000													13	77					0	0	0.132662	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396906	36396906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:36396906C>A	ENST00000317020.6	-	2	619	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	KIAA0895_ENST00000338533.5_Missense_Mutation_p.V145L|KIAA0895_ENST00000436884.1_Missense_Mutation_p.V7L|KIAA0895_ENST00000415803.2_Missense_Mutation_p.V145L|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.V107L|KIAA0895_ENST00000297063.6_Missense_Mutation_p.V158L	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	158								p.V158L(2)|p.V145L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCTTGTCACAGGCACCAGG	0.473000													58	154					1.17253e-29	2.01268e-29	0.139131	1	0
CNTN2	6900	broad.mit.edu	37	1	205030382	205030382	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:205030382C>A	ENST00000331830.4	+	8	1091	c.807C>A	c.(805-807)ccC>ccA	p.P269P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	269	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P269P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCTGTCCCCCGGATCAAGT	0.652000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	77					2.31682e-05	2.5426e-05	0.132662	1	0
PPM1G	5496	broad.mit.edu	37	2	27605369	27605369	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:27605369G>T	ENST00000344034.4	-	8	1569	c.1305C>A	c.(1303-1305)ttC>ttA	p.F435L	PPM1G_ENST00000350803.4_Missense_Mutation_p.F435L	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	435					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CAATGACCATGAATTCATGGT	0.483000													8	332					0.000157383	0.000168725	0.038147	1	0
MUC17	140453	broad.mit.edu	37	7	100680895	100680895	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100680895A>C	ENST00000306151.4	+	3	6262	c.6198A>C	c.(6196-6198)acA>acC	p.T2066T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2066	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2066T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.488000													53	264					0	0	0.139131	0	0
SETBP1	26040	broad.mit.edu	37	18	42533120	42533120	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:42533120G>C	ENST00000282030.5	+	4	4111	c.3815G>C	c.(3814-3816)aGc>aCc	p.S1272T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1272						nucleus	DNA binding	p.S1218T(2)|p.S1272T(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGGTGGCAGCACGAGATCA	0.532000									Schinzel-Giedion syndrome				13	45					0	0	0.093190	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162774	33162774	+	RNA	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:33162774A>C	ENST00000510327.1	-	0	346																											AGTCTCCTGGAAGAGCAGTTC	0.453000													13	46					0	0	0.105934	0	0
LOXL4	84171	broad.mit.edu	37	10	100017495	100017495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:100017495G>T	ENST00000260702.3	-	8	1322	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	391	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.P391H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TTCCAGGGCAGGGCAGTCGCT	0.582000													92	174					4.21487e-37	7.74226e-37	0.139131	1	0
TFPT	29844	broad.mit.edu	37	19	54618637	54618637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:54618637G>C	ENST00000391759.1	-	1	418	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	TFPT_ENST00000391757.1_Missense_Mutation_p.Q5E	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	5					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	p.Q5E(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCTTCTCTCTGCTCCAATTCC	0.522000			T	TCF3	pre-B ALL						OREG0003633|OREG0003635	type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	138					0	0	0.058154	0	0
UCMA	221044	broad.mit.edu	37	10	13264144	13264144	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:13264144C>A	ENST00000378681.3	-	5	448	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	UCMA_ENST00000463405.2_Missense_Mutation_p.G104C	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	126						proteinaceous extracellular matrix		p.G126C(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGGTGCAGGCCGTCATAGTGC	0.587000													12	49					0.00010058	0.000108601	0.093190	1	0
GPR63	81491	broad.mit.edu	37	6	97246908	97246908	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:97246908T>G	ENST00000229955.3	-	2	1045	c.700A>C	c.(700-702)Aca>Cca	p.T234P	GPR63_ENST00000417980.1_Missense_Mutation_p.T234P	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	234						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.T234P(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGATTGGTTGTGTACCCAAAC	0.448000													64	132					0	0	0.139131	0	0
RIMS1	22999	broad.mit.edu	37	6	72806785	72806785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:72806785G>T	ENST00000264839.7	+	3	379	c.379G>T	c.(379-381)Ggg>Tgg	p.G127W	RIMS1_ENST00000348717.5_Missense_Mutation_p.G127W|RIMS1_ENST00000518273.1_Missense_Mutation_p.G127W|RIMS1_ENST00000491071.2_Missense_Mutation_p.G127W|RIMS1_ENST00000522291.1_Missense_Mutation_p.G127W|RIMS1_ENST00000517960.1_Missense_Mutation_p.G127W|RIMS1_ENST00000520567.1_Missense_Mutation_p.G127W|RIMS1_ENST00000521978.1_Missense_Mutation_p.G127W			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	127	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G127W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTTTGCTGATGGGTGCGGTCA	0.507000													21	63					1.96292e-10	2.41853e-10	0.055883	1	0
DIP2C	22982	broad.mit.edu	37	10	409175	409175	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:409175C>T	ENST00000280886.6	-	21	2641	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.E173K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	852						nucleus	catalytic activity|transcription factor binding	p.E852K(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTCCTCTTCCGTGGAGTCA	0.607000													18	42					0	0	0.189662	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986279	51986279	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51986279G>C	ENST00000396477.4	+	4	703	c.682G>C	c.(682-684)Gac>Cac	p.D228H	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D289H	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	289						integral to membrane		p.D289H(2)|p.D228H(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGGGCCCGACTATGTGCT	0.552000													97	222					0	0	0.139131	0	0
KLHL6	89857	broad.mit.edu	37	3	183209920	183209920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:183209920G>C	ENST00000341319.3	-	7	1696	c.1661C>G	c.(1660-1662)gCg>gGg	p.A554G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	554								p.A554G(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTGCAGGGCGCGATACCGCA	0.657000													20	68					0	0	0.153744	0	0
SMC1B	27127	broad.mit.edu	37	22	45802673	45802673	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:45802673T>A	ENST00000357450.4	-	3	371	c.372A>T	c.(370-372)atA>atT	p.I124I	SMC1B_ENST00000404354.3_Silent_p.I124I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	124					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.I124I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATTATGCCTATCTTTTCCA	0.299000													38	90					0	0	0.098360	0	0
CSMD3	114788	broad.mit.edu	37	8	113299394	113299394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113299394G>A	ENST00000297405.5	-	58	9474	c.9230C>T	c.(9229-9231)aCt>aTt	p.T3077I	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22.					integral to membrane|plasma membrane		p.T3037I(1)|p.T3077I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAACGTACAGTACTTTTAGT	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	333					0	0	0.038147	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33631016	33631016	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:33631016G>A	ENST00000504830.1	-	13	2226	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H631Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACAAGGATGTGCTGAAGGG	0.488000										HNSCC(64;0.19)			7	150					0	0	0.038147	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049651	69049651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:69049651C>A	ENST00000295381.3	+	10	1796	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S453R|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S460R|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.S420R|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S452R|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.S153R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S453R(2)|p.S460R(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCCAACAGCAGCAAAATGG	0.478000													36	188					2.47316e-13	3.26771e-13	0.183431	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181997	140181997	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140181997C>T	ENST00000522353.2	+	1	1215	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	PCDHA3_ENST00000532566.2_Silent_p.Y405Y|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.Y405Y(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATTACTACTCATTGGTGC	0.627000													94	175					0	0	0.139131	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89196831	89196831	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:89196831C>G	ENST00000390244.2	+	0	84																											AGGTTCACCTCCTCAGCTTCC	0.453000													9	38					0	0	0.069234	0	0
SAPCD2	89958	broad.mit.edu	37	9	139959973	139959973	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:139959973C>T	ENST00000409687.3	-	3	959		c.e3+1			NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2							cytoplasm|nucleus		p.?(1)									GTGGCACTCACGGCGCTGGCT	0.682000													8	57					0	0	0.058154	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505620	44505620	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:44505620C>T	ENST00000255152.2	+	2	632	c.423C>T	c.(421-423)gcC>gcT	p.A141A	ZSWIM3_ENST00000454862.2_Silent_p.A135A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	141							zinc ion binding	p.A141A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTGACACTGCCGAGAAGTCCC	0.517000													13	93					0	0	0.093190	0	0
GMEB1	10691	broad.mit.edu	37	1	29041146	29041146	+	Missense_Mutation	SNP	C	C	T	rs148243859		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:29041146C>T	ENST00000373816.1	+	10	1691	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.P518L|GMEB1_ENST00000294409.2_Missense_Mutation_p.P528L	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	p.P518L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGCCCCGGACCCAGAA	0.532000													19	128					0	0	0.175082	0	0
OR4D5	219875	broad.mit.edu	37	11	123810656	123810656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:123810656G>T	ENST00000307033.2	+	1	407	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K111N(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGGCATCAAGATCTTCCTGC	0.498000													77	141					1.42344e-19	2.15212e-19	0.139131	1	0
INSL5	10022	broad.mit.edu	37	1	67266839	67266839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:67266839G>T	ENST00000304526.2	-	1	100	c.66C>A	c.(64-66)agC>agA	p.S22R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	22						extracellular region	hormone activity	p.S22R(2)		breast(2)|endometrium(1)|lung(5)	8						CAGACTCCTTGCTCCGCACTT	0.463000													36	97					6.84511e-11	8.52984e-11	0.183431	1	0
FUT8	2530	broad.mit.edu	37	14	66135974	66135974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:66135974G>C	ENST00000360689.5	+	7	2338	c.611G>C	c.(610-612)tGc>tCc	p.C204S	FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000358307.2_Missense_Mutation_p.C75S|FUT8_ENST00000557164.1_Missense_Mutation_p.C41S|FUT8_ENST00000394586.2_Missense_Mutation_p.C204S|FUT8_ENST00000394585.1_Missense_Mutation_p.C204S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	204					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.C204S(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCAAGGACTGCAGCAAAGCC	0.408000													33	56					0	0	0.173368	0	0
SPTBN2	6712	broad.mit.edu	37	11	66478225	66478225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:66478225T>A	ENST00000533211.1	-	10	1232	c.901A>T	c.(901-903)Atg>Ttg	p.M301L	SPTBN2_ENST00000309996.2_Missense_Mutation_p.M301L|SPTBN2_ENST00000529997.1_Missense_Mutation_p.M301L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	301					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.M301L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTGCCTCCATGGCATGGTCC	0.632000													11	87					0	0	0.132662	0	0
C8B	732	broad.mit.edu	37	1	57409484	57409484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:57409484G>T	ENST00000543257.1	-	9	1529	c.963C>A	c.(961-963)aaC>aaA	p.N321K	C8B_ENST00000535057.1_Missense_Mutation_p.N311K|C8B_ENST00000371237.4_Missense_Mutation_p.N373K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	373	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.N373K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATGGACGTTGTTAAGAGTAT	0.438000													19	135					1.67942e-08	1.98207e-08	0.175082	1	0
IPO8	10526	broad.mit.edu	37	12	30837234	30837234	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:30837234C>A	ENST00000256079.4	-	3	662		c.e3+1			NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCACCACATACCTCACTAAAT	0.398000													43	122					3.76604e-16	5.28913e-16	0.117977	1	0
PALD1	27143	broad.mit.edu	37	10	72293678	72293678	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:72293678G>T	ENST00000263563.6	+	8	1139	c.870_splice	c.e8-1	p.E291_splice		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.E291*(2)									TCTTTCCCAGGAGACCCCCAG	0.652000													9	93					4.68919e-08	5.48058e-08	0.069234	1	0
FAM65B	9750	broad.mit.edu	37	6	24843104	24843104	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24843104C>G	ENST00000259698.4	-	14	2081	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	FAM65B_ENST00000510784.2_Missense_Mutation_p.D620H|FAM65B_ENST00000538035.1_Missense_Mutation_p.D615H|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.D586H|FAM65B_ENST00000540914.1_Missense_Mutation_p.D586H	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	636					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.D586H(2)|p.D636H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGAATATCATCCAAATTCATG	0.343000													29	83					0	0	0.134883	0	0
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:26688465G>C	ENST00000436292.1	-	7	1372	c.1252C>G	c.(1252-1254)Cgc>Ggc	p.R418G	ZNF683_ENST00000349618.3_Missense_Mutation_p.R398G|ZNF683_ENST00000374204.1_Missense_Mutation_p.R398G|ZNF683_ENST00000403843.1_Missense_Mutation_p.R418G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R398G(2)|p.R403G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAGTGCAGGCGCAGGTGGGTC	0.637000													43	98					0	0	0.111260	0	0
ZNF746	155061	broad.mit.edu	37	7	149174740	149174740	+	Silent	SNP	G	G	C	rs145793561	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:149174740G>C	ENST00000340622.3	-	5	907	c.627C>G	c.(625-627)gcC>gcG	p.A209A	ZNF746_ENST00000458143.2_Silent_p.A209A			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	209					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.A209A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTGGCTGCCCGGCTGCCCACG	0.662000													38	72					0	0	0.214465	0	0
CUBN	8029	broad.mit.edu	37	10	17169920	17169920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:17169920G>A	ENST00000377833.4	-	3	321	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CUBN_ENST00000377823.1_Nonsense_Mutation_p.Q86*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	86					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTTTTCTGGATCTAATTT	0.284000													12	128					0	0	0.080935	0	0
OR8B12	219858	broad.mit.edu	37	11	124413479	124413479	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:124413479G>T	ENST00000306842.2	-	1	96	c.72C>A	c.(70-72)atC>atA	p.I24I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I24I(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAGAGGGGGATCCGCAGTC	0.547000													76	148					9.34078e-37	1.71058e-36	0.139131	1	0
SCN11A	11280	broad.mit.edu	37	3	38936055	38936055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:38936055T>A	ENST00000302328.3	-	15	3002	c.2804A>T	c.(2803-2805)cAg>cTg	p.Q935L	SCN11A_ENST00000450244.1_Missense_Mutation_p.Q935L|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q935L|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q935L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	935					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q935L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGATGCGCTGTGCATTATC	0.488000													6	408					0	0	0.029380	0	0
TEX2	55852	broad.mit.edu	37	17	62272302	62272302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:62272302C>A	ENST00000258991.3	-	3	1882	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	TEX2_ENST00000584379.1_Nonsense_Mutation_p.E600*|TEX2_ENST00000583097.1_Nonsense_Mutation_p.E600*			Q8IWB9	TEX2_HUMAN	testis expressed 2	600					signal transduction|sphingolipid metabolic process	integral to membrane		p.E600*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAGGTGACCTCTGGCTTGGGT	0.443000													48	159					1.41401e-22	2.21732e-22	0.139131	1	0
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:12880890G>T	ENST00000155926.4	+	3	2421	c.1002G>T	c.(1000-1002)atG>atT	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512000													16	75					3.32936e-07	3.79913e-07	0.175082	1	0
BAGE2	85319	broad.mit.edu	37	21	11039168	11039168	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:11039168G>A	ENST00000470054.1	-	0	1035									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGACACTAAGGTTTCTAGTGG	0.408000													13	542					0	0	0.105934	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690476	77690476	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77690476C>A	ENST00000521891.2	+	4	3574	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P	ZFHX4_ENST00000455469.2_Silent_p.P1016P|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Silent_p.P1016P|ZFHX4_ENST00000050961.6_Silent_p.P1016P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGAATCCCGAATCCTGCT	0.483000										HNSCC(33;0.089)			111	213					5.27813e-61	1.03082e-60	0.139131	1	0
TENM4	26011	broad.mit.edu	37	11	78468036	78468036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:78468036C>A	ENST00000278550.7	-	19	3032	c.2570G>T	c.(2569-2571)tGc>tTc	p.C857F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.C857F(4)									CTGGAGGCAGCAGTCAGGGTC	0.537000													19	50					8.00594e-06	8.89139e-06	0.189662	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418949	105418949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105418949C>A	ENST00000333244.5	-	7	2958	c.2839G>T	c.(2839-2841)Ggc>Tgc	p.G947C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	947						nucleus		p.G947C(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTTGGGGCCTTTCAGGTCC	0.607000													85	410					2.36867e-37	4.35762e-37	0.139131	1	0
PLB1	151056	broad.mit.edu	37	2	28855888	28855888	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28855888C>T	ENST00000422425.2	+	55	4091	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	PLB1_ENST00000327757.5_Silent_p.I1360I|PLB1_ENST00000541605.1_Silent_p.I325I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.I1349I(2)|p.I1360I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGATGGCCATCGCACTCTGGA	0.547000													20	145					0	0	0.062417	0	0
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:40468681C>T	ENST00000287598.6	+	5	583	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	BUB1B_ENST00000412359.3_Missense_Mutation_p.R144C|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R130C(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				40	95					0	0	0.111260	0	0
METTL4	64863	broad.mit.edu	37	18	2566948	2566948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:2566948G>A	ENST00000319888.6	-	2	1066	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL4_ENST00000574538.1_Missense_Mutation_p.P90S			Q8N3J2	METL4_HUMAN	methyltransferase like 4	90					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.P90S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAGTTCAGGTCGAAAAACA	0.368000													22	114					0	0	0.062417	0	0
SCAF11	9169	broad.mit.edu	37	12	46320773	46320773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:46320773C>A	ENST00000465950.1	-	1	2975	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V	SCAF11_ENST00000419565.2_Missense_Mutation_p.G904V|SCAF11_ENST00000549162.1_Missense_Mutation_p.G712V|SCAF11_ENST00000369367.3_Missense_Mutation_p.G904V			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	904					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.G904V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTCTCCTGGGGAAGA	0.458000													200	270					2.40591e-75	4.75265e-75	0.139131	1	0
PDGFA	5154	broad.mit.edu	37	7	540753	540753	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:540753C>A	ENST00000402802.3	-	5	987	c.580_splice	c.e5+1	p.D194_splice	PDGFA_ENST00000354513.5_Splice_Site_p.G194_splice	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	0					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.G194*(2)|p.D194Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		AGCCACTCACCCGTGTCCTCT	0.552000													33	319					1.69901e-12	2.19198e-12	0.080422	1	0
OR2T8	343172	broad.mit.edu	37	1	248084416	248084416	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248084416G>T	ENST00000319968.4	+	1	97	c.97G>T	c.(97-99)Gtt>Ttt	p.V33F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGAGTATCGTTTTGACCTC	0.483000													31	200					2.87052e-16	4.04559e-16	0.080422	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65208508	65208508	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:65208508A>G	ENST00000247226.7	+	14	2413	c.2105A>G	c.(2104-2106)aAc>aGc	p.N702S	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.N291S|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.N263S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.N758S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	758					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.N702S(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCCAGGTTCAACAGCCTTCCC	0.602000													74	224					0	0	0.139131	0	0
ERG	2078	broad.mit.edu	37	21	39775598	39775598	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:39775598T>G	ENST00000442448.1	-	6	714	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	ERG_ENST00000398911.1_Missense_Mutation_p.Q148P|ERG_ENST00000288319.7_Missense_Mutation_p.Q141P|ERG_ENST00000417133.2_Missense_Mutation_p.Q148P|ERG_ENST00000398910.1_Missense_Mutation_p.Q148P|ERG_ENST00000398897.1_Missense_Mutation_p.Q49P|ERG_ENST00000453032.2_Missense_Mutation_p.Q49P|ERG_ENST00000398919.2_Missense_Mutation_p.Q148P|ERG_ENST00000398905.1_Missense_Mutation_p.Q141P|ERG_ENST00000429727.2_Intron|ERG_ENST00000398907.1_Missense_Mutation_p.Q141P	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	148	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q148P(2)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCCAGCCACTGCCGCACATG	0.507000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								17	73					0	0	0.069288	0	0
NRSN1	140767	broad.mit.edu	37	6	24134721	24134721	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24134721A>T	ENST00000378491.4	+	3	467	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	NRSN1_ENST00000378475.1_Missense_Mutation_p.R56W|NRSN1_ENST00000378478.1_Missense_Mutation_p.R56W	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	56					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.R56W(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTAACAGGTGGAGCTC	0.453000													21	94					0	0	0.069288	0	0
HES2	54626	broad.mit.edu	37	1	6479306	6479306	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:6479306G>A	ENST00000377834.4	-	3	334	c.236C>T	c.(235-237)gCg>gTg	p.A79V	HES2_ENST00000377836.4_Intron|HES2_ENST00000377837.1_Intron|HES2_ENST00000489730.1_Missense_Mutation_p.A79V|HES2_ENST00000487437.1_Intron	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A79V(1)		lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCACGGGGCGCTGCCGTGGG	0.701000													8	28					0	0	0.069234	0	0
RCC2	55920	broad.mit.edu	37	1	17765004	17765004	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:17765004T>A	ENST00000375436.4	-	2	194	c.7A>T	c.(7-9)Agg>Tgg	p.R3W	RCC2_ENST00000375433.3_Missense_Mutation_p.R3W	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	3					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		p.R3W(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GCCTTCTTCCTGGGCATGGTC	0.751000													3	8					0	0	0.021553	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432850	73432850	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:73432850C>A	ENST00000263666.4	-	10	2981	c.2867G>T	c.(2866-2868)gGc>gTc	p.G956V	PDZRN3_ENST00000462146.2_Missense_Mutation_p.G613V|PDZRN3_ENST00000466780.1_Missense_Mutation_p.G613V|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G673V|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G678V	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	956							ubiquitin-protein ligase activity|zinc ion binding	p.G956V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGGTCATGCCGCTGCGCTC	0.667000													34	76					7.11191e-15	9.6944e-15	0.173368	1	0
PHF21A	51317	broad.mit.edu	37	11	45975093	45975093	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:45975093C>A	ENST00000257821.4	-	10	1703	c.1080G>T	c.(1078-1080)cgG>cgT	p.R360R	PHF21A_ENST00000418153.2_Silent_p.R359R|PHF21A_ENST00000323180.6_Silent_p.R360R|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	359					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	p.R360R(2)|p.R359R(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GGTTCTCCTCCCGTTTTGGTT	0.478000													9	94					0.000442599	0.000470311	0.058154	1	0
UTP20	27340	broad.mit.edu	37	12	101723088	101723088	+	Missense_Mutation	SNP	G	G	A	rs142628447		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:101723088G>A	ENST00000261637.4	+	27	3452	c.3278G>A	c.(3277-3279)cGt>cAt	p.R1093H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1093					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCTTTAGGTCGTCAGCACGGT	0.423000													5	232					0	0	0.184627	0	0
STXBP1	6812	broad.mit.edu	37	9	130420719	130420719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130420719C>G	ENST00000373302.3	+	4	374	c.235C>G	c.(235-237)Cca>Gca	p.P79A	STXBP1_ENST00000373299.1_Missense_Mutation_p.P79A	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	79					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.P79A(4)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCATCACTCCATCCGAGAA	0.483000													43	326					0	0	0.124865	0	0
CREBBP	1387	broad.mit.edu	37	16	3860755	3860755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:3860755G>T	ENST00000262367.5	-	3	1633	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.P275Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	275	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGTCCAAATGGACTTGTGTT	0.498000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	125					0.00909568	0.00934381	0.150653	1	0
IGSF10	285313	broad.mit.edu	37	3	151154859	151154859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151154859G>T	ENST00000282466.3	-	6	7489	c.7490C>A	c.(7489-7491)aCa>aAa	p.T2497K	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2497	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.T2497K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCATAAGCTGTTGCTTCTTT	0.388000													102	194					5.30763e-54	1.0299e-53	0.139131	1	0
ZNF236	7776	broad.mit.edu	37	18	74672732	74672732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:74672732C>G	ENST00000253159.8	+	30	5532	c.5334C>G	c.(5332-5334)taC>taG	p.Y1778*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Y1780*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1778					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y1778*(3)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCGGCCCTACAAGTGTGCCT	0.587000													12	116					0	0	0.080935	0	0
ADRBK1	156	broad.mit.edu	37	11	67049774	67049774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:67049774C>G	ENST00000308595.5	+	12	1280	c.990C>G	c.(988-990)caC>caG	p.H330Q	ADRBK1_ENST00000526285.1_Missense_Mutation_p.H330Q|ADRBK1_ENST00000527176.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	330	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.H330Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGGCCACGTGCGGATCT	0.657000													22	291					0	0	0.076483	0	0
HMCN1	83872	broad.mit.edu	37	1	185892747	185892747	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:185892747A>G	ENST00000271588.4	+	8	1476	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q416R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	416					response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q416R(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACCTCTTCCAGAGAGTATCA	0.358000													59	168					0	0	0.139131	0	0
TRMT2B	79979	broad.mit.edu	37	X	100278506	100278506	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:100278506C>T	ENST00000338687.7	-	7	1379	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	TRMT2B_ENST00000372939.1_Missense_Mutation_p.G192R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372935.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G237R|TRMT2B_ENST00000372931.5_Missense_Mutation_p.G237R			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	237							tRNA (uracil-5-)-methyltransferase activity	p.G237R(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATTGTGTGCCCTTGGCTATTG	0.443000													65	104					0	0	0.139131	0	0
NMRK2	27231	broad.mit.edu	37	19	3939950	3939950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:3939950G>T	ENST00000168977.2	+	6	666	c.376G>T	c.(376-378)Gag>Tag	p.E126*	NMRK2_ENST00000593949.1_Nonsense_Mutation_p.E131*|NMRK2_ENST00000599576.1_Intron	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2									p.E126*(2)									CCCGTATGAAGAGTGCAAGTG	0.602000													10	33					1.15088e-07	1.32963e-07	0.146539	1	0
LCE3D	84648	broad.mit.edu	37	1	152552359	152552359	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552359T>G	ENST00000368787.3	-	2	110	c.54A>C	c.(52-54)tcA>tcC	p.S18S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	18					keratinization			p.S18S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GACACTTGGGTGAGGGACACT	0.597000													73	217					0	0	0.139131	0	0
SCRN1	9805	broad.mit.edu	37	7	29966088	29966088	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:29966088C>T	ENST00000426154.1	-	7	1242	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	SCRN1_ENST00000242059.5_Missense_Mutation_p.A356T|SCRN1_ENST00000409497.1_Missense_Mutation_p.A356T|SCRN1_ENST00000416113.2_Missense_Mutation_p.A182T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	356					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A376T(1)|p.A356T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TCGATGATGGCACGTGCCCAC	0.622000													27	272					0	0	0.144211	0	0
HECW1	23072	broad.mit.edu	37	7	43283518	43283518	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:43283518T>A	ENST00000395891.1	+	3	619	c.14T>A	c.(13-15)cTg>cAg	p.L5Q	HECW1_ENST00000453890.1_Missense_Mutation_p.L5Q|AC004692.4_ENST00000458680.1_RNA|AC004692.4_ENST00000457315.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	5					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L5Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGCTGCACCTGTGTAGTGTG	0.448000													51	136					0	0	0.139131	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664295	38664295	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:38664295G>A	ENST00000336949.6	+	2	1041	c.96G>A	c.(94-96)gtG>gtA	p.V32V	MID1IP1_ENST00000457894.1_Silent_p.V32V|MID1IP1_ENST00000378474.3_Silent_p.V32V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	32					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		p.V32V(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACCAGACGGTGATGGTGCCCA	0.602000													18	23					0	0	0.069288	0	0
RANGAP1	5905	broad.mit.edu	37	22	41657531	41657531	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:41657531C>A	ENST00000455915.2	-	5	2003	c.534G>T	c.(532-534)aaG>aaT	p.K178N	RANGAP1_ENST00000407260.4_Intron|RANGAP1_ENST00000405486.1_Missense_Mutation_p.K178N|RANGAP1_ENST00000356244.3_Missense_Mutation_p.K178N			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.K178N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCAGAGGCTTGCCTTGGG	0.582000													36	51					1.48734e-19	2.2403e-19	0.131918	1	0
ALMS1P	200420	broad.mit.edu	37	2	73899571	73899571	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:73899571A>G	ENST00000450720.1	+	0	443					NR_003683.2																						GCTCTTTACCAGTTATCCTGA	0.393000													13	21					0	0	0.105934	0	0
MEPE	56955	broad.mit.edu	37	4	88767150	88767150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:88767150C>A	ENST00000497649.2	+	6	1436	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	MEPE_ENST00000540395.1_Missense_Mutation_p.A264E|MEPE_ENST00000361056.3_Missense_Mutation_p.A377E|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.A377E|MEPE_ENST00000395102.4_Missense_Mutation_p.A408E|MEPE_ENST00000560249.1_Missense_Mutation_p.A264E			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	377					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A377E(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACCCTCCTGCACCCTCAAAA	0.438000													19	84					1.67942e-08	1.98207e-08	0.175082	1	0
TET1	80312	broad.mit.edu	37	10	70450858	70450858	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:70450858G>T	ENST00000373644.4	+	12	5907	c.5698G>T	c.(5698-5700)Ggc>Tgc	p.G1900C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1900					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.G1900C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGATGGCCCTGGCATTTCACA	0.567000													16	122					2.23348e-06	2.50591e-06	0.146539	1	0
C1orf173	127254	broad.mit.edu	37	1	75042610	75042610	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:75042610T>A	ENST00000326665.5	-	13	2405	c.2187A>T	c.(2185-2187)tcA>tcT	p.S729S	C1orf173_ENST00000433746.2_Intron	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	729	Glu-rich.							p.S729S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAATGGCAATGAATCCTTTC	0.383000													10	107					0	0	0.069234	0	0
DENND1A	57706	broad.mit.edu	37	9	126641241	126641241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:126641241C>A	ENST00000373624.2	-	2	278	c.77G>T	c.(76-78)gGc>gTc	p.G26V	DENND1A_ENST00000394215.2_Missense_Mutation_p.A11S|DENND1A_ENST00000373618.1_Missense_Mutation_p.A11S|DENND1A_ENST00000373620.3_Missense_Mutation_p.G26V|DENND1A_ENST00000394219.3_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	26	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.G26V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGAAAGAGTGCCACCTGTCCT	0.373000													16	119					5.03518e-11	6.28746e-11	0.189662	1	0
OR4D9	390199	broad.mit.edu	37	11	59282792	59282792	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:59282792T>C	ENST00000329328.3	+	1	407	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATGACCATCATGAGTAGGGGG	0.537000													10	149					0	0	0.069234	0	0
OR2T10	127069	broad.mit.edu	37	1	248756948	248756948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248756948C>G	ENST00000330500.2	-	1	152	c.122G>C	c.(121-123)tGg>tCg	p.W41S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W41S(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAATATTCCAAGACACAGC	0.423000													33	38					0	0	0.163468	0	0
CSMD2	114784	broad.mit.edu	37	1	34209016	34209016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:34209016C>A	ENST00000373381.4	-	14	2214	c.2038G>T	c.(2038-2040)Gcc>Tcc	p.A680S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4.					integral to membrane|plasma membrane	protein binding	p.A640S(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCTCGGCGGTGGCCCCA	0.617000													17	162					1.67942e-08	1.98207e-08	0.175082	1	0
OCM2	4951	broad.mit.edu	37	7	97617832	97617832	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:97617832G>A	ENST00000257627.4	-	2	181	c.90C>T	c.(88-90)ttC>ttT	p.F30F	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	30							calcium ion binding			lung(4)	4						ACGTCTGGAAGAATTTTTGGG	0.468000													11	327					0	0	0.093190	0	0
LTBP3	4054	broad.mit.edu	37	11	65315462	65315462	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:65315462G>A	ENST00000301873.5	-	12	2043	c.1775C>T	c.(1774-1776)cCg>cTg	p.P592L	LTBP3_ENST00000532932.1_Missense_Mutation_p.P22L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P592L|LTBP3_ENST00000536982.1_Missense_Mutation_p.P218L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	592	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding	p.P592L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGGGGGCCCGGCACGCACTC	0.672000													10	64					0	0	0.080935	0	0
PLB1	151056	broad.mit.edu	37	2	28843772	28843772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28843772C>A	ENST00000422425.2	+	48	3465	c.3421C>A	c.(3421-3423)Ctc>Atc	p.L1141I	PLB1_ENST00000327757.5_Missense_Mutation_p.L1152I|PLB1_ENST00000541605.1_Missense_Mutation_p.L117I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1152	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L1141I(1)|p.L1152I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAACCCTTACCTCCTTGGCTT	0.552000													7	307					8.12818e-05	8.80797e-05	0.029380	1	0
APBB1	322	broad.mit.edu	37	11	6423312	6423312	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:6423312C>T	ENST00000389906.2	-	8	1481	c.1382_splice	c.e8+1	p.S461_splice	APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Splice_Site_p.R461_splice|APBB1_ENST00000533407.1_Splice_Site_p.R202_splice|APBB1_ENST00000299402.6_Splice_Site_p.R461_splice|APBB1_ENST00000530885.1_Splice_Site_p.R241_splice	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	461	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R461K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTATTCCCACCTTCCACTGTC	0.577000													7	67					0	0	0.038147	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95210624	95210624	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:95210624G>T	ENST00000354268.4	+	24	3093	c.3019_splice	c.e24-1	p.G1007_splice	SMARCAD1_ENST00000457823.2_Splice_Site_p.G1009_splice|SMARCAD1_ENST00000509418.1_Splice_Site_p.G577_splice			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1007	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1007V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCTACAGGTGATGAAGGG	0.308000													47	282					2.9001e-28	4.91508e-28	0.139131	1	0
CACNA1E	777	broad.mit.edu	37	1	181759585	181759585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:181759585G>T	ENST00000526775.1	+	43	5899	c.5734G>T	c.(5734-5736)Ggc>Tgc	p.G1912C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1863C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1882C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1538C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1931C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1931C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1912C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1931					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G1931C(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTCAGGAGTGGCCGGAGTGG	0.542000													13	54					3.8784e-16	5.4406e-16	0.062417	1	0
DEFB112	245915	broad.mit.edu	37	6	50011302	50011302	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:50011302C>T	ENST00000322246.4	-	2	327	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	110					defense response to bacterium	extracellular region		p.D110N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGACGTGAGTCTTTAGGGTAC	0.408000													20	77					0	0	0.055883	0	0
BRAT1	221927	broad.mit.edu	37	7	2582880	2582880	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:2582880T>C	ENST00000340611.4	-	6	1137	c.881A>G	c.(880-882)cAc>cGc	p.H294R		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	294					response to ionizing radiation	nucleus	protein binding	p.H294R(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGGTCCCATGTGGGTGGGACC	0.642000													26	134					0	0	0.099896	0	0
OBSCN	84033	broad.mit.edu	37	1	228523918	228523918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:228523918C>A	ENST00000570156.2	+	75	19429	c.19355C>A	c.(19354-19356)tCa>tAa	p.S6452*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S3129*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S2614*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S5495*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S5495*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5495					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.S6077*(2)|p.S6207*(2)|p.S5495*(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCCATCTCAGCACAGGGG	0.572000													45	166					6.31075e-24	1.01123e-23	0.139131	1	0
NLRP4	147945	broad.mit.edu	37	19	56369376	56369376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:56369376C>A	ENST00000301295.6	+	3	1039	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	NLRP4_ENST00000346986.5_Missense_Mutation_p.S206Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.S131Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	206	NACHT.						ATP binding	p.S206Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTTGATTTCCAGAGAGTGG	0.532000													55	140					1.41401e-22	2.21732e-22	0.139131	1	0
MSLN	10232	broad.mit.edu	37	16	815525	815525	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:815525A>T	ENST00000566549.1	+	9	1121		c.e9-1		MSLN_ENST00000382862.3_Splice_Site|MSLN_ENST00000563941.1_Splice_Site|MSLN_ENST00000545450.2_Splice_Site			Q13421	MSLN_HUMAN	mesothelin						cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		p.?(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGTCTGCACAGCCCCCCGTC	0.701000													16	37					0	0	0.160694	0	0
WDR27	253769	broad.mit.edu	37	6	170088913	170088913	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:170088913C>A	ENST00000333572.6	-	2	708	c.189_splice	c.e2+1	p.Q63_splice	WDR27_ENST00000420344.2_Splice_Site_p.Q63_splice|WDR27_ENST00000448612.1_Splice_Site_p.Q63_splice|WDR27_ENST00000423258.1_Splice_Site_p.Q63_splice			A2RRH5	WDR27_HUMAN	WD repeat domain 27	63								p.Q63H(6)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTCAATACCTGATGAGAAG	0.468000													57	149					1.47633e-17	2.13306e-17	0.139131	1	0
BIN2	51411	broad.mit.edu	37	12	51689596	51689596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:51689596C>G	ENST00000267012.4	-	9	806	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	BIN2_ENST00000544402.1_Missense_Mutation_p.V223L|BIN2_ENST00000604560.1_Missense_Mutation_p.V222L|BIN2_ENST00000452142.2_Missense_Mutation_p.V217L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	249						cytoplasm	protein binding	p.V249L(2)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTCCCTTCACCACAAAGACT	0.453000													108	214					0	0	0.139131	0	0
OR6B2	389090	broad.mit.edu	37	2	240969840	240969840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:240969840C>G	ENST00000402971.2	-	1	66	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G3R(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		ACATTCTCCCCACTCATGCCT	0.592000													15	43					0	0	0.119110	0	0
NXF1	10482	broad.mit.edu	37	11	62569274	62569274	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:62569274G>A	ENST00000531709.2	-	6	689	c.576C>T	c.(574-576)aaC>aaT	p.N192N	NXF1_ENST00000439713.2_Silent_p.N192N|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000294172.2_Silent_p.N192N|NXF1_ENST00000532297.1_Silent_p.N192N	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	192	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.N192N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGAAGAGTTGATGATGA	0.488000													63	192					0	0	0.139131	0	0
KLK4	9622	broad.mit.edu	37	19	51412025	51412025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51412025C>A	ENST00000324041.1	-	3	284	c.285G>T	c.(283-285)caG>caT	p.Q95H	KLK4_ENST00000431178.2_Missense_Mutation_p.Q46H	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	95	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.Q95H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCACCATCTGGCTCCCTG	0.602000													38	92					6.1244e-12	7.85932e-12	0.098360	1	0
FRY	10129	broad.mit.edu	37	13	32811626	32811626	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:32811626A>T	ENST00000380250.3	+	44	6417	c.5921A>T	c.(5920-5922)gAa>gTa	p.E1974V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.E1974V(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAACTGCCGAACGGAGCCGG	0.532000													8	59					0	0	0.080935	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213592	1213592	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:1213592C>A	ENST00000304460.10	+	5	734	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	226					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T226T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTACATCACCTCCACGCTGC	0.657000													28	90					5.60225e-13	7.36173e-13	0.144211	1	0
GPR112	139378	broad.mit.edu	37	X	135429796	135429796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:135429796C>T	ENST00000394143.1	+	6	4222	c.3931C>T	c.(3931-3933)Caa>Taa	p.Q1311*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1248*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1311*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q1311*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGTCACCAAACACATTC	0.443000													37	80					0	0	0.086207	0	0
XIST	7503	broad.mit.edu	37	X	73066574	73066574	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:73066574G>T	ENST00000429829.1	-	0	6014					NR_001564.2																						ACACATATTGGGAGGCCAAGA	0.468000													15	97					2.62699e-14	3.54482e-14	0.132662	1	0
KLHL1	57626	broad.mit.edu	37	13	70314575	70314575	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:70314575T>A	ENST00000377844.4	-	8	2512	c.1753A>T	c.(1753-1755)Agt>Tgt	p.S585C	KLHL1_ENST00000545028.1_Missense_Mutation_p.S392C	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	585					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S585C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTGACATACTGGCTACAAAT	0.403000													12	75					0	0	0.105934	0	0
ARSJ	79642	broad.mit.edu	37	4	114899799	114899799	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:114899799C>T	ENST00000315366.7	-	1	1058	c.192G>A	c.(190-192)gaG>gaA	p.E64E	ARSJ_ENST00000541197.1_Silent_p.E64E|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	64						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GCTCTAGTTTCTCTCCAGCTT	0.527000													5	211					0	0	0.184627	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405431	105405431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105405431G>T	ENST00000333244.5	-	7	16476	c.16357C>A	c.(16357-16359)Ctg>Atg	p.L5453M	AHNAK2_ENST00000557457.1_Missense_Mutation_p.L451M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5453						nucleus		p.L423M(1)|p.L5453M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAAAGGCAGGTTAAGGTCC	0.532000													4	14					0.000602214	0.000635993	0.184627	1	0
AADACL2	344752	broad.mit.edu	37	3	151474962	151474962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:151474962G>A	ENST00000356517.3	+	5	895	c.786G>A	c.(784-786)tgG>tgA	p.W262*	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	262						extracellular region|integral to membrane	carboxylesterase activity	p.W262*(2)|p.W240*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTTCCCTGGGCAATGAGAA	0.413000													73	191					0	0	0.139131	0	0
BRE	9577	broad.mit.edu	37	2	28464261	28464261	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28464261G>T	ENST00000344773.2	+	9	989		c.e9+1		BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000342045.2_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.?(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTTTGGCACGTAAGTTCTGC	0.438000													15	93					6.49762e-13	8.50123e-13	0.175082	1	0
KRT6A	3853	broad.mit.edu	37	12	52885477	52885477	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:52885477C>A	ENST00000330722.6	-	2	652	c.584G>T	c.(583-585)tGg>tTg	p.W195L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	195	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.W195L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGGGTCCACTTTGTTTC	0.522000													56	95					3.28156e-27	5.45417e-27	0.139131	1	0
PXDN	7837	broad.mit.edu	37	2	1653089	1653089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:1653089C>A	ENST00000252804.4	-	17	2513	c.2463G>T	c.(2461-2463)tgG>tgT	p.W821C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	821					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.W821C(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAACTGGCCCCACTGCATCA	0.662000													4	40					0.000602214	0.000635993	0.184627	1	0
PLCD4	84812	broad.mit.edu	37	2	219492945	219492945	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:219492945A>T	ENST00000450993.2	+	7	1305	c.966A>T	c.(964-966)ggA>ggT	p.G322G	PLCD4_ENST00000432688.1_Silent_p.G322G|PLCD4_ENST00000417849.1_Silent_p.G322G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G322G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGTCGAGGGATATATACGGT	0.512000													19	222					0	0	0.175082	0	0
COL3A1	1281	broad.mit.edu	37	2	189872628	189872628	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:189872628G>A	ENST00000304636.3	+	46	3551	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1127	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.Q1127Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGTCAGCAGGGTGCAATCG	0.463000													45	116					0	0	0.139131	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:114107681C>T	ENST00000375418.3	-	1	158	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.K24K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGCTGTTCTCCTTGCAGACAT	0.577000													13	73					0	0	0.093190	0	0
PCDH10	57575	broad.mit.edu	37	4	134084177	134084177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:134084177G>T	ENST00000264360.4	+	4	3669	c.2843G>T	c.(2842-2844)gGc>gTc	p.G948V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	948					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G948V(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAGCTCTGGGCCACTCAGAT	0.483000													32	120					1.56442e-22	2.43871e-22	0.163468	1	0
OR2C3	81472	broad.mit.edu	37	1	247695358	247695358	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:247695358C>T	ENST00000366487.3	-	2	817	c.456G>A	c.(454-456)ggG>ggA	p.G152G	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGTCAGACCCCCCAGCCAGG	0.562000													18	52					0	0	0.175082	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036699	58036699	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:58036699C>A	ENST00000556826.1	-	6	1170		c.e6-1		SLC35F4_ENST00000339762.6_Splice_Site|SLC35F4_ENST00000554729.1_Splice_Site	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.?(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAACAAGACCTGGAATGAGA	0.433000													7	29					5.4927e-09	6.54669e-09	0.047766	1	0
SPATA20	64847	broad.mit.edu	37	17	48627416	48627416	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:48627416G>C	ENST00000006658.6	+	8	1053	c.933G>C	c.(931-933)caG>caC	p.Q311H	SPATA20_ENST00000393244.3_Missense_Mutation_p.Q251H|SPATA20_ENST00000356488.4_Missense_Mutation_p.Q295H|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	295					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGGCCCAGCAGATGGCCTTGC	0.617000													11	632					0	0	0.069234	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866251	131866251	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:131866251G>A	ENST00000359827.3	-	18	4343	c.3381C>T	c.(3379-3381)tcC>tcT	p.S1127S	PLXNA4_ENST00000321063.4_Silent_p.S1127S			Q9HCM2	PLXA4_HUMAN	plexin A4	1127	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.S1127S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGAGCAGGGACTGGACGT	0.602000													40	231					0	0	0.092188	0	0
BLK	640	broad.mit.edu	37	8	11406563	11406563	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:11406563C>A	ENST00000259089.4	+	5	892	c.300C>A	c.(298-300)ctC>ctA	p.L100L	BLK_ENST00000529894.1_Silent_p.L29L	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	100	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L100L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCAGGTCACTCGTCACAGGAA	0.592000													4	16					0.150653	0.151787	0.150653	1	0
OR13C5	138799	broad.mit.edu	37	9	107361248	107361248	+	Missense_Mutation	SNP	C	C	A	rs141723124	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107361248C>A	ENST00000374779.2	-	1	540	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149C(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCCTATGATCCAGGACCCAG	0.458000													27	231					9.90768e-06	1.09731e-05	0.099896	1	0
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:166981296A>T	ENST00000061240.2	+	15	2610	c.1963A>T	c.(1963-1965)Aga>Tga	p.R655*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.R678*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	655	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R655*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCAGTACAGAATTTCTGT	0.418000													52	124					0	0	0.139131	0	0
ZNF831	128611	broad.mit.edu	37	20	57829002	57829002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:57829002C>G	ENST00000371030.2	+	5	4238	c.4238C>G	c.(4237-4239)aCt>aGt	p.T1413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1413						intracellular	nucleic acid binding|zinc ion binding	p.T1413S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCACAGCACTGCTGCCACA	0.498000													13	135					0	0	0.105934	0	0
SYT6	148281	broad.mit.edu	37	1	114640465	114640465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:114640465C>A	ENST00000393296.1	-	6	1476	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SYT6_ENST00000369547.1_Missense_Mutation_p.V382L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	467					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.V382L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGATCCCCACACGACAGACT	0.567000													23	184					7.16444e-05	7.78462e-05	0.091800	1	0
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:92101100G>T	ENST00000377067.3	+	2	621	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	83						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q83H(3)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGCTCGCCAGGATATGCAGC	0.438000													16	115					3.52763e-06	3.94322e-06	0.160694	1	0
SORCS3	22986	broad.mit.edu	37	10	106802840	106802840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:106802840C>G	ENST00000369701.3	+	5	1209	c.982C>G	c.(982-984)Cgg>Ggg	p.R328G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	328						integral to membrane	neuropeptide receptor activity	p.R328G(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTTGGAAGACGGTGGCAACT	0.438000													64	163					0	0	0.139131	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136384	220136384	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220136384T>C	ENST00000490341.1	+	0	854					NR_003063.1																						TGGCAGAGATTACCAATGCCT	0.552000													7	106					0	0	0.069234	0	0
BAGE2	85319	broad.mit.edu	37	21	11049486	11049486	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:11049486C>A	ENST00000470054.1	-	0	622									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATTGCCAACCTGCACG	0.448000													17	317					7.41877e-09	8.8257e-09	0.062417	1	0
PI4KB	5298	broad.mit.edu	37	1	151288658	151288658	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151288658C>A	ENST00000368875.2	-	3	916	c.336G>T	c.(334-336)gaG>gaT	p.E112D	PI4KB_ENST00000271657.5_Missense_Mutation_p.E112D|PI4KB_ENST00000368873.1_Missense_Mutation_p.E100D|PI4KB_ENST00000368872.1_Missense_Mutation_p.E100D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E100D|PI4KB_ENST00000529142.1_Intron	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	100					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.E112D(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCATCTTCCTCCTCCCTGA	0.577000													46	175					1.03325e-14	1.40368e-14	0.124865	1	0
BAG6	7917	broad.mit.edu	37	6	31614237	31614237	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:31614237G>C	ENST00000404765.2	-	8	1141	c.852C>G	c.(850-852)ctC>ctG	p.L284L	BAG6_ENST00000375976.4_Silent_p.L284L|BAG6_ENST00000211379.5_Silent_p.L284L|BAG6_ENST00000375964.6_Silent_p.L290L|BAG6_ENST00000439687.2_Silent_p.L284L|BAG6_ENST00000362049.6_Silent_p.L284L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	290	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.L284L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGAAGGGCTGGAGGCGACTCT	0.582000													9	127					0	0	0.047766	0	0
LCE3D	84648	broad.mit.edu	37	1	152552354	152552354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152552354T>A	ENST00000368787.3	-	2	115	c.59A>T	c.(58-60)aAg>aTg	p.K20M		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	20					keratinization			p.K20M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGGGACACTTGGGTGAGGG	0.602000													72	221					0	0	0.139131	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594437	11594437	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:11594437G>T	ENST00000294484.6	+	18	3513		c.e18-1		PTCHD2_ENST00000304391.6_Splice_Site|PTCHD2_ENST00000389575.3_Splice_Site	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2						cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.?(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTCCCCACAGACCACGTACA	0.627000													26	87					7.68411e-24	1.22641e-23	0.134883	1	0
BRWD3	254065	broad.mit.edu	37	X	79936970	79936970	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:79936970T>C	ENST00000373275.4	-	40	4740	c.4524A>G	c.(4522-4524)ctA>ctG	p.L1508L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1508								p.L1508L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAGTAGATATAGTGAAAGCC	0.378000													42	54					0	0	0.098360	0	0
ANO6	196527	broad.mit.edu	37	12	45810526	45810526	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:45810526C>T	ENST00000320560.8	+	17	2258	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.L686L|ANO6_ENST00000425752.2_Silent_p.L686L|ANO6_ENST00000441606.2_Silent_p.L668L|ANO6_ENST00000423947.3_Silent_p.L707L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	686					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.L686L(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCTTTTCCACTGGCCCCTCT	0.473000													48	76					0	0	0.139131	0	0
F13A1	2162	broad.mit.edu	37	6	6318869	6318869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:6318869C>T	ENST00000264870.3	-	2	294	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	10					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G10E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTTCTGCCTCCAAAGGCGGT	0.478000													91	309					0	0	0.139131	0	0
CIB4	130106	broad.mit.edu	37	2	26818175	26818175	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:26818175A>T	ENST00000288861.4	-	4	250	c.197T>A	c.(196-198)tTc>tAc	p.F66Y	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	66	EF-hand 1.						calcium ion binding	p.F66Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGTCTCTGAAAGGGTTGAC	0.562000													16	75					0	0	0.160694	0	0
OR2L3	391192	broad.mit.edu	37	1	248224532	248224532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248224532G>A	ENST00000359959.3	+	1	549	c.549G>A	c.(547-549)atG>atA	p.M183I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M183I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCCAGCAATGGTGACTCTGG	0.463000													64	294					0	0	0.139131	0	0
RBM44	375316	broad.mit.edu	37	2	238726701	238726701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:238726701C>T	ENST00000316997.4	+	3	1274	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RBM44_ENST00000409864.1_Missense_Mutation_p.S381F|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	380							nucleotide binding|RNA binding	p.S381F(4)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTCAAACTTCCTGGACCTCT	0.378000													27	79					0	0	0.116897	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979967	145979967	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:145979967A>C	ENST00000394413.3	-	7	1417	c.847T>G	c.(847-849)Tcg>Gcg	p.S283A	PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S283A|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S341A|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S283A|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S349A|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S283A|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S286A|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S289A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.S283A(1)|p.S341A(1)|p.S286A(1)|p.S272A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGAAATCGAAGAGATAATT	0.423000													4	143					0	0	0.150653	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817990	22817990	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:22817990A>G	ENST00000404138.1	+	4	1306	c.795A>G	c.(793-795)ctA>ctG	p.L265L	ZBTB40_ENST00000375647.4_Silent_p.L265L|ZBTB40_ENST00000374651.4_Silent_p.L265L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L265L(2)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TAAAAAAACTAGAAATGTGTT	0.378000													49	148					0	0	0.139131	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995285	140995285	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:140995285C>A	ENST00000285879.4	+	4	2381	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	699							protein binding	p.L699I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTCCTCTTGAGGGAGA	0.562000										HNSCC(15;0.026)			79	75					4.49761e-31	7.84316e-31	0.139131	1	0
ESR1	2099	broad.mit.edu	37	6	152265375	152265375	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:152265375C>A	ENST00000440973.1	+	6	1198	c.828C>A	c.(826-828)ggC>ggA	p.G276G	ESR1_ENST00000443427.1_Silent_p.G276G|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000206249.3_Silent_p.G276G|ESR1_ENST00000544394.1_Silent_p.G103G|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000338799.5_Silent_p.G276G	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	276	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.G276G(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATGGGGAGGGCAGGGGTGAAG	0.507000													56	135					4.88506e-25	7.93328e-25	0.139131	1	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:98188534C>G	ENST00000332650.5	+	1	211	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433000													105	336					0	0	0.139131	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452						integral to membrane		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358000													18	133					7.07596e-05	7.69543e-05	0.175082	1	0
EPHA10	284656	broad.mit.edu	37	1	38201007	38201007	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:38201007G>A	ENST00000373048.4	-	6	1412	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S	EPHA10_ENST00000330210.7_5'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_5'UTR|EPHA10_ENST00000427468.2_Silent_p.S471S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	471	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.S472S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCACGACAGGGACACGCTCT	0.622000													3	10					0	0	0.115264	0	0
UNC13C	440279	broad.mit.edu	37	15	54307745	54307745	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:54307745T>A	ENST00000545554.1	+	1	2645	c.2645T>A	c.(2644-2646)aTg>aAg	p.M882K	UNC13C_ENST00000537900.1_Missense_Mutation_p.M882K|UNC13C_ENST00000260323.11_Missense_Mutation_p.M882K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	882					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.M882K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTGAAGTCATGGAACAAGTC	0.378000													47	100					0	0	0.117977	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204252	151204252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151204252G>T	ENST00000409426.1	+	4	752	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V102L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V103L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.V115L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	115	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.V115L(2)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATTTCTACGTGGTTGAGAG	0.488000													63	170					3.94839e-29	6.73911e-29	0.139131	1	0
REV1	51455	broad.mit.edu	37	2	100058928	100058928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:100058928G>C	ENST00000258428.3	-	5	582	c.354C>G	c.(352-354)atC>atG	p.I118M	REV1_ENST00000393445.3_Missense_Mutation_p.I118M|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	118	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I118M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCAGCTTTGATGCTGAAAC	0.413000								Direct reversal of damage					8	166					0	0	0.069234	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413146	121413146	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:121413146C>T	ENST00000393667.3	-	13	6334	c.6224G>A	c.(6223-6225)cGc>cAc	p.R2075H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2070H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2070					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCCTTTTTGCGGTGTTCAAC	0.403000													6	271					0	0	0.029380	0	0
TRBV27	28560	broad.mit.edu	37	7	142423595	142423595	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142423595A>G	ENST00000506718.1	+	0	603				TRBV27_ENST00000390399.3_RNA																							GAAGGGTACAAAGTCTCTCGA	0.502000													6	116					0	0	0.029380	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237364	84237364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:84237364G>A	ENST00000324537.5	+	7	787	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	SH3GL3_ENST00000427482.2_Missense_Mutation_p.G91S|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G99S|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G91S			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	91	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G99S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCAGACGGAAGGCTTGCTGGG	0.517000													7	115					0	0	0.047766	0	0
ZNF322	79692	broad.mit.edu	37	6	26637670	26637670	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:26637670G>T	ENST00000415922.2	-	4	1757	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF322_ENST00000471278.1_Missense_Mutation_p.T371K	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.T371K(1)									AATGTGTACTGTCTGATGTTG	0.438000													15	594					4.14922e-12	5.33028e-12	0.146539	1	0
ELF2	1998	broad.mit.edu	37	4	139988852	139988852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:139988852G>C	ENST00000394235.2	-	7	1065	c.563C>G	c.(562-564)cCa>cGa	p.P188R	ELF2_ENST00000379549.2_Intron|ELF2_ENST00000265495.4_Missense_Mutation_p.P188R|ELF2_ENST00000510408.1_Missense_Mutation_p.P128R|ELF2_ENST00000379550.1_Missense_Mutation_p.P200R|ELF2_ENST00000358635.3_Missense_Mutation_p.P140R	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	200					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P188R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TCCTTCTCTTGGTTTCTTCTT	0.358000													31	207					0	0	0.173368	0	0
GRM3	2913	broad.mit.edu	37	7	86415735	86415735	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:86415735C>T	ENST00000361669.2	+	3	1726	c.627C>T	c.(625-627)aaC>aaT	p.N209N	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.N81N|GRM3_ENST00000439827.1_Silent_p.N209N|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Silent_p.N207N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	209					synaptic transmission	integral to plasma membrane		p.N209N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCTTCTTCAACTGGACCTACG	0.572000													22	143					0	0	0.069288	0	0
WARS2	10352	broad.mit.edu	37	1	119619185	119619185	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:119619185T>C	ENST00000369426.5	-	2	139	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	WARS2_ENST00000235521.4_Missense_Mutation_p.I46V|WARS2_ENST00000537870.1_5'UTR			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	46					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.I46V(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AGGTGGAGGATTCCTGTAGGT	0.448000													63	311					0	0	0.139131	0	0
BNIP2	663	broad.mit.edu	37	15	59961504	59961504	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:59961504T>A	ENST00000267859.3	-	8	1221	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	BNIP2_ENST00000415213.2_Silent_p.T317T|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000607373.1_Silent_p.T255T			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	255					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	p.T255T(2)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAGCCAGAAGTGTTCTGATAA	0.264000													28	72					0	0	0.203993	0	0
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:21424254C>A	ENST00000304625.2	+	2	414	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418000													20	149					8.04996e-18	1.17011e-17	0.062417	1	0
LIPK	643414	broad.mit.edu	37	10	90486557	90486557	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:90486557G>C	ENST00000404190.1	+	2	111	c.111G>C	c.(109-111)caG>caC	p.Q37H		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	37					lipid catabolic process	extracellular region	hydrolase activity	p.Q37H(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTAGAGCCAGATTATTTCTT	0.313000													11	15					0	0	0.093190	0	0
C9orf64	84267	broad.mit.edu	37	9	86570403	86570403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:86570403C>A	ENST00000376344.3	-	2	706	c.490G>T	c.(490-492)Gga>Tga	p.G164*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.G23*|C9orf64_ENST00000376340.2_Nonsense_Mutation_p.G23*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	164								p.G164*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAAGAGCCTCCAAACTTCTCC	0.443000													48	136					1.51926e-22	2.37445e-22	0.139131	1	0
RGS22	26166	broad.mit.edu	37	8	101051164	101051164	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:101051164C>T	ENST00000360863.6	-	14	2355	c.2161G>A	c.(2161-2163)Gcg>Acg	p.A721T	RGS22_ENST00000523437.1_Missense_Mutation_p.A709T|RGS22_ENST00000523287.1_Missense_Mutation_p.A540T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	721					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CGTACTTGCGCTTGCTTGCAT	0.403000													8	115					0	0	0.058154	0	0
SCN4A	6329	broad.mit.edu	37	17	62018710	62018710	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:62018710C>G	ENST00000435607.1	-	24	5008	c.4932G>C	c.(4930-4932)gtG>gtC	p.V1644V	SCN4A_ENST00000578147.1_Silent_p.V1644V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1644V(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCAGGGTGTCCACGAAGTCTG	0.567000													25	104					0	0	0.108266	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145419	44145419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:44145419C>G	ENST00000260665.7	-	28	3072	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1005					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.Q1005H(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGGAACTTCCTGGTTACCCT	0.338000													40	117					0	0	0.117977	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412161	43412161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:43412161G>T	ENST00000310826.5	-	3	2227	c.2044C>A	c.(2044-2046)Ctc>Atc	p.L682I	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L682I|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L682I	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.L682I(2)									AATTGAGAGAGAAAGCGGTAC	0.433000													32	289					5.60225e-13	7.36173e-13	0.144211	1	0
UMOD	7369	broad.mit.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20360484C>A	ENST00000396134.2	-	4	361	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	UMOD_ENST00000570689.1_Missense_Mutation_p.V47F|UMOD_ENST00000302509.4_Missense_Mutation_p.V47F|UMOD_ENST00000424589.1_Missense_Mutation_p.V80F|UMOD_ENST00000396138.4_Missense_Mutation_p.V96F|UMOD_ENST00000396142.2_Missense_Mutation_p.V47F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	47	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612000													12	58					2.23348e-06	2.50591e-06	0.146539	1	0
KIAA2018	205717	broad.mit.edu	37	3	113375768	113375768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:113375768G>T	ENST00000316407.4	-	7	5171	c.4761C>A	c.(4759-4761)aaC>aaA	p.N1587K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1587K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1587	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.N1587K(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTTATGATGGTTCCGACTAG	0.478000													31	81					7.26314e-15	9.88936e-15	0.125774	1	0
DUSP22	56940	broad.mit.edu	37	6	348110	348110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:348110G>T	ENST00000419235.2	+	6	349	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.G91W|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	91	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G91W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGCCTGGCCGGGGTCTCCAG	0.602000													18	286					2.89027e-11	3.63167e-11	0.069288	1	0
PKLR	5313	broad.mit.edu	37	1	155264362	155264362	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:155264362G>A	ENST00000392414.3	-	6	896	c.783C>T	c.(781-783)agC>agT	p.S261S	PKLR_ENST00000342741.4_Silent_p.S292S	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	292					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.S292S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGCCACGTCGCTGGCTTTCC	0.612000													6	146					0	0	0.047766	0	0
TXK	7294	broad.mit.edu	37	4	48114498	48114498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:48114498C>T	ENST00000264316.4	-	4	291	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R69Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAGTGGCTTTCGTTTTGACGG	0.433000													17	234					0	0	0.189662	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718254	103718254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:103718254C>A	ENST00000245312.3	-	1	942	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	116					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.A116S(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCAATAGGCCAAGATATTG	0.507000													14	138					6.31663e-08	7.35414e-08	0.132662	1	0
DUOX1	53905	broad.mit.edu	37	15	45444142	45444142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:45444142C>A	ENST00000321429.4	+	25	3492	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	DUOX1_ENST00000561166.1_Missense_Mutation_p.Q675K|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1029K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1029	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.Q1029K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGTCTCCACCAGACGGTGCA	0.587000													31	81					4.15321e-07	4.73474e-07	0.144211	1	0
TBX3	6926	broad.mit.edu	37	12	115114148	115114148	+	Missense_Mutation	SNP	C	C	A	rs140580685	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:115114148C>A	ENST00000349155.2	-	5	1972	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	TBX3_ENST00000257566.3_Missense_Mutation_p.A357S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	357					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.A357S(2)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACAGTGGAGGCGGCTGGAGAA	0.522000													58	77					2.5401e-28	4.31101e-28	0.139131	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863699	64863699	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:64863699C>A	ENST00000313349.3	-	2	604	c.307G>T	c.(307-309)Gcc>Tcc	p.A103S	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	103					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.A103S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GCCGGCGGGGCCTCTCGGTAG	0.697000													6	42					8.12818e-05	8.80797e-05	0.029380	1	0
OR2J2	26707	broad.mit.edu	37	6	29141790	29141790	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:29141790T>C	ENST00000377167.2	+	1	480	c.378T>C	c.(376-378)gcT>gcC	p.A126A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A126A(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTATGTAGCTGTGTGTAGAC	0.453000													104	480					0	0	0.139131	0	0
CDH1	999	broad.mit.edu	37	16	68849475	68849475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:68849475G>T	ENST00000261769.5	+	10	1569	c.1378G>T	c.(1378-1380)Gta>Tta	p.V460L	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.V399L	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	460	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.V460L(2)|p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACGAATGTGGTACCTTTTGA	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				32	128					9.65021e-13	1.25986e-12	0.153744	1	0
EPX	8288	broad.mit.edu	37	17	56270730	56270730	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:56270730A>T	ENST00000225371.5	+	3	280		c.e3-1			NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase						hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.?(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCTCCTGGGCAGCATCAAGCA	0.637000													67	299					0	0	0.139131	0	0
TG	7038	broad.mit.edu	37	8	134125713	134125713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:134125713C>A	ENST00000220616.4	+	44	7660	c.7620C>A	c.(7618-7620)taC>taA	p.Y2540*	TG_ENST00000519543.1_Nonsense_Mutation_p.Y673*|TG_ENST00000377869.1_Nonsense_Mutation_p.Y2483*|TG_ENST00000542445.1_Nonsense_Mutation_p.Y910*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2540					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Y2540*(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCCTTTTACCAGGCACTGC	0.488000													84	113					3.29526e-42	6.17541e-42	0.139131	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525673	176525673	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:176525673C>G	ENST00000367662.3	+	2	1379	c.215C>G	c.(214-216)cCc>cGc	p.P72R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P72R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	72					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P72R(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGTCTACCCCAGCAGGGCT	0.557000													102	404					0	0	0.139131	0	0
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:25014018G>A	ENST00000382114.4	-	7	944	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253						extracellular region		p.N253N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCACCATGCAGTTCTCCATGC	0.468000													48	238					0	0	0.139131	0	0
AUTS2	26053	broad.mit.edu	37	7	70228278	70228278	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:70228278C>A	ENST00000342771.4	+	7	1486	c.1165C>A	c.(1165-1167)Cag>Aag	p.Q389K	AUTS2_ENST00000406775.2_Missense_Mutation_p.Q389K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	389	Ser-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGCCTCTCCCAGCCATTGTC	0.602000													6	109					0.00198382	0.00206612	0.029380	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140553818C>A	ENST00000231137.3	+	1	1576	c.1402C>A	c.(1402-1404)Ctg>Atg	p.L468M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632000													35	112					1.48341e-19	2.23998e-19	0.139131	1	0
CCDC63	160762	broad.mit.edu	37	12	111336809	111336809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:111336809G>T	ENST00000308208.5	+	10	1464	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	CCDC63_ENST00000545036.1_Missense_Mutation_p.D368Y|CCDC63_ENST00000552694.1_Missense_Mutation_p.D329Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	408								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAGACCTTGGATCTATTGAA	0.507000													76	88					1.3913e-53	2.68242e-53	0.139131	1	0
PLB1	151056	broad.mit.edu	37	2	28855858	28855858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:28855858C>A	ENST00000422425.2	+	55	4061	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	PLB1_ENST00000327757.5_Missense_Mutation_p.F1350L|PLB1_ENST00000541605.1_Missense_Mutation_p.F315L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1350	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.F1339L(2)|p.F1350L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTTTCACTTCTCAGACCGCG	0.562000													22	188					2.89027e-11	3.63167e-11	0.069288	1	0
OR2G6	391211	broad.mit.edu	37	1	248685280	248685280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248685280G>A	ENST00000343414.4	+	1	365	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCGTCTGAGTGTATTCTCT	0.552000													10	214					0	0	0.080935	0	0
ZNF713	349075	broad.mit.edu	37	7	55991322	55991322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:55991322G>T	ENST00000429591.2	+	3	236	c.198G>T	c.(196-198)gaG>gaT	p.E66D	MRPS17_ENST00000426595.1_Missense_Mutation_p.E66D|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E66D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			gtaagccaGAGGTAATCGCGC	0.453000													11	36					1.08611e-07	1.25721e-07	0.080935	1	0
DYRK4	8798	broad.mit.edu	37	12	4722693	4722693	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:4722693A>G	ENST00000540757.2	+	13	1497	c.1337A>G	c.(1336-1338)aAa>aGa	p.K446R	DYRK4_ENST00000010132.5_Missense_Mutation_p.K446R|DYRK4_ENST00000543431.1_Missense_Mutation_p.K445R|DYRK4_ENST00000545342.1_Missense_Mutation_p.K83R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	446						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K847R(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GAGATCACCAAAGAGACTACA	0.438000													18	64					0	0	0.189662	0	0
MAST4	375449	broad.mit.edu	37	5	66462418	66462418	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:66462418G>A	ENST00000404260.3	+	29	7728	c.7420G>A	c.(7420-7422)Gga>Aga	p.G2474R	MAST4_ENST00000403666.1_Missense_Mutation_p.G2282R|MAST4_ENST00000403625.2_Missense_Mutation_p.G2471R|MAST4_ENST00000261569.7_Missense_Mutation_p.G2277R|MAST4_ENST00000405643.1_Missense_Mutation_p.G2292R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2474						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCAGGGCCGGAGTTAGAGA	0.632000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	0.115264	0	0
RP1L1	94137	broad.mit.edu	37	8	10469886	10469886	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:10469886G>T	ENST00000382483.3	-	4	1945	c.1722C>A	c.(1720-1722)ccC>ccA	p.P574P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	574					intracellular signal transduction			p.P574P(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGAGAAGCGGGGTCGCCTC	0.652000													30	192					2.65835e-16	3.75095e-16	0.125774	1	0
TOPORS	10210	broad.mit.edu	37	9	32544246	32544246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:32544246C>G	ENST00000360538.2	-	3	393	c.277G>C	c.(277-279)Gta>Cta	p.V93L	TOPORS_ENST00000379858.1_Missense_Mutation_p.V28L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.V93L(2)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAGCTGGTACTGTCTGTTGC	0.373000													15	157					0	0	0.160694	0	0
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:27196029C>G	ENST00000242159.3	-	1	269	c.136G>C	c.(136-138)Gcc>Ccc	p.A46P		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622000													20	103					0	0	0.083992	0	0
SLC10A7	84068	broad.mit.edu	37	4	147425062	147425062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:147425062C>A	ENST00000432059.2	-	4	581	c.335G>T	c.(334-336)gGt>gTt	p.G112V	SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.G112V|SLC10A7_ENST00000264986.3_Missense_Mutation_p.R66S|SLC10A7_ENST00000511374.1_Missense_Mutation_p.R66S|SLC10A7_ENST00000394062.3_Missense_Mutation_p.G112V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.G112V|SLC10A7_ENST00000394059.4_Missense_Mutation_p.G112V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	112						integral to membrane	bile acid:sodium symporter activity	p.G112V(4)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGGCATGCAACCTACTGTCTG	0.373000													24	72					3.6726e-16	5.16393e-16	0.091800	1	0
SLC5A11	115584	broad.mit.edu	37	16	24895432	24895432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24895432C>T	ENST00000347898.3	+	8	1266	c.644C>T	c.(643-645)gCg>gTg	p.A215V	SLC5A11_ENST00000539472.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A151V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A180V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A180V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A151V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	215					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.A215V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTATAGGAGCGCTCACCTTG	0.592000													69	346					0	0	0.139131	0	0
DAPK3	1613	broad.mit.edu	37	19	3960090	3960090	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:3960090G>C	ENST00000545797.2	-	8	1038	c.795C>G	c.(793-795)acC>acG	p.T265T	DAPK3_ENST00000301264.3_Silent_p.T265T			O43293	DAPK3_HUMAN	death-associated protein kinase 3	265	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGGCAATGGTCATTCTCC	0.637000													14	430					0	0	0.132662	0	0
OGN	4969	broad.mit.edu	37	9	95165620	95165620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:95165620G>T	ENST00000262551.4	-	2	490	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.Q24K	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	24						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAGTCCTGCTGGGTTGGTGGT	0.383000													21	65					1.9806e-07	2.28166e-07	0.069288	1	0
UGDH	7358	broad.mit.edu	37	4	39515801	39515801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:39515801C>A	ENST00000316423.6	-	3	508	c.166G>T	c.(166-168)Gga>Tga	p.G56*	UGDH_ENST00000501493.2_Nonsense_Mutation_p.G56*|UGDH_ENST00000507089.1_De_novo_Start_OutOfFrame|UGDH_ENST00000506179.1_Nonsense_Mutation_p.G56*|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	56					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.G56*(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TCTTTTAGTCCTGGCTAAAAA	0.313000													29	171					7.01153e-11	8.7282e-11	0.125774	1	0
CNTN6	27255	broad.mit.edu	37	3	1415642	1415642	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:1415642A>C	ENST00000446702.2	+	16	2607	c.1980A>C	c.(1978-1980)gcA>gcC	p.A660A	CNTN6_ENST00000350110.2_Silent_p.A660A|CNTN6_ENST00000539053.1_Silent_p.A588A			Q9UQ52	CNTN6_HUMAN	contactin 6	660	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.A660A(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATACAATGCAACAGTGGTTG	0.388000													25	81					0	0	0.116897	0	0
C4orf22	255119	broad.mit.edu	37	4	81866088	81866088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:81866088C>A	ENST00000358105.3	+	5	650	c.601C>A	c.(601-603)Cca>Aca	p.P201T	C4orf22_ENST00000508675.1_Missense_Mutation_p.P218T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	201								p.P201T(2)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TAATGTGGACCCAAAGGTAAT	0.323000													26	127					6.00712e-18	8.78469e-18	0.163468	1	0
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:10822872G>C	ENST00000250237.5	+	6	692	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617000													56	125					0	0	0.139131	0	0
F8	2157	broad.mit.edu	37	X	154157069	154157069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:154157069G>A	ENST00000360256.4	-	14	5196	c.4996C>T	c.(4996-4998)Caa>Taa	p.Q1666*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1666	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q1666*(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTTCCCGTTGATGGCGTTTC	0.408000													11	121					0	0	0.069234	0	0
RBM47	54502	broad.mit.edu	37	4	40440430	40440430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:40440430T>A	ENST00000319592.4	-	4	1190	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.M161L|RBM47_ENST00000514014.1_Missense_Mutation_p.M123L|RBM47_ENST00000381793.2_Missense_Mutation_p.M161L|RBM47_ENST00000295971.7_Missense_Mutation_p.M161L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	161	RRM 2.					nucleus	nucleotide binding|RNA binding	p.M161L(6)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTTCTTCATCTTGGGGATC	0.627000													34	82					0	0	0.203993	0	0
OR52K1	390036	broad.mit.edu	37	11	4510989	4510989	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4510989C>G	ENST00000307632.3	+	1	881	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTTTCCCACCCATGGTCAA	0.463000													66	235					0	0	0.139131	0	0
HDHD1	8226	broad.mit.edu	37	X	6995465	6995465	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:6995465C>A	ENST00000381077.5	-	3	382	c.306G>T	c.(304-306)ctG>ctT	p.L102L	HDHD1_ENST00000540122.1_Silent_p.L102L|HDHD1_ENST00000424830.2_Silent_p.L125L|HDHD1_ENST00000412827.2_Silent_p.L59L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	102					nucleotide metabolic process		metal ion binding|phosphatase activity	p.L88L(2)		breast(2)|large_intestine(1)|lung(3)	6						CATGTTTCCGCAGGTGGATGA	0.592000													14	19					7.93312e-07	8.99286e-07	0.119110	1	0
LRIT2	340745	broad.mit.edu	37	10	85982089	85982089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:85982089C>A	ENST00000372113.4	-	3	1245	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.G424*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTATTGATTCCGGGGCCAATG	0.557000													101	142					2.18974e-44	4.1423e-44	0.139131	1	0
GTF3C1	2975	broad.mit.edu	37	16	27540011	27540011	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:27540011T>A	ENST00000356183.4	-	6	896	c.881A>T	c.(880-882)tAc>tTc	p.Y294F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y294F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	294						transcription factor TFIIIC complex	DNA binding|protein binding	p.Y294F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATATACTGGTACAGACGCTT	0.453000													17	343					0	0	0.189662	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811918	56811918	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:56811918C>A	ENST00000229201.4	-	27	3605	c.3451_splice	c.e27+1	p.E1151_splice	TIMELESS_ENST00000554616.1_Splice_Site_p.E649_splice|TIMELESS_ENST00000553532.1_Splice_Site_p.E1152_splice	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1152					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.E1152*(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCACTATTACCCTCTGGGGAT	0.532000													282	352					2.4986e-114	4.96833e-114	0.139131	1	0
C9orf72	203228	broad.mit.edu	37	9	27566700	27566700	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:27566700C>T	ENST00000380003.3	-	2	482	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Missense_Mutation_p.R140Q	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	140										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TCTTCCTTTCCGGATTATATG	0.338000													4	131					0	0	0.150653	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769244	25769244	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:25769244C>A	ENST00000377905.4	+	3	242	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Silent_p.L41L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	41					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.L41L(2)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCCCTCATCTTGCAGC	0.468000													28	104					3.73988e-18	5.48243e-18	0.116897	1	0
PRRC2C	23215	broad.mit.edu	37	1	171482234	171482234	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:171482234C>G	ENST00000367742.3	+	3	455	c.213C>G	c.(211-213)ggC>ggG	p.G71G	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000338920.4_Silent_p.G69G|PRRC2C_ENST00000392078.3_Silent_p.G71G|PRRC2C_ENST00000426496.2_Silent_p.G69G			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	69							protein C-terminus binding	p.G71G(2)									AAAACAAAGGCAATGATCCTA	0.423000													4	121					0	0	0.150653	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54872616	54872616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:54872616G>T	ENST00000474759.1	+	16	1540	c.1492G>T	c.(1492-1494)Gga>Tga	p.G498*	CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.G498*|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.G404*|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.G498*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	498	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CATTCTTCTGGGAGTGGTTGG	0.383000													14	213					1.02788e-11	1.31208e-11	0.160694	1	0
BRINP3	339479	broad.mit.edu	37	1	190067423	190067423	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:190067423C>G	ENST00000367462.3	-	8	2257	c.2026G>C	c.(2026-2028)Gac>Cac	p.D676H	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.D574H	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		676						extracellular region		p.D676H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTTCAGGGTCAAAGTGCATG	0.458000													61	227					0	0	0.139131	0	0
OR6K2	81448	broad.mit.edu	37	1	158670253	158670253	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158670253T>A	ENST00000359610.2	-	1	233	c.190A>T	c.(190-192)Agt>Tgt	p.S64C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAAAGAGCACTGATAAAAGTA	0.438000													44	116					0	0	0.104719	0	0
PTPN5	84867	broad.mit.edu	37	11	18754824	18754824	+	Silent	SNP	C	C	A	rs116891792	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:18754824C>A	ENST00000396170.1	-	11	2344	c.1080G>T	c.(1078-1080)acG>acT	p.T360T	PTPN5_ENST00000396171.4_Silent_p.T392T|PTPN5_ENST00000477854.1_Silent_p.T196T|PTPN5_ENST00000396168.1_Silent_p.T368T|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Silent_p.T360T|PTPN5_ENST00000358540.2_Silent_p.T392T	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	392	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.T392T(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAATGATGGGCGTGTGCTCCT	0.577000													22	90					1.55469e-16	2.20401e-16	0.083992	1	0
FRMPD2	143162	broad.mit.edu	37	10	49450216	49450216	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:49450216A>T	ENST00000374201.3	-	5	857	c.555T>A	c.(553-555)ggT>ggA	p.G185G	FRMPD2_ENST00000305531.3_Silent_p.G161G|FRMPD2_ENST00000407470.4_Silent_p.G154G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	185	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G185G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAATGGTACCCAGAACCA	0.448000													12	233					0	0	0.105934	0	0
RNH1	6050	broad.mit.edu	37	11	494979	494979	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:494979C>G	ENST00000534797.1	-	8	2609	c.1202G>C	c.(1201-1203)cGt>cCt	p.R401P	RNH1_ENST00000397604.3_Missense_Mutation_p.R401P|RNH1_ENST00000356187.5_Missense_Mutation_p.R401P|RNH1_ENST00000354420.2_Missense_Mutation_p.R401P|RNH1_ENST00000438658.2_Missense_Mutation_p.R401P|RNH1_ENST00000397614.1_Missense_Mutation_p.R401P|RNH1_ENST00000397615.2_Missense_Mutation_p.R401P|RNH1_ENST00000533410.1_Missense_Mutation_p.R401P			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	401					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	p.R401P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCAGCTCACGCAGGCTGTG	0.672000													3	11					0	0	0.115264	0	0
C1orf116	79098	broad.mit.edu	37	1	207195442	207195442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:207195442G>T	ENST00000359470.5	-	4	1916	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	C1orf116_ENST00000461135.2_Missense_Mutation_p.S310Y	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	556						cytoplasm|plasma membrane	receptor activity	p.S556Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CAGGCGCTTGGAGCTCTGCTC	0.597000													7	97					1.26484e-09	1.53488e-09	0.038147	1	0
OR9G4	283189	broad.mit.edu	37	11	56510307	56510307	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:56510307T>C	ENST00000302957.3	-	1	980	c.981A>G	c.(979-981)acA>acG	p.T327T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T327T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACCTTCATGTTTGTGGTT	0.363000													24	191					0	0	0.116897	0	0
NID1	4811	broad.mit.edu	37	1	236201439	236201439	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:236201439C>A	ENST00000264187.6	-	5	1332	c.1250G>T	c.(1249-1251)gGc>gTc	p.G417V	NID1_ENST00000366595.3_Missense_Mutation_p.G417V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	417	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G417V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCCCGTATAGCCAGCGACACA	0.542000													57	175					6.176e-18	9.0207e-18	0.139131	1	0
FAM83C	128876	broad.mit.edu	37	20	33876672	33876672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:33876672G>T	ENST00000374408.3	-	2	699	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	201								p.Y201*(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGAGCAGGTACACAGGGA	0.602000													58	120					1.20869e-33	2.18035e-33	0.139131	1	0
HP1BP3	50809	broad.mit.edu	37	1	21074086	21074086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:21074086C>A	ENST00000375003.2	-	7	2248	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402W			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AACCCTTTCCCAGAGATCTGT	0.368000													11	119					0.000219431	0.000235035	0.119110	1	0
TRAM1	23471	broad.mit.edu	37	8	71512306	71512306	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:71512306T>A	ENST00000521425.1	-	0	913				TRAM1_ENST00000536748.1_Missense_Mutation_p.K14N|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.K45N			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.K45N(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGATAGAAGCTTTTGCCGTTA	0.368000													36	65					0	0	0.086207	0	0
CARD11	84433	broad.mit.edu	37	7	2985553	2985553	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:2985553C>A	ENST00000396946.4	-	4	661	c.258G>T	c.(256-258)agG>agT	p.R86S	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	86	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R79S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCACATAGCCCCTTTGCCCCT	0.493000			Mis		DLBCL								70	448					3.82405e-32	6.77644e-32	0.139131	1	0
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592000										HNSCC(7;0.00092)			99	171					8.84886e-50	1.68984e-49	0.139131	1	0
ZNF268	10795	broad.mit.edu	37	12	133779409	133779409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:133779409G>T	ENST00000536435.2	+	6	1467	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.Q218H|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.Q379H|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	379						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTCACACCAGAAAACTCATT	0.388000													19	23					2.35188e-11	2.98004e-11	0.175082	1	0
OTP	23440	broad.mit.edu	37	5	76926342	76926342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:76926342G>T	ENST00000306422.3	-	3	1863	c.725C>A	c.(724-726)gCg>gAg	p.A242E		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A242E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CGGACCGGCCGCCAGGCTGCA	0.746000													3	8					6.4e-05	6.96811e-05	0.115264	1	0
HEPH	9843	broad.mit.edu	37	X	65417580	65417580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:65417580G>T	ENST00000519389.1	+	10	1898	c.1719G>T	c.(1717-1719)tgG>tgT	p.W573C	HEPH_ENST00000336279.5_Missense_Mutation_p.W252C|HEPH_ENST00000374727.3_Missense_Mutation_p.W522C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.W522C|HEPH_ENST00000343002.2_Missense_Mutation_p.W519C			Q9BQS7	HEPH_HUMAN	hephaestin	519	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.W519C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATACCGCTGGACAGTCCCCC	0.488000													24	45					2.50493e-22	3.8998e-22	0.099896	1	0
C10orf12	26148	broad.mit.edu	37	10	98743749	98743749	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98743749T>A	ENST00000286067.2	+	1	2709	c.2602T>A	c.(2602-2604)Ttt>Att	p.F868I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	868								p.F868I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATGACAAACTTTAAATTATC	0.398000													7	115					0	0	0.029380	0	0
DICER1	23405	broad.mit.edu	37	14	95573945	95573945	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:95573945C>T	ENST00000526495.1	-	19	3095	c.2804_splice	c.e19+1	p.R935_splice	DICER1_ENST00000393063.1_Splice_Site_p.R935_splice|DICER1_ENST00000527414.1_Splice_Site_p.R935_splice|DICER1_ENST00000343455.3_Splice_Site_p.R935_splice|DICER1_ENST00000541352.1_Splice_Site_p.R935_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	935	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R935K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATACCTACCTTGGAATGAT	0.418000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				11	174					0	0	0.093190	0	0
CD6	923	broad.mit.edu	37	11	60781463	60781463	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:60781463T>C	ENST00000313421.7	+	8	1550	c.1364T>C	c.(1363-1365)gTc>gCc	p.V455A	CD6_ENST00000352009.5_Intron|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000452451.2_Missense_Mutation_p.V455A|CD6_ENST00000346437.4_Intron|CD6_ENST00000344028.5_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	455					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TATCAACCGGTCCCCATCACC	0.592000													7	119					0	0	0.038147	0	0
EXT2	2132	broad.mit.edu	37	11	44228502	44228502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:44228502G>T	ENST00000395673.3	+	10	1810	c.1754G>T	c.(1753-1755)gGt>gTt	p.G585V	EXT2_ENST00000533608.1_Missense_Mutation_p.G552V|EXT2_ENST00000358681.4_Missense_Mutation_p.G562V|EXT2_ENST00000343631.3_Missense_Mutation_p.G552V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGCAATTTGGTTATGAGGTA	0.348000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				44	187					1.89013e-27	3.15457e-27	0.139131	1	0
BEGAIN	57596	broad.mit.edu	37	14	101005479	101005479	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:101005479G>A	ENST00000556751.1	-	5	3821	c.417C>T	c.(415-417)tcC>tcT	p.S139S	BEGAIN_ENST00000355173.2_Silent_p.S203S|BEGAIN_ENST00000443071.2_Silent_p.S203S|CTD-2062F14.3_ENST00000553301.1_lincRNA			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	203						cytoplasm|membrane	protein binding	p.S203S(1)		cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGTCGCGGGCGGAGGCATCGG	0.697000													5	15					0	0	0.029380	0	0
PRR16	51334	broad.mit.edu	37	5	120022158	120022158	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:120022158G>T	ENST00000379551.2	+	3	957	c.600G>T	c.(598-600)cgG>cgT	p.R200R	PRR16_ENST00000407149.2_Silent_p.R223R|PRR16_ENST00000505123.1_Silent_p.R153R|PRR16_ENST00000446965.1_Silent_p.R153R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	223	Pro-rich.							p.R200R(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTGATACCCGGTATAACATAA	0.512000													33	84					9.78485e-24	1.55962e-23	0.173368	1	0
STPG2	285555	broad.mit.edu	37	4	98480220	98480220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:98480220C>T	ENST00000295268.3	-	11	1458	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.D457N(2)									CACATTATATCAGCAGCCATT	0.284000													25	124					0	0	0.163468	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182405	57182405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:57182405G>T	ENST00000504228.1	+	6	2842	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A906S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A913S			Q6ZU35	K1211_HUMAN	KIAA1211	913								p.A913S(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCGGAAGCAAGCCCCTTCCAC	0.687000													18	65					2.35188e-11	2.98004e-11	0.175082	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702834	40702834	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:40702834A>C	ENST00000356699.5	+	4	520	c.491A>C	c.(490-492)gAt>gCt	p.D164A	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.D164A(4)									CATCCTCAGGATCTGGCCTCC	0.587000													87	393					0	0	0.139131	0	0
LHCGR	3973	broad.mit.edu	37	2	48941147	48941147	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:48941147T>G	ENST00000294954.7	-	7	604	c.583A>C	c.(583-585)Aat>Cat	p.N195H	LHCGR_ENST00000405626.1_Missense_Mutation_p.N195H|LHCGR_ENST00000403273.1_Missense_Mutation_p.N195H|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.N195H|LHCGR_ENST00000344775.3_Missense_Mutation_p.N195H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	195					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.N195H(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCGTCCCATTGAATGCATGA	0.378000													4	60					0	0	0.150653	0	0
TRIM55	84675	broad.mit.edu	37	8	67064862	67064862	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:67064862G>A	ENST00000315962.4	+	8	1609	c.1236_splice	c.e8+1	p.Q412_splice	TRIM55_ENST00000353317.5_Splice_Site_p.Q412_splice|TRIM55_ENST00000276573.7_Splice_Site_p.Q412_splice|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	412						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGTGACACAGGTAACCCCTC	0.542000													27	138					0	0	0.116897	0	0
STARD13	90627	broad.mit.edu	37	13	33704350	33704350	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:33704350C>A	ENST00000336934.5	-	5	580	c.464G>T	c.(463-465)cGt>cTt	p.R155L	STARD13_ENST00000399365.3_Missense_Mutation_p.R37L|STARD13_ENST00000255486.4_Missense_Mutation_p.R147L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	155					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R155L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTCGTCCACACGAGACCACCT	0.552000													14	53					0.000151284	0.000163057	0.105934	1	0
NYNRIN	57523	broad.mit.edu	37	14	24877306	24877306	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:24877306G>T	ENST00000382554.3	+	3	748	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	144					DNA integration	integral to membrane	DNA binding	p.G144C(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGCGCTGGGGCCCTGCCCC	0.687000													14	46					6.31663e-08	7.35414e-08	0.132662	1	0
VPS25	84313	broad.mit.edu	37	17	40931001	40931001	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40931001C>G	ENST00000253794.2	+	6	485	c.445C>G	c.(445-447)Cta>Gta	p.L149V		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	149					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGAAGCCACTCTACTGCGGGC	0.592000													5	76					0	0	0.184627	0	0
OSBPL6	114880	broad.mit.edu	37	2	179259071	179259071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179259071G>T	ENST00000190611.4	+	24	2981	c.2605G>T	c.(2605-2607)Gca>Tca	p.A869S	OSBPL6_ENST00000409045.3_Missense_Mutation_p.A838S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.A833S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A894S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.A833S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.A873S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	869					lipid transport		lipid binding	p.A894S(2)|p.A869S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGAAGCTGCAGCATCAGAGAA	0.348000													58	145					3.94896e-32	6.98752e-32	0.139131	1	0
NUPL1	9818	broad.mit.edu	37	13	25881957	25881957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25881957G>T	ENST00000463407.1	+	2	264	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.G41W|NUPL1_ENST00000381736.3_Missense_Mutation_p.G41W			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	41	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.G41W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCCTTCTGTGGGGCTCAATTT	0.378000													22	123					9.95505e-16	1.3852e-15	0.069288	1	0
IFNA2	3440	broad.mit.edu	37	9	21384955	21384955	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:21384955C>A	ENST00000380206.2	-	1	441	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	125					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G125V(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CACCCCCACCCCCTGTATCAC	0.483000													36	311					9.62906e-15	1.3096e-14	0.086207	1	0
CADPS	8618	broad.mit.edu	37	3	62636588	62636588	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:62636588G>C	ENST00000383710.4	-	5	1486	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	CADPS_ENST00000490353.2_Missense_Mutation_p.I379M|CADPS_ENST00000357948.3_Missense_Mutation_p.I379M|CADPS_ENST00000283269.9_Missense_Mutation_p.I379M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	379					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I379M(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCCCATGTCGATGATGGAAG	0.522000													37	165					0	0	0.098360	0	0
OR2M7	391196	broad.mit.edu	37	1	248487866	248487866	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248487866G>T	ENST00000317965.2	-	1	33	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2E(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCTCCCATGCCATGATGAA	0.428000													83	327					6.11987e-43	1.14867e-42	0.139131	1	0
RAB3C	115827	broad.mit.edu	37	5	58120870	58120870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:58120870C>A	ENST00000282878.4	+	4	546	c.377C>A	c.(376-378)aCt>aAt	p.T126N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	126					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.T126N(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGTCAACTCAAATCAAA	0.418000													27	118					4.7796e-09	5.70805e-09	0.099896	1	0
IGSF5	150084	broad.mit.edu	37	21	41137527	41137527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41137527G>T	ENST00000380588.4	+	3	269	c.166G>T	c.(166-168)Gct>Tct	p.A56S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	56	Ig-like V-type 1.					integral to membrane|tight junction		p.A56S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGGCTCCCAGGCTCGCTTCAA	0.527000													21	103					3.85864e-22	5.98412e-22	0.076483	1	0
TARSL2	123283	broad.mit.edu	37	15	102197168	102197168	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:102197168C>T	ENST00000335968.3	-	18	2433	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	739					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.K739K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGTATTTTCTTATTTAGTG	0.313000													19	41					0	0	0.204396	0	0
TTN	7273	broad.mit.edu	37	2	179587794	179587794	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179587794C>G	ENST00000589042.1	-	75	22164	c.21940G>C	c.(21940-21942)Gga>Cga	p.G7314R	TTN_ENST00000342992.6_Missense_Mutation_p.G6070R|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6997R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6997	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGAGCTCCACAAACATCC	0.368000													4	84					0	0	0.150653	0	0
FRAS1	80144	broad.mit.edu	37	4	79367972	79367972	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:79367972T>A	ENST00000264895.6	+	43	6388	c.5948T>A	c.(5947-5949)cTg>cAg	p.L1983Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1982					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L1983Q(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTTTGAGCCTGCAAGACCTG	0.478000													4	36					0	0	0.184627	0	0
DNAH9	1770	broad.mit.edu	37	17	11603083	11603083	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:11603083G>A	ENST00000262442.3	+	23	4976	c.4908G>A	c.(4906-4908)atG>atA	p.M1636I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M1636I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1636	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGACAACATGGCCAAGATGC	0.468000													6	117					0	0	0.021553	0	0
CALHM2	51063	broad.mit.edu	37	10	105209690	105209690	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:105209690G>T	ENST00000393235.1	-	3	1206	c.9C>A	c.(7-9)gcC>gcA	p.A3A	CALHM2_ENST00000260743.5_Silent_p.A3A|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Silent_p.A3A			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	3						integral to membrane		p.A3A(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGCGATCAGGGCTGCCATGG	0.587000													62	103					1.74971e-23	2.77421e-23	0.139131	1	0
RASGRF2	5924	broad.mit.edu	37	5	80408586	80408586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:80408586C>A	ENST00000265080.4	+	14	2063	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	666	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L666M(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAACACCTTTCTGCACACCTA	0.512000													89	340					1.26458e-31	2.21808e-31	0.139131	1	0
BORA	79866	broad.mit.edu	37	13	73319235	73319235	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:73319235T>A	ENST00000390667.5	+	8	725	c.628T>A	c.(628-630)Tcg>Acg	p.S210T	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.S140T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	210	Ser-rich.		S -> L (in dbSNP:rs9543107).		cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	p.S210T(2)									CTCCTTACCTTCGGCTTCTCC	0.448000													32	257					0	0	0.139131	0	0
SHPRH	257218	broad.mit.edu	37	6	146262871	146262871	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:146262871C>G	ENST00000367503.3	-	10	2776	c.2378G>C	c.(2377-2379)cGt>cCt	p.R793P	SHPRH_ENST00000275233.7_Missense_Mutation_p.R793P|SHPRH_ENST00000367505.2_Missense_Mutation_p.R793P|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R793P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCGTAGGCGACGCCCATCCTC	0.468000													31	71					0	0	0.144211	0	0
NNMT	4837	broad.mit.edu	37	11	114182861	114182861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114182861C>T	ENST00000535401.1	+	5	721	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.P153S|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	153					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGGGCCGTCCCCTTACCCCC	0.622000													10	218					0	0	0.069234	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449458	124449458	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:124449458G>T	ENST00000523984.1	+	5	440	c.212G>T	c.(211-213)aGa>aTa	p.R71I	WDYHV1_ENST00000287387.2_Missense_Mutation_p.R131I|WDYHV1_ENST00000523356.1_Missense_Mutation_p.R131I|WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000517609.1_3'UTR			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	131					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.R131I(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AGGAAATTTAGAGTGATCCGT	0.408000													25	136					1.64293e-13	2.17793e-13	0.083992	1	0
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:10930655C>A	ENST00000283141.6	+	19	1837	c.1541C>A	c.(1540-1542)aCc>aAc	p.T514N	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358000													6	101					0.0293803	0.0299014	0.029380	1	0
ZP1	22917	broad.mit.edu	37	11	60636728	60636728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:60636728G>T	ENST00000278853.5	+	2	307	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	103					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V103L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGCCACGTGCTGGAGAA	0.572000													9	47					0.00136819	0.00143238	0.093190	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1893703	1893703	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:1893703C>T	ENST00000518288.1	+	28	3514	c.3351C>T	c.(3349-3351)tcC>tcT	p.S1117S	ARHGEF10_ENST00000520359.1_Silent_p.S1055S|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.S1093S|ARHGEF10_ENST00000262112.6_Silent_p.S1089S|ARHGEF10_ENST00000398564.1_Silent_p.S1118S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1118					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.S870S(1)|p.S1118S(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGCCGTGTCCGGCGTCGGGA	0.597000													12	27					0	0	0.080935	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628585	20628585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:20628585G>T	ENST00000525748.1	+	4	985	c.712G>T	c.(712-714)Gct>Tct	p.A238S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	238					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A238S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATGATGCTGGCTCTGGCTGG	0.567000													40	108					4.57556e-38	8.44342e-38	0.131918	1	0
KIF27	55582	broad.mit.edu	37	9	86506225	86506225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:86506225T>A	ENST00000297814.2	-	6	1937	c.1794A>T	c.(1792-1794)agA>agT	p.R598S	KIF27_ENST00000334204.2_Missense_Mutation_p.R598S|KIF27_ENST00000413982.1_Missense_Mutation_p.R598S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	598					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R598S(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGGAATCTTGTCTTGATGGGA	0.358000													22	249					0	0	0.069288	0	0
FHDC1	85462	broad.mit.edu	37	4	153889217	153889217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:153889217G>A	ENST00000511601.1	+	10	1374	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E396K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	396	FH2.				actin cytoskeleton organization		actin binding	p.E396K(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGGGATGGTGAACTTTGTCA	0.453000													64	208					0	0	0.139131	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336927	162336927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:162336927G>T	ENST00000493151.1	+	2	2673	c.306G>T	c.(304-306)gaG>gaT	p.E102D	NOS1AP_ENST00000361897.5_Missense_Mutation_p.E397D|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E83D|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E392D|NOS1AP_ENST00000454693.1_3'UTR	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	397	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.E397D(4)|p.E102D(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTAAGCCAGAGGACCTGCATT	0.667000													69	291					1.07941e-43	2.03233e-43	0.139131	1	0
RFC3	5983	broad.mit.edu	37	13	34404943	34404943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:34404943A>T	ENST00000380071.3	+	6	791	c.661A>T	c.(661-663)Aga>Tga	p.R221*	RFC3_ENST00000434425.1_Nonsense_Mutation_p.R221*	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.R221*(4)		lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAAGTCTTGTAGAAATCTCAG	0.433000													10	84					0	0	0.069234	0	0
ARMC5	79798	broad.mit.edu	37	16	31473953	31473953	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:31473953G>C	ENST00000457010.2	+	3	1786	c.1085G>C	c.(1084-1086)cGg>cCg	p.R362P	ARMC5_ENST00000563544.1_Missense_Mutation_p.R362P|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.R362P|ARMC5_ENST00000538189.1_Missense_Mutation_p.R394P|ARMC5_ENST00000408912.3_Missense_Mutation_p.R457P	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	362							binding	p.R362P(1)|p.R457P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCATCAACCGGGCCCGACTG	0.652000													23	64					0	0	0.069288	0	0
IGLON5	402665	broad.mit.edu	37	19	51828677	51828677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51828677G>T	ENST00000270642.8	+	4	469	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	157	Ig-like C2-type 2.					extracellular region		p.V157L(2)		large_intestine(5)|lung(6)|prostate(1)	12						TTGCCTGGCCGTGGGGCGGCC	0.667000													6	45					0.00198382	0.00206612	0.029380	1	0
CSMD3	114788	broad.mit.edu	37	8	113569119	113569119	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:113569119T>A	ENST00000297405.5	-	25	4351	c.4107A>T	c.(4105-4107)caA>caT	p.Q1369H	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q1369H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q1329H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q1265H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7.					integral to membrane|plasma membrane		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAGTGGCCTTGGTCACTGA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	93					0	0	0.139131	0	0
C1orf173	127254	broad.mit.edu	37	1	75097613	75097613	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:75097613C>G	ENST00000326665.5	-	7	822		c.e7-1		C1orf173_ENST00000420661.2_Splice_Site	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173									p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTGCCCTGTAATCATA	0.368000													15	180					0	0	0.160694	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596192	24596192	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24596192G>C	ENST00000535378.1	-	4	1325	c.683C>G	c.(682-684)cCc>cGc	p.P228R	KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.P237R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCGGCAAGGGAAGCAACAC	0.547000													9	179					0	0	0.047766	0	0
IFT80	57560	broad.mit.edu	37	3	159998598	159998598	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:159998598T>A	ENST00000326448.7	-	15	1953	c.1521A>T	c.(1519-1521)acA>acT	p.T507T	IFT80_ENST00000496589.1_Silent_p.T370T|IFT80_ENST00000483465.1_Silent_p.T370T|RP11-432B6.3_ENST00000483754.1_Silent_p.T678T	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	507						cilium axoneme|microtubule basal body		p.T507T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATGCACCATTGTTCCTTAAT	0.313000													22	53					0	0	0.076483	0	0
FAM171B	165215	broad.mit.edu	37	2	187626258	187626258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:187626258G>T	ENST00000304698.5	+	8	1392	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	397						integral to membrane	DNA binding	p.V397F(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAACTTGAGGTCCTCAAGAG	0.358000													99	240					1.70186e-65	3.33454e-65	0.139131	1	0
KIAA0020	9933	broad.mit.edu	37	9	2820099	2820099	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:2820099C>A	ENST00000397885.2	-	13	1395		c.e13-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum|nucleolus	RNA binding	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGTATTGGCCCTGCAAGAATT	0.403000													8	55					0.0477658	0.048531	0.047766	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794437	15794437	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:15794437G>A	ENST00000550308.1	+	7	1162	c.782G>A	c.(781-783)cGc>cAc	p.R261H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R261H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGGCCTGCCGCCTGGTGCAT	0.552000													6	183					0	0	0.038147	0	0
GPR141	353345	broad.mit.edu	37	7	37780650	37780650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:37780650C>A	ENST00000447769.1	+	4	944	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GPR141_ENST00000334425.1_Missense_Mutation_p.Q219K|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	219						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q219K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTATCCCACCAGGAGTTCTG	0.418000													65	271					7.05995e-25	1.14499e-24	0.139131	1	0
NHSL2	340527	broad.mit.edu	37	X	71360426	71360426	+	Missense_Mutation	SNP	G	G	T	rs140270842		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:71360426G>T	ENST00000373677.1	+	2	3192	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	NHSL2_ENST00000540800.1_Missense_Mutation_p.V1010L|NHSL2_ENST00000535692.1_Missense_Mutation_p.V644L|NHSL2_ENST00000510661.1_Missense_Mutation_p.V779L			F5H593	F5H593_HUMAN	NHS-like 2	1010								p.V1010L(2)|p.V641L(2)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAAACCCAGCGTGCTGTACCT	0.532000													23	23					1.55795e-14	2.10699e-14	0.062417	1	0
KIAA0930	23313	broad.mit.edu	37	22	45598869	45598869	+	Splice_Site	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:45598869A>C	ENST00000336156.4	-	7	918		c.e7+1		KIAA0930_ENST00000391627.2_Splice_Site|KIAA0930_ENST00000443310.3_Splice_Site|KIAA0930_ENST00000251993.7_Splice_Site	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding	p.?(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCAGCCCTTACCCGCTCGTG	0.652000													26	81					0	0	0.108266	0	0
POTEE	445582	broad.mit.edu	37	2	131976304	131976304	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:131976304G>C	ENST00000356920.5	+	1	423	c.329G>C	c.(328-330)aGg>aCg	p.R110T	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R110T|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	110							ATP binding										CCCTGCTGCAGGGGGAGCGGC	0.597000													5	183					0	0	0.105934	0	0
MYO1G	64005	broad.mit.edu	37	7	45011815	45011815	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:45011815C>G	ENST00000258787.7	-	6	764	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	210	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.G210R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTCACTGCCTCTCAGCAAC	0.507000													40	158					0	0	0.092188	0	0
CHPF	79586	broad.mit.edu	37	2	220404338	220404338	+	Missense_Mutation	SNP	C	C	G	rs149014949		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220404338C>G	ENST00000243776.6	-	4	2343	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	CHPF_ENST00000535926.1_Missense_Mutation_p.E537Q	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	699						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.E699Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCAGCTCCTCTTCTTGTTCT	0.647000													13	114					0	0	0.146539	0	0
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141734530G>T	ENST00000475668.2	+	16	1902	c.1848G>T	c.(1846-1848)gcG>gcT	p.A616A	MGAM_ENST00000549489.2_Silent_p.A616A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	616	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A616A(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCTTTGCGGGCTCTGGCA	0.498000													10	96					1.33987e-11	1.70671e-11	0.069234	1	0
ADAM20	8748	broad.mit.edu	37	14	70991190	70991190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:70991190C>A	ENST00000256389.3	-	2	679	c.435G>T	c.(433-435)caG>caT	p.Q145H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	95					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q145H(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAGGGCATGCTGCTCTGTGT	0.522000													27	142					1.17739e-12	1.53048e-12	0.108266	1	0
FAM46A	55603	broad.mit.edu	37	6	82459626	82459626	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:82459626T>A	ENST00000369754.3	-	3	1484	c.1172A>T	c.(1171-1173)cAt>cTt	p.H391L	FAM46A_ENST00000320172.6_Missense_Mutation_p.H372L|FAM46A_ENST00000369756.3_Missense_Mutation_p.H453L			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	372										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TCTTCTTTCATGTCCCATCAG	0.438000													6	116					0	0	0.029380	0	0
KLHL20	27252	broad.mit.edu	37	1	173735426	173735426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:173735426G>T	ENST00000209884.4	+	8	1429	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E242D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	431					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.E431D(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTGTTGAGAGGTGATCTT	0.428000													116	274					4.61678e-68	9.06063e-68	0.139131	1	0
MGAM	8972	broad.mit.edu	37	7	141755465	141755465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141755465C>A	ENST00000475668.2	+	28	3476	c.3422C>A	c.(3421-3423)tCc>tAc	p.S1141Y	MGAM_ENST00000549489.2_Missense_Mutation_p.S1141Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1141	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1141Y(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCACAGGTCCTATAGGAGA	0.542000													79	186					5.56462e-29	9.48425e-29	0.139131	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73165952	73165952	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:73165952A>T	ENST00000545377.1	+	21	2660	c.2484A>T	c.(2482-2484)gcA>gcT	p.A828A	ARHGEF28_ENST00000513042.2_Silent_p.A828A|ARHGEF28_ENST00000426542.2_Silent_p.A828A|ARHGEF28_ENST00000287898.5_Silent_p.A828A|ARHGEF28_ENST00000437974.1_Silent_p.A828A|ARHGEF28_ENST00000296794.6_Silent_p.A828A|ARHGEF28_ENST00000296799.4_Silent_p.A515A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A828A(4)									AGTTTGAAGCAGAATCTTGGA	0.408000													34	188					0	0	0.214465	0	0
OR51D1	390038	broad.mit.edu	37	11	4661635	4661635	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:4661635C>G	ENST00000357605.2	+	1	691	c.615C>G	c.(613-615)acC>acG	p.T205T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T205T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTGACACCAGGGTCAATG	0.468000													55	171					0	0	0.139131	0	0
ARID2	196528	broad.mit.edu	37	12	46233207	46233207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:46233207C>T	ENST00000334344.6	+	11	1598	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q327*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q86*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCCAGTCATCAAATGTTATC	0.413000			"""N, S, F"""		hepatocellular carcinoma								5	275					0	0	0.184627	0	0
CASC5	57082	broad.mit.edu	37	15	40917275	40917275	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:40917275A>T	ENST00000346991.5	+	11	5281	c.4891A>T	c.(4891-4893)Ata>Tta	p.I1631L	CASC5_ENST00000399668.2_Missense_Mutation_p.I1605L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1631					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGCTACAGAAATACATAATAT	0.363000													4	97					0	0	0.150653	0	0
MGAM	8972	broad.mit.edu	37	7	141765177	141765177	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141765177C>A	ENST00000475668.2	+	38	4581	c.4527C>A	c.(4525-4527)acC>acA	p.T1509T	MGAM_ENST00000549489.2_Silent_p.T1509T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1509	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.T1509T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGTCATCACCCGCTCCACAT	0.597000													6	19					5.18039e-06	5.77997e-06	0.038147	1	0
STK31	56164	broad.mit.edu	37	7	23826529	23826529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:23826529C>A	ENST00000354639.3	+	20	2868	c.2404C>A	c.(2404-2406)Cct>Act	p.P802T	STK31_ENST00000433467.2_Missense_Mutation_p.P825T|STK31_ENST00000428484.1_Missense_Mutation_p.P802T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.P825T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.P825T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCAACATGCCTTTAAATTC	0.368000													45	283					1.48734e-19	2.2403e-19	0.131918	1	0
VWF	7450	broad.mit.edu	37	12	6135206	6135206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:6135206C>A	ENST00000261405.5	-	23	3228	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	992	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.V992L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCACACACTTTCTCCTTG	0.557000													22	108					2.89027e-11	3.63167e-11	0.069288	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045525	142045525	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142045525C>A	ENST00000390392.3	+	0	164																											CCCGCAGTCCCCATGGAAACG	0.478000													21	363					0.00121646	0.00127464	0.204396	1	0
CFHR5	81494	broad.mit.edu	37	1	196967432	196967432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:196967432C>A	ENST00000367414.5	+	7	1273	c.1217C>A	c.(1216-1218)aCa>aAa	p.T406K	CFHR5_ENST00000256785.4_Missense_Mutation_p.T382K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	382	Sushi 7.				complement activation, alternative pathway	extracellular region		p.T382K(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAGACTGCACAGGTAAGATT	0.294000													18	84					6.49762e-13	8.50123e-13	0.175082	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1706003	1706003	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:1706003G>T	ENST00000397412.3	+	10	1344	c.1245G>T	c.(1243-1245)gtG>gtT	p.V415V	CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Silent_p.V412V|CRAMP1L_ENST00000293925.5_Silent_p.V415V			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	415						nucleus	DNA binding	p.V415V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TGGCTCGCGTGGTGCACTCCA	0.652000													5	25					0.184627	0.185861	0.184627	1	0
GAK	2580	broad.mit.edu	37	4	905514	905514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:905514T>A	ENST00000314167.4	-	4	439	c.329A>T	c.(328-330)gAg>gTg	p.E110V	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	110	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.E110V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTCTGACTCCTCTTTTCCTAT	0.507000													16	200					0	0	0.062417	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94731788C>T	ENST00000304338.3	+	21	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.P754P(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358000													18	154					0	0	0.189662	0	0
ENAH	55740	broad.mit.edu	37	1	225699552	225699552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:225699552C>A	ENST00000366844.2	-	10	1883	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	ENAH_ENST00000366843.2_Nonsense_Mutation_p.E478*|ENAH_ENST00000284563.6_Nonsense_Mutation_p.E725*	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	478	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	p.E478*(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTACAGGCTCTGAATCTTCC	0.313000													10	31					3.27435e-08	3.83813e-08	0.119110	1	0
CNTN2	6900	broad.mit.edu	37	1	205042265	205042265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:205042265C>A	ENST00000331830.4	+	22	3198	c.2914C>A	c.(2914-2916)Cca>Aca	p.P972T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	972	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P972T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATAGAAATCCCAGTGCCTGA	0.557000													33	111					1.45844e-13	1.93761e-13	0.173368	1	0
SPEG	10290	broad.mit.edu	37	2	220353298	220353298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220353298G>T	ENST00000312358.7	+	33	8069	c.7937G>T	c.(7936-7938)cGg>cTg	p.R2646L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2646	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2646L(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCATCCCCCGGGCGGGCAAG	0.642000													45	99					7.05377e-20	1.07456e-19	0.139131	1	0
TMEM176A	55365	broad.mit.edu	37	7	150500824	150500824	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:150500824C>T	ENST00000484928.1	+	5	1040	c.459C>T	c.(457-459)atC>atT	p.I153I	TMEM176A_ENST00000004103.3_Silent_p.I153I|TMEM176A_ENST00000461345.1_Silent_p.I94I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	153						integral to membrane		p.I153I(2)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCGCATCTCCAGCTCGA	0.512000													47	103					0	0	0.139131	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775904	77775904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:77775904G>C	ENST00000521891.2	+	11	10402	c.9954G>C	c.(9952-9954)caG>caC	p.Q3318H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3273H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3292H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3269H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3269						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q3302H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTTgcagcagtaccaacagt	0.527000										HNSCC(33;0.089)			14	22					0	0	0.105934	0	0
PTH2R	5746	broad.mit.edu	37	2	209302554	209302554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:209302554C>A	ENST00000272847.2	+	4	572	c.359C>A	c.(358-360)gCc>gAc	p.A120D	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	120						integral to plasma membrane	parathyroid hormone receptor activity	p.A120D(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AAAACATGGGCCAATTATTCA	0.403000													11	126					6.40141e-05	6.96811e-05	0.080935	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811061	69811061	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:69811061C>T	ENST00000251566.4	-	2	857	c.827G>A	c.(826-828)gGa>gAa	p.G276E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	276						integral to membrane	glucuronosyltransferase activity	p.G276E(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAATCCTCCAACAAACTC	0.368000													29	109					0	0	0.134883	0	0
ZNF592	9640	broad.mit.edu	37	15	85326477	85326477	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:85326477G>C	ENST00000299927.3	+	1	593	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	ZNF592_ENST00000560079.2_Missense_Mutation_p.V191L			Q92610	ZN592_HUMAN	zinc finger protein 592	191					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAGTTTCCGGTTCCAGAGCT	0.537000													90	178					0	0	0.139131	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872401	125872401	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:125872401C>G	ENST00000393434.2	-	7	1093	c.744G>C	c.(742-744)acG>acC	p.T248T	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Silent_p.T248T|ALDH1L1_ENST00000452905.2_Silent_p.T147T|ALDH1L1_ENST00000455064.2_Silent_p.T73T|ALDH1L1_ENST00000273450.3_Silent_p.T258T|ALDH1L1_ENST00000472186.1_Silent_p.T248T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	248					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.T248T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGTGTTCAGCGTTGAGTTGA	0.562000													40	134					0	0	0.098360	0	0
ABCA9	10350	broad.mit.edu	37	17	67039769	67039769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:67039769C>A	ENST00000340001.4	-	6	872	c.661G>T	c.(661-663)Gtt>Ttt	p.V221F	ABCA9_ENST00000495634.1_Missense_Mutation_p.V221F|ABCA9_ENST00000370732.2_Missense_Mutation_p.V221F|ABCA9_ENST00000453985.2_Missense_Mutation_p.V221F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	221					transport	integral to membrane	ATP binding|ATPase activity	p.V221F(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCAGTTGCAACTCCTCCTTGG	0.328000													41	156					1.47244e-24	2.37523e-24	0.086207	1	0
CPEB1	64506	broad.mit.edu	37	15	83215961	83215961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:83215961G>A	ENST00000563800.1	-	10	3232	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*	CPEB1_ENST00000564522.1_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000568757.1_Nonsense_Mutation_p.Q401*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.Q476*|RP11-152F13.10_ENST00000562833.1_Silent_p.T210T|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.Q479*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.Q406*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.Q250*|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.Q481*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	481	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.Q406*(2)|p.Q476*(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAACTCCGTTGGTTATTGAAA	0.413000													30	71					0	0	0.134883	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891215	2891215	+	Nonsense_Mutation	SNP	G	G	T	rs150535335	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:2891215G>T	ENST00000254528.3	+	4	1249	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	364					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.G364*(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGCTACCTGGGAGTGATAGA	0.522000													32	122					1.22384e-17	1.7725e-17	0.173368	1	0
ELOVL3	83401	broad.mit.edu	37	10	103988649	103988649	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:103988649A>T	ENST00000370005.3	+	4	674	c.453A>T	c.(451-453)acA>acT	p.T151T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	151					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.T151T(2)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACCACAGCACAGTGCTCGTGT	0.498000													57	131					0	0	0.139131	0	0
PAXIP1	22976	broad.mit.edu	37	7	154775016	154775016	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:154775016C>A	ENST00000404141.1	-	5	505	c.351G>T	c.(349-351)ctG>ctT	p.L117L	PAXIP1_ENST00000397192.1_Silent_p.L117L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	117	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.L83L(2)|p.L117L(2)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCAAAGCCCACAGGGCACTTC	0.423000													5	42					0.00116845	0.00122539	0.021553	1	0
SLC5A7	60482	broad.mit.edu	37	2	108604640	108604640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:108604640C>A	ENST00000264047.2	+	2	305	c.29C>A	c.(28-30)gCt>gAt	p.A10D	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A10D|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	10					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.A10D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGACTGATAGCTATCATCGTG	0.443000													29	132					1.56442e-22	2.43871e-22	0.163468	1	0
OR10S1	219873	broad.mit.edu	37	11	123848123	123848123	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:123848123G>T	ENST00000531945.1	-	1	365	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATGACCTTGGGCACTGTCA	0.547000													6	70					4.68919e-08	5.48058e-08	0.069234	1	0
CHST13	166012	broad.mit.edu	37	3	126255153	126255153	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:126255153G>C	ENST00000319340.2	+	2	187	c.137G>C	c.(136-138)gGg>gCg	p.G46A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	46					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.G46A(2)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGGCTTGGTGGGGAGAAGAGA	0.607000													52	155					0	0	0.139131	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5319167	5319167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:5319167C>A	ENST00000274181.7	+	23	3729	c.3591C>A	c.(3589-3591)tgC>tgA	p.C1197*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1197	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1197*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCACTGGTGCTACCTGGTAC	0.532000													25	43					9.80776e-20	1.48658e-19	0.116897	1	0
UMODL1	89766	broad.mit.edu	37	21	43524089	43524089	+	Missense_Mutation	SNP	G	G	T	rs150059583		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:43524089G>T	ENST00000400427.1	+	9	1591	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	C21orf128_ENST00000329015.2_Missense_Mutation_p.H48Q|UMODL1_ENST00000408989.2_Missense_Mutation_p.V471L|UMODL1_ENST00000408910.2_Missense_Mutation_p.V471L|UMODL1_ENST00000400424.1_Missense_Mutation_p.V399L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	471	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.H48Q(4)|p.V399L(2)|p.V471L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGCTCACCGTGCAGGACCC	0.607000													74	212					4.12397e-46	7.85054e-46	0.139131	1	0
GARNL3	84253	broad.mit.edu	37	9	130073925	130073925	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:130073925C>G	ENST00000373387.4	+	3	582	c.230C>G	c.(229-231)gCc>gGc	p.A77G	GARNL3_ENST00000314904.5_Missense_Mutation_p.A77G|GARNL3_ENST00000435213.2_Missense_Mutation_p.A55G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	77					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.A59G(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATGCAACTGCCCTGCCTGGT	0.413000													16	150					0	0	0.132662	0	0
PLXND1	23129	broad.mit.edu	37	3	129279567	129279567	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:129279567C>G	ENST00000393239.1	-	30	5172		c.e30-1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(2)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AAGTCTTTCACTGTGAGAGGA	0.483000													27	80					0	0	0.116897	0	0
UNC5B	219699	broad.mit.edu	37	10	73047403	73047403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:73047403G>T	ENST00000335350.6	+	6	1198	c.782G>T	c.(781-783)cGc>cTc	p.R261L	UNC5B_ENST00000373192.4_Missense_Mutation_p.R261L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	261	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.R261L(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCTCCAACCGCTGTGGCCGA	0.667000													18	131					1.56452e-12	2.0228e-12	0.189662	1	0
MXRA5	25878	broad.mit.edu	37	X	3241316	3241316	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:3241316A>C	ENST00000217939.6	-	5	2564	c.2410T>G	c.(2410-2412)Ttg>Gtg	p.L804V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	804						extracellular region		p.L804V(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTTAATCAATGGGGGTACT	0.473000													13	157					0	0	0.119110	0	0
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	G	C	rs148764513		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:3002623G>C	ENST00000381127.1	+	6	967	c.746G>C	c.(745-747)cGg>cCg	p.R249P	ARSF_ENST00000537104.1_Missense_Mutation_p.R249P|ARSF_ENST00000359361.2_Missense_Mutation_p.R249P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	249						extracellular region	arylsulfatase activity|metal ion binding	p.R249P(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCATGCGGGGGCACGAG	0.493000													27	64					0	0	0.125774	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306857	126306857	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:126306857G>A	ENST00000525144.2	-	12	1650	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000529097.2_Silent_p.R467R|KIRREL3_ENST00000525704.2_Silent_p.R467R	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	467	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R467R(4)|p.R426R(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCACCGTATAGCGCCCCGATG	0.642000													18	26					0	0	0.189662	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719903	52719903	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:52719903A>T	ENST00000322088.6	+	9	1173	c.1115A>T	c.(1114-1116)cAg>cTg	p.Q372L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q317L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q193L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	372	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.Q372L(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCCTGGCTCAGCTGAAGGAT	0.552000			Mis		clear cell ovarian carcinoma								37	98					0	0	0.080422	0	0
CALU	813	broad.mit.edu	37	7	128394426	128394426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128394426G>T	ENST00000535623.1	+	4	1299	c.356G>T	c.(355-357)cGa>cTa	p.R119L	CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.R111L|CALU_ENST00000249364.4_Missense_Mutation_p.R111L|CALU_ENST00000449187.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.R119L	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	111	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	p.R111L(2)		kidney(2)|large_intestine(3)|lung(5)	10						GATGTAGAGCGACAGTGGAAG	0.483000													40	82					4.14481e-20	6.33819e-20	0.086207	1	0
CUBNP3	100421634	broad.mit.edu	37	10	45644305	45644305	+	RNA	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:45644305T>G	ENST00000427229.2	+	0	476																											TTTGAAGATTTTTACCTAGAA	0.348000													16	30					0	0	0.189662	0	0
TPO	7173	broad.mit.edu	37	2	1544403	1544403	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:1544403G>A	ENST00000345913.4	+	16	2747	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	TPO_ENST00000382201.3_Missense_Mutation_p.E829K|TPO_ENST00000382198.1_Missense_Mutation_p.E713K|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.E886K|TPO_ENST00000337415.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.E842K|TPO_ENST00000349624.3_Missense_Mutation_p.E713K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	886					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E886K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCATCTCGGAGACAGGCGG	0.642000													48	110					0	0	0.139131	0	0
LETMD1	25875	broad.mit.edu	37	12	51442900	51442900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:51442900G>T	ENST00000418425.2	+	2	225	c.206G>T	c.(205-207)gGg>gTg	p.G69V	LETMD1_ENST00000547008.1_Missense_Mutation_p.G69V|LETMD1_ENST00000550929.1_Missense_Mutation_p.G13V|LETMD1_ENST00000262055.4_Missense_Mutation_p.G69V|LETMD1_ENST00000380123.2_Missense_Mutation_p.G69V|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	69	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding	p.G69V(2)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCGATTAATGGGAAATACCAT	0.398000													71	92					2.08929e-35	3.79727e-35	0.139131	1	0
RICTOR	253260	broad.mit.edu	37	5	38947422	38947422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:38947422C>A	ENST00000357387.3	-	32	4288	c.4258G>T	c.(4258-4260)Ggt>Tgt	p.G1420C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1444C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1420					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G1420C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATCTGAACCCCCATATGTG	0.383000													42	301					1.41504e-22	2.21732e-22	0.124865	1	0
MCPH1	79648	broad.mit.edu	37	8	6338368	6338368	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:6338368C>T	ENST00000344683.5	+	11	2183	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	703	BRCT 2.					microtubule organizing center		p.R703C(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAATTGCGCGTGGCTGCTG	0.512000													25	83					0	0	0.091800	0	0
RBM7	10179	broad.mit.edu	37	11	114276519	114276519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114276519G>T	ENST00000541475.1	+	4	504	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	RBM7_ENST00000545678.1_Missense_Mutation_p.V26L|RBM7_ENST00000540163.1_Missense_Mutation_p.V146L|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.Q143H|RBM7_ENST00000544582.1_Missense_Mutation_p.V146L|RBM7_ENST00000375490.5_Missense_Mutation_p.V147L			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	146					meiosis		nucleotide binding|protein binding|RNA binding	p.V146L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGACAAGCAGTGGTAGGTTG	0.323000													33	61					1.06647e-15	1.48224e-15	0.193644	1	0
EDA2R	60401	broad.mit.edu	37	X	65824892	65824892	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:65824892G>A	ENST00000374719.3	-	3	320	c.264C>T	c.(262-264)ccC>ccT	p.P88P	EDA2R_ENST00000456230.2_Silent_p.P88P|EDA2R_ENST00000396050.1_Silent_p.P88P|EDA2R_ENST00000450752.1_Silent_p.P88P|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000253392.5_Silent_p.P88P	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	88					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.P88P(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCTCACCTGGGCAAACAGT	0.478000													9	16					0	0	0.080935	0	0
MNDA	4332	broad.mit.edu	37	1	158815548	158815548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158815548C>A	ENST00000368141.4	+	5	1003	c.742C>A	c.(742-744)Cat>Aat	p.H248N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	248	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H248N(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAATATTTCCATGTGAAAGT	0.378000													27	100					7.07758e-08	8.21627e-08	0.099896	1	0
TSPAN33	340348	broad.mit.edu	37	7	128806740	128806740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:128806740C>A	ENST00000289407.4	+	6	690	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	194						integral to membrane		p.P194H(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGCCTACTCCTGACCAGGTG	0.557000													155	359					5.52588e-69	1.08625e-68	0.139131	1	0
SMURF1	57154	broad.mit.edu	37	7	98633309	98633309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:98633309A>C	ENST00000361125.1	-	17	2237	c.1918T>G	c.(1918-1920)Ttg>Gtg	p.L640V	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.L614V	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	640	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	p.L640V(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTCGTTCAAGTCTATTTTA	0.522000													10	78					0	0	0.093190	0	0
PRKCB	5579	broad.mit.edu	37	16	24046867	24046867	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24046867C>A	ENST00000303531.7	+	5	680	c.529_splice	c.e5+1	p.L176_splice	PRKCB_ENST00000321728.7_Splice_Site_p.L176_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	176	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.L176L(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCATTGTCCTCGGTAGGTGGC	0.647000													23	125					6.32553e-13	8.29409e-13	0.099896	1	0
LRRC66	339977	broad.mit.edu	37	4	52860545	52860545	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:52860545T>G	ENST00000343457.3	-	4	2649	c.2643A>C	c.(2641-2643)taA>taC	p.*881Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	0						integral to membrane		p.*881Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGATTCTTATTTTAAAA	0.383000													7	114					0	0	0.047766	0	0
REG1P	5969	broad.mit.edu	37	2	79364020	79364020	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79364020C>A	ENST00000444841.1	-	0	318																											AGCACAGACACCAGGTTACCT	0.517000													4	76					0.150653	0.151787	0.150653	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318931	21318931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:21318931G>T	ENST00000583088.1	+	3	1172	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A93S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.A93S(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGCCTTCCTTGCCTCCTGGCT	0.622000										Prostate(3;0.18)			10	61					2.32078e-09	2.79934e-09	0.132662	1	0
IGHG1	3500	broad.mit.edu	37	14	106208131	106208131	+	RNA	SNP	C	C	G	rs1127807		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:106208131C>G	ENST00000390548.2	-	0	671																											CTCGGGGCTGCCCTGTAGGGA	0.647000													77	186					0	0	0.139131	0	0
GNAQ	2776	broad.mit.edu	37	9	80537207	80537207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:80537207C>A	ENST00000286548.4	-	2	413	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	64					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.G64V(2)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTATCCTGACCCATGGATGAT	0.483000			Mis		uveal melanoma								45	178					2.68985e-26	4.42796e-26	0.139131	1	0
MDGA2	161357	broad.mit.edu	37	14	47601038	47601038	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:47601038C>T	ENST00000439988.2	-	5	596	c.597G>A	c.(595-597)aaG>aaA	p.K199K	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000399232.2_Silent_p.K268K			Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	199	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.K268K(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTTTAAGATCTTTGTTTCAC	0.328000													9	52					0	0	0.047766	0	0
GAS2	2620	broad.mit.edu	37	11	22707259	22707259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:22707259G>T	ENST00000454584.2	+	3	496	c.191G>T	c.(190-192)gGt>gTt	p.G64V	GAS2_ENST00000433790.1_Missense_Mutation_p.G64V|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Missense_Mutation_p.G64V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	64	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		p.G64V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTGGACAATGGTGCCTTGCTC	0.383000													47	152					8.44121e-28	1.4266e-27	0.139131	1	0
COL25A1	84570	broad.mit.edu	37	4	109861765	109861765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:109861765C>A	ENST00000399132.1	-	10	1132	c.602G>T	c.(601-603)gGc>gTc	p.G201V	COL25A1_ENST00000399127.1_Missense_Mutation_p.G197V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G201V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	201	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G201V(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGAGGGCCAGGGGGTCC	0.562000													11	209					1.58986e-06	1.78878e-06	0.069234	1	0
PCDH17	27253	broad.mit.edu	37	13	58209184	58209184	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:58209184G>C	ENST00000377918.3	+	1	2530	c.2504G>C	c.(2503-2505)aGc>aCc	p.S835T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	835					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S835T(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCACACCAGCTTCACCGGA	0.577000													7	54					0	0	0.038147	0	0
CD109	135228	broad.mit.edu	37	6	74440084	74440084	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:74440084A>T	ENST00000437994.2	+	4	725	c.294A>T	c.(292-294)gcA>gcT	p.A98A	CD109_ENST00000287097.5_Silent_p.A98A|CD109_ENST00000422508.2_Intron	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	98						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A98A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACAGTGCAGATGAGATTT	0.373000													62	107					0	0	0.139131	0	0
DSG3	1830	broad.mit.edu	37	18	29046538	29046538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:29046538C>A	ENST00000257189.4	+	11	1540	c.1457C>A	c.(1456-1458)cCc>cAc	p.P486H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	486	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P486H(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAGAGTACCCGATTTCAAT	0.378000													22	234					1.64293e-13	2.17793e-13	0.083992	1	0
RHOJ	57381	broad.mit.edu	37	14	63671738	63671738	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:63671738G>A	ENST00000316754.3	+	1	613	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RHOJ_ENST00000555125.1_Missense_Mutation_p.V51M|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	51					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.V51M(3)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAGGAATACGTGCCCACTGT	0.557000													14	96					0	0	0.160694	0	0
ZNF285	26974	broad.mit.edu	37	19	44891467	44891467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:44891467T>A	ENST00000330997.4	-	4	1004	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K321*|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K314*	NM_152354.3	NP_689567.3			zinc finger protein 285									p.K314*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGTAGGGTTTGTCTCCTGAG	0.502000													25	188					0	0	0.099896	0	0
NPY2R	4887	broad.mit.edu	37	4	156135962	156135962	+	Missense_Mutation	SNP	G	G	T	rs147783618		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:156135962G>T	ENST00000329476.3	+	2	1360	c.871G>T	c.(871-873)Gtt>Ttt	p.V291F	NPY2R_ENST00000506608.1_Missense_Mutation_p.V291F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	291					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.V291F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAGCTTGCCGTTGACATTGA	0.527000													23	66					3.7963e-18	5.55838e-18	0.083992	1	0
LCE4A	199834	broad.mit.edu	37	1	152681629	152681629	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:152681629C>T	ENST00000368777.1	+	2	334	c.78C>T	c.(76-78)ccC>ccT	p.P26P	LCE4A_ENST00000335535.3_Silent_p.P26P			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	26	Cys-rich.				keratinization			p.P26P(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAAAATGTCCCTCAAAGTGTG	0.572000													74	301					0	0	0.139131	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961521	51961521	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:51961521G>T	ENST00000321424.3	-	1	187	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L41M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L41M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	41	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L41M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACACACAGGCCCTCCTGC	0.597000													55	146					1.77205e-36	3.24024e-36	0.139131	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202398051	202398051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:202398051G>T	ENST00000406302.3	+	6	1068	c.915G>T	c.(913-915)caG>caT	p.Q305H	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.Q305H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	305					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.Q305H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAAGAAGCAGAATGTGGTGA	0.453000													14	53					0.000308642	0.000328256	0.132662	1	0
MED13	9969	broad.mit.edu	37	17	60064385	60064385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:60064385C>T	ENST00000397786.2	-	12	2444	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	790					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCATCTTCATCAGAATTGAAG	0.338000													4	74					0	0	0.150653	0	0
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000581580.1_Missense_Mutation_p.R101H|DCC_ENST00000412726.1_Missense_Mutation_p.R294H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517000													12	263					0	0	0.093190	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588903	61588903	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:61588903T>C	ENST00000370349.3	+	4	554	c.350T>C	c.(349-351)tTc>tCc	p.F117S	SLC17A9_ENST00000370351.4_Missense_Mutation_p.F123S|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	123					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.F123S(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTCATGACCTTCTCACGCATC	0.647000													14	52					0	0	0.132662	0	0
TRAK1	22906	broad.mit.edu	37	3	42233088	42233088	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:42233088G>A	ENST00000327628.5	+	7	1129	c.729G>A	c.(727-729)gaG>gaA	p.E243E	TRAK1_ENST00000449246.1_Silent_p.E169E|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.E185E|TRAK1_ENST00000396175.1_Silent_p.E185E	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	243	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTATGAGGAGAAGGAGCAGC	0.547000											OREG0015501	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	18					0	0	0.184627	0	0
DEPDC7	91614	broad.mit.edu	37	11	33054339	33054339	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:33054339G>A	ENST00000311388.3	+	7	1612	c.1236_splice	c.e7+1	p.K412_splice	DEPDC7_ENST00000241051.3_Splice_Site_p.K421_splice	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	421					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.K421K(2)|p.K412K(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ATGTTTTTAAGGTAAAATTGT	0.294000													54	159					0	0	0.139131	0	0
GDNF	2668	broad.mit.edu	37	5	37815930	37815930	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:37815930C>A	ENST00000326524.2	-	3	658	c.459G>T	c.(457-459)gaG>gaT	p.E153D	GDNF_ENST00000427982.1_Missense_Mutation_p.E170D|GDNF_ENST00000381826.4_Missense_Mutation_p.E144D|GDNF_ENST00000515058.1_Missense_Mutation_p.E127D|GDNF_ENST00000344622.4_Missense_Mutation_p.E127D	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	p.E170D(2)|p.E153D(2)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTACGTTGTCTCAGCTGCAT	0.443000													55	267					8.99859e-20	1.3691e-19	0.139131	1	0
LAMA2	3908	broad.mit.edu	37	6	129511367	129511367	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:129511367A>T	ENST00000421865.2	+	11	1534	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	495	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G495G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAAGGAGGAGACTGTAGTC	0.403000													40	100					0	0	0.104719	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530120	80530120	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:80530120C>A	ENST00000295057.3	-	2	1481	c.825G>T	c.(823-825)gtG>gtT	p.V275V	LRRTM1_ENST00000409148.1_Silent_p.V275V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	275						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V275V(4)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGTCTCGAACACATGGGGCT	0.582000										HNSCC(69;0.2)			29	86					5.60225e-13	7.36173e-13	0.144211	1	0
ARMC5	79798	broad.mit.edu	37	16	31471201	31471201	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:31471201C>T	ENST00000457010.2	+	1	1057	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ARMC5_ENST00000563544.1_Missense_Mutation_p.P119L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P119L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P151L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P214L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	119							binding	p.P214L(2)|p.P119L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGTCTAGTCCTACGCCGCCA	0.726000													9	41					0	0	0.058154	0	0
OR2M7	391196	broad.mit.edu	37	1	248487614	248487614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248487614A>T	ENST00000317965.2	-	1	285	c.257T>A	c.(256-258)tTg>tAg	p.L86*		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L86*(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCAGACAAGTAGTTGAA	0.493000													172	461					0	0	0.139131	0	0
TCEA2	6919	broad.mit.edu	37	20	62697832	62697832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:62697832G>T	ENST00000395053.3	+	2	231	c.76G>T	c.(76-78)Gga>Tga	p.G26*	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Nonsense_Mutation_p.G26*|TCEA2_ENST00000361317.2_5'UTR			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	26	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G26*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTTCCAGGAGGGAGCCATGGA	0.557000													24	239					9.80776e-20	1.48658e-19	0.116897	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75932301	75932301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:75932301T>A	ENST00000262207.4	+	12	1699	c.1231T>A	c.(1231-1233)Tca>Aca	p.S411T	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S225T|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S223T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	411	LCCL 2.					extracellular region		p.S411T(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAGCCTGCTTCACATTGCCC	0.413000													11	164					0	0	0.069234	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414155	38414155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:38414155C>A	ENST00000377694.1	-	2	528	c.506G>T	c.(505-507)gGg>gTg	p.G169V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	169	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding	p.G169V(2)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CACCTGCGCCCCGGTGACGTT	0.577000													28	150					7.41945e-09	8.8257e-09	0.108266	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:46032564G>T	ENST00000334662.2	+	1	569	c.547G>T	c.(547-549)Gct>Tct	p.A183S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A183S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGGGCTTCCTCTCT	0.632000													100	255					9.98717e-52	1.91633e-51	0.139131	1	0
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652000													16	44					0	0	0.146539	0	0
LIG4	3981	broad.mit.edu	37	13	108861585	108861585	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:108861585G>A	ENST00000356922.4	-	2	2304	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	LIG4_ENST00000442234.1_Silent_p.L678L|LIG4_ENST00000405925.1_Silent_p.L678L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	678	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.L678L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGTTCTCCAGGTCAGGCTTT	0.383000								Non-homologous end-joining					21	105					0	0	0.062417	0	0
DCHS2	54798	broad.mit.edu	37	4	155298498	155298498	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155298498G>T	ENST00000357232.3	-	3	332	c.333C>A	c.(331-333)atC>atA	p.I111I	DCHS2_ENST00000339452.1_Silent_p.I717I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	111	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I111I(2)|p.I717I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGAGGGTCGATCCGGAATG	0.463000													32	134					8.16721e-17	1.16192e-16	0.153744	1	0
LRRC7	57554	broad.mit.edu	37	1	70504811	70504811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:70504811A>G	ENST00000310961.5	+	22	3623	c.3205A>G	c.(3205-3207)Aaa>Gaa	p.K1069E	LRRC7_ENST00000415775.2_Missense_Mutation_p.K348E|LRRC7_ENST00000035383.5_Missense_Mutation_p.K1064E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1064						centrosome|focal adhesion|nucleolus	protein binding	p.K1064E(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCAGCAAAAACATCGC	0.463000													27	58					0	0	0.125774	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936140	94936140	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:94936140C>G	ENST00000337425.5	-	2	166	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.G13A|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G31A|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	13					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.G31A(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGCACAGAGGCCAACAGCAAA	0.517000													45	114					0	0	0.139131	0	0
C9orf72	203228	broad.mit.edu	37	9	27556699	27556699	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:27556699C>T	ENST00000380003.3	-	8	1014	c.951G>A	c.(949-951)caG>caA	p.Q317Q	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	317								p.Q317Q(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AGGGTGGCATCTGCTTCACAG	0.473000													26	297					0	0	0.108266	0	0
VSNL1	7447	broad.mit.edu	37	2	17836616	17836616	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:17836616C>A	ENST00000406397.1	+	4	1056	c.531C>A	c.(529-531)agC>agA	p.S177R	VSNL1_ENST00000404666.2_Missense_Mutation_p.S177R|VSNL1_ENST00000295156.4_Missense_Mutation_p.S177R			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4.						calcium ion binding	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443000													22	137					5.35047e-06	5.96422e-06	0.083992	1	0
HSPH1	10808	broad.mit.edu	37	13	31713001	31713001	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:31713001C>T	ENST00000320027.5	-	16	2469	c.2125G>A	c.(2125-2127)Gct>Act	p.A709T	HSPH1_ENST00000380406.5_Missense_Mutation_p.A668T|HSPH1_ENST00000445273.2_Missense_Mutation_p.A711T|HSPH1_ENST00000380405.4_Missense_Mutation_p.A665T|HSPH1_ENST00000429785.2_Missense_Mutation_p.A528T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	709					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.A709T(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGTTCTTCAGCTTCCTGAAAC	0.328000													21	144					0	0	0.076483	0	0
CLCN4	1183	broad.mit.edu	37	X	10176257	10176257	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:10176257G>C	ENST00000380833.4	+	9	1407	c.1016G>C	c.(1015-1017)gGg>gCg	p.G339A	CLCN4_ENST00000421085.2_Missense_Mutation_p.G245A|CLCN4_ENST00000380829.1_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	339						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.G339A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCTGCTTGGGGTCTTCGGG	0.572000													10	224					0	0	0.069234	0	0
LTBP1	4052	broad.mit.edu	37	2	33359928	33359928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:33359928G>T	ENST00000404816.2	+	5	1455	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	LTBP1_ENST00000404525.1_Missense_Mutation_p.G42C|LTBP1_ENST00000418533.2_Missense_Mutation_p.G42C|LTBP1_ENST00000407925.1_Missense_Mutation_p.G42C|LTBP1_ENST00000390003.4_Missense_Mutation_p.G42C|LTBP1_ENST00000402934.1_Missense_Mutation_p.G42C|LTBP1_ENST00000354476.3_Missense_Mutation_p.G368C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	368					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G368C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACCAAGGGCAGCTGTCA	0.547000													23	92					2.32416e-17	3.35001e-17	0.069288	1	0
FREM1	158326	broad.mit.edu	37	9	14748528	14748528	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:14748528G>T	ENST00000380881.4	-	32	6485	c.5670C>A	c.(5668-5670)tcC>tcA	p.S1890S	FREM1_ENST00000380880.3_Silent_p.S1889S|FREM1_ENST00000422223.2_Silent_p.S1889S|FREM1_ENST00000380894.1_Silent_p.S425S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1889					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGATGAAAGGAACCAGAAG	0.507000													9	445					3.09899e-07	3.54632e-07	0.047766	1	0
ZNF268	10795	broad.mit.edu	37	12	133779410	133779410	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:133779410A>T	ENST00000536435.2	+	6	1468	c.1138A>T	c.(1138-1140)Aaa>Taa	p.K380*	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.K219*|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.K380*|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	380						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTCACACCAGAAAACTCATTC	0.388000													19	23					0	0	0.175082	0	0
GRID1	2894	broad.mit.edu	37	10	87628799	87628799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:87628799C>A	ENST00000327946.7	-	6	1004	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	307						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D307Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCTGGGGGTCGCAGAGCAGG	0.582000										Multiple Myeloma(13;0.14)			75	97					7.97268e-31	1.38831e-30	0.139131	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125555897	125555897	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:125555897G>A	ENST00000431078.1	+	19	3578	c.3214_splice	c.e19+1	p.G1072_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1072	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1072S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGCAAGAATGGTGAGTGTGA	0.498000													13	52					0	0	0.093190	0	0
TRAV16	28667	broad.mit.edu	37	14	22459119	22459119	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22459119C>T	ENST00000390444.1	+	0	271																											ATCTTTCCACCTGAAGAAACC	0.463000													18	26					0	0	0.189662	0	0
LPPR4	9890	broad.mit.edu	37	1	99767413	99767413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:99767413A>C	ENST00000370185.3	+	6	1423	c.926A>C	c.(925-927)tAt>tCt	p.Y309S	LPPR4_ENST00000370184.1_Missense_Mutation_p.Y151S|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309							phosphatidate phosphatase activity	p.Y309S(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTTGATGTCTATTGTGGCTTT	0.358000													25	156					0	0	0.116897	0	0
RSPO2	340419	broad.mit.edu	37	8	109001368	109001368	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:109001368C>A	ENST00000517939.1	-	0	194				RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000276659.5_Missense_Mutation_p.G67W			Q6UXX9	RSPO2_HUMAN	R-spondin 2						Wnt receptor signaling pathway	extracellular region	heparin binding	p.G67W(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGGCGCATCCCTTCTCTTCGA	0.468000													87	143					2.93434e-44	5.54212e-44	0.139131	1	0
FCRLA	84824	broad.mit.edu	37	1	161680697	161680697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:161680697C>A	ENST00000540926.1	+	3	538	c.245C>A	c.(244-246)tCc>tAc	p.S82Y	FCRLA_ENST00000349527.4_Missense_Mutation_p.S76Y|FCRLA_ENST00000309691.6_Missense_Mutation_p.S76Y|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.S93Y|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Missense_Mutation_p.S93Y|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Missense_Mutation_p.S93Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.S53Y|FCRLA_ENST00000367953.3_Missense_Mutation_p.S82Y|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.S99Y			Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGATTGTGTCCTATGGTGAG	0.557000													36	172					6.29468e-14	8.41853e-14	0.214465	1	0
CUBN	8029	broad.mit.edu	37	10	16873350	16873350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:16873350G>T	ENST00000377833.4	-	65	10494	c.10429C>A	c.(10429-10431)Cct>Act	p.P3477T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3477	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P3477T(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAAGACAGGGTTTGGCAGC	0.393000													54	140					1.67886e-27	2.81758e-27	0.139131	1	0
HHATL	57467	broad.mit.edu	37	3	42738369	42738369	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:42738369C>A	ENST00000441594.1	-	9	1272	c.1010_splice	c.e9-1	p.T337_splice	HHATL_ENST00000310417.5_Splice_Site_p.T337_splice	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	337					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.T337T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGTCAAAGTGCCTGTAAGAGG	0.612000													12	36					2.27111e-07	2.60637e-07	0.093190	1	0
GLRX3	10539	broad.mit.edu	37	10	131958334	131958334	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:131958334G>T	ENST00000368644.1	+	3	298		c.e3+1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	p.?(4)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTTTTCAAGGTAAGGATAAA	0.368000													60	104					3.76997e-23	5.96953e-23	0.139131	1	0
LPA	4018	broad.mit.edu	37	6	160977165	160977165	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:160977165T>A	ENST00000447678.1	-	31	4985	c.4865A>T	c.(4864-4866)cAg>cTg	p.Q1622L	LPA_ENST00000316300.5_Missense_Mutation_p.Q1622L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4130	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Q1622L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGATAACTCTGGCCATTACC	0.483000													63	139					0	0	0.139131	0	0
TAF1L	138474	broad.mit.edu	37	9	32633787	32633787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:32633787C>A	ENST00000242310.4	-	1	1880	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	597					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCGAAGACCCTGTTGCTTGG	0.483000													103	325					2.19198e-39	4.06985e-39	0.139131	1	0
PDIA2	64714	broad.mit.edu	37	16	333356	333356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:333356C>A	ENST00000219406.6	+	1	205	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	PDIA2_ENST00000404312.1_Missense_Mutation_p.L63M	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	63	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	p.L63M(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCTGCCCTGCTGGTGGAATT	0.697000													20	41					8.45889e-32	1.48802e-31	0.083992	1	0
PROC	5624	broad.mit.edu	37	2	128183674	128183674	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:128183674T>A	ENST00000453608.2	+	6	722	c.714T>A	c.(712-714)tgT>tgA	p.C238*	PROC_ENST00000422777.3_Nonsense_Mutation_p.C183*|PROC_ENST00000234071.3_Nonsense_Mutation_p.C183*|PROC_ENST00000409048.1_Nonsense_Mutation_p.C217*			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	183	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	p.C183*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGTTCCCTTGTGGGAGGCCCT	0.597000													34	92					0	0	0.173368	0	0
NLRC4	58484	broad.mit.edu	37	2	32477681	32477681	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:32477681G>T	ENST00000404025.2	-	4	557	c.69C>A	c.(67-69)atC>atA	p.I23I	NLRC4_ENST00000360906.5_Silent_p.I23I|NLRC4_ENST00000402280.1_Silent_p.I23I|NLRC4_ENST00000342905.6_Silent_p.I23I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	23	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I23I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTCATCTGTGATTTGCTTTA	0.393000													59	148					3.53049e-34	6.38774e-34	0.139131	1	0
COL4A2	1284	broad.mit.edu	37	13	111132683	111132683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:111132683G>T	ENST00000360467.5	+	31	3010	c.2704G>T	c.(2704-2706)Gga>Tga	p.G902*		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	902	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G902*(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGCCATCCAGGAAGCCCTGG	0.592000													25	105					1.32003e-05	1.45529e-05	0.108266	1	0
OR2W3	343171	broad.mit.edu	37	1	248059622	248059622	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248059622T>A	ENST00000537741.1	+	3	991	c.734T>A	c.(733-735)cTc>cAc	p.L245H	OR2W3_ENST00000360358.3_Missense_Mutation_p.L245H			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245H(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCCATCTCACTGTGGTC	0.512000													19	272					0	0	0.189662	0	0
PALB2	79728	broad.mit.edu	37	16	23634330	23634330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23634330C>A	ENST00000261584.4	-	9	3108	c.2956G>T	c.(2956-2958)Gat>Tat	p.D986Y	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	986	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.D986Y(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTTGTTGATCAGAAAGGGTC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					55	215					5.19286e-32	9.16163e-32	0.139131	1	0
PCYT1B	9468	broad.mit.edu	37	X	24597530	24597530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:24597530T>A	ENST00000379145.1	-	6	601	c.557A>T	c.(556-558)gAc>gTc	p.D186V	PCYT1B_ENST00000356768.4_Missense_Mutation_p.D204V|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Missense_Mutation_p.D204V	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	204	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.D204V(4)|p.D186V(2)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGTAATGATGTCCGATGTTGA	0.428000													71	90					0	0	0.139131	0	0
SRRM2	23524	broad.mit.edu	37	16	2814828	2814828	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:2814828A>G	ENST00000301740.8	+	11	4848	c.4299A>G	c.(4297-4299)agA>agG	p.R1433R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1433	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTTACCCAGAACTCCATCAA	0.512000													15	368					0	0	0.119110	0	0
REG3A	5068	broad.mit.edu	37	2	79384728	79384728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79384728C>T	ENST00000393878.1	-	4	684	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	REG3A_ENST00000409839.3_Missense_Mutation_p.G144S|REG3A_ENST00000305165.2_Missense_Mutation_p.G144S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	144	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G144S(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCACAGTGGCCGGGGCTTGAG	0.542000													7	164					0	0	0.047766	0	0
MUC21	394263	broad.mit.edu	37	6	30954905	30954905	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:30954905C>A	ENST00000376296.3	+	2	1194	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	318	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S318Y(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGACTCCAGC	0.612000													24	205					1.39806e-14	1.89287e-14	0.134883	1	0
MYB	4602	broad.mit.edu	37	6	135539023	135539023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:135539023C>A	ENST00000341911.5	+	16	2390	c.2191C>A	c.(2191-2193)Cct>Act	p.P731T	MYB_ENST00000367814.4_Missense_Mutation_p.P610T|MYB_ENST00000528774.1_Missense_Mutation_p.P728T|MYB_ENST00000525369.1_Missense_Mutation_p.P525T|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.P715T|MYB_ENST00000442647.2_Missense_Mutation_p.P607T|MYB_ENST00000534044.1_Missense_Mutation_p.P573T|MYB_ENST00000533624.1_Missense_Mutation_p.P575T|MYB_ENST00000316528.8_Missense_Mutation_p.P696T	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	610					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.P731T(2)|p.P610T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCTGGGAACCTGCATCCTG	0.517000			T	NFIB	adenoid cystic carcinoma								61	160					6.20203e-27	1.02516e-26	0.139131	1	0
NPC1	4864	broad.mit.edu	37	18	21140248	21140248	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:21140248G>A	ENST00000269228.5	-	6	1382	c.828C>T	c.(826-828)taC>taT	p.Y276Y	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.Y9Y	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	276					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.Y276Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACGCCATGTAGGTGATCC	0.507000													7	112					0	0	0.038147	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661623	113661623	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:113661623G>T	ENST00000393544.2	+	0	1671																											TAGGAAGCCAGACTCCACTGC	0.507000													26	70					4.3181e-19	6.44772e-19	0.173368	1	0
CLDN14	23562	broad.mit.edu	37	21	37833580	37833580	+	Missense_Mutation	SNP	C	C	A	rs142846225	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:37833580C>A	ENST00000399137.1	-	3	1280	c.414G>T	c.(412-414)tgG>tgT	p.W138C	AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399139.1_Missense_Mutation_p.W138C|CLDN14_ENST00000342108.2_Missense_Mutation_p.W138C|CLDN14_ENST00000399135.1_Missense_Mutation_p.W138C|AP000695.6_ENST00000429588.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	138					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.W138C(2)		endometrium(1)|lung(5)|skin(1)	7						CGTTGGTGGTCCAGGAGACGG	0.637000													19	130					8.34094e-07	9.4374e-07	0.204396	1	0
RABL3	285282	broad.mit.edu	37	3	120417341	120417341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:120417341T>A	ENST00000273375.3	-	5	492	c.463A>T	c.(463-465)Aca>Tca	p.T155S	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.T155S	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	155	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.T155S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGGCGCTTTGTTTCATGAATC	0.358000													158	482					0	0	0.139131	0	0
HAS2	3037	broad.mit.edu	37	8	122641133	122641133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:122641133T>A	ENST00000303924.4	-	2	985	c.448A>T	c.(448-450)Aac>Tac	p.N150Y		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	150						integral to plasma membrane	hyaluronan synthase activity	p.N150Y(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGTTGTTCTTCCAGATA	0.438000													45	739					0	0	0.139131	0	0
BCAS1	8537	broad.mit.edu	37	20	52612502	52612502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:52612502C>A	ENST00000395961.3	-	5	977	c.811G>T	c.(811-813)Gca>Tca	p.A271S	BCAS1_ENST00000371440.3_Missense_Mutation_p.A271S|BCAS1_ENST00000434986.2_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.A271S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	271						cytoplasm	protein binding	p.A271S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCGTCCTTTGCAGTCTCCAGT	0.473000													33	108					3.21399e-22	4.99724e-22	0.214465	1	0
SLC12A5	57468	broad.mit.edu	37	20	44670048	44670048	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:44670048C>T	ENST00000454036.1	+	8	1080	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.T312M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	335					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAATGAGACGGTGACCACA	0.552000													9	117					0	0	0.047766	0	0
BMP7	655	broad.mit.edu	37	20	55748235	55748235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:55748235C>A	ENST00000450594.2	-	6	1673	c.1167G>T	c.(1165-1167)tgG>tgT	p.W389C	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_Intron|BMP7_ENST00000395863.3_Intron			P18075	BMP7_HUMAN	bone morphogenetic protein 7	247					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TGACCACACCCCAAGATGGCG	0.617000													11	40					3.07112e-06	3.43931e-06	0.080935	1	0
ABCC9	10060	broad.mit.edu	37	12	22089557	22089557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:22089557C>G	ENST00000261200.4	-	1	51	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	ABCC9_ENST00000261201.4_Missense_Mutation_p.G18R|ABCC9_ENST00000538350.1_Missense_Mutation_p.G18R|ABCC9_ENST00000345162.2_Missense_Mutation_p.G18R|ABCC9_ENST00000326684.4_Missense_Mutation_p.G18R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	18					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G18R(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTAGTACACCATCGTTGATA	0.338000													23	72					0	0	0.069288	0	0
MSC	9242	broad.mit.edu	37	8	72754932	72754932	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:72754932A>T	ENST00000325509.4	-	2	874	c.585T>A	c.(583-585)gtT>gtA	p.V195V	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	195					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V195V(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGGCTGCGGAAACTTCTTTGG	0.468000													399	753					0	0	0.139131	0	0
SCG2	7857	broad.mit.edu	37	2	224463262	224463262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:224463262C>A	ENST00000305409.2	-	2	971	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	247					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.G247*(2)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGTCTTCTCCCCCGACCACA	0.413000													111	330					1.67525e-54	3.25592e-54	0.139131	1	0
RYR2	6262	broad.mit.edu	37	1	237729943	237729943	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:237729943G>A	ENST00000366574.2	+	28	3608	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	RYR2_ENST00000542537.1_Silent_p.K1081K|RYR2_ENST00000360064.6_Silent_p.K1095K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1097	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K1095K(2)|p.K1095N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGTGAAGGCCGGACGGT	0.557000													67	163					0	0	0.139131	0	0
NFAT5	10725	broad.mit.edu	37	16	69660388	69660388	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:69660388C>T	ENST00000432919.1	+	3	1418	c.210C>T	c.(208-210)agC>agT	p.S70S	NFAT5_ENST00000349945.1_5'UTR|NFAT5_ENST00000567239.1_Silent_p.S70S|NFAT5_ENST00000354436.2_Silent_p.S52S|NFAT5_ENST00000393742.2_5'UTR|NFAT5_ENST00000566899.1_5'UTR	NM_001113178.2|NM_138713.3	NP_001106649.1|NP_619727.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	52	Ser-rich.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S70S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCAGACAAGCGGTGGTGAGG	0.448000													9	127					0	0	0.093190	0	0
TENM2	57451	broad.mit.edu	37	5	167525048	167525048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:167525048C>A	ENST00000519204.1	+	8	1484	c.1366C>A	c.(1366-1368)Cca>Aca	p.P456T	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.P345T|TENM2_ENST00000403607.2_Missense_Mutation_p.P410T|TENM2_ENST00000545108.1_Missense_Mutation_p.P577T|TENM2_ENST00000518659.1_Missense_Mutation_p.P577T					teneurin transmembrane protein 2									p.P577T(2)|p.P410T(2)|p.P456T(2)									GCAGGACTGTCCACGTAACTG	0.453000													16	39					0.000566183	0.000600573	0.160694	1	0
NNMT	4837	broad.mit.edu	37	11	114183054	114183054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:114183054G>T	ENST00000535401.1	+	5	914	c.650G>T	c.(649-651)gGc>gTc	p.G217V	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.G217V|NNMT_ENST00000542647.1_Missense_Mutation_p.G22V|NNMT_ENST00000541754.1_Missense_Mutation_p.G22V|NNMT_ENST00000545255.1_Missense_Mutation_p.G22V			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	217					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.G217V(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTCCCCCTGGGCCGGGAGGCA	0.547000													11	130					2.61681e-11	3.30531e-11	0.119110	1	0
OR8J1	219477	broad.mit.edu	37	11	56128272	56128272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:56128272C>A	ENST00000303039.3	+	1	582	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TAATGTTCCTCTGTTAGCATT	0.333000													29	98					9.39395e-14	1.25218e-13	0.116897	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784676	140784676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:140784676G>T	ENST00000573521.1	+	1	2157	c.2157G>T	c.(2155-2157)tgG>tgT	p.W719C	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGCACTGGCACTCCTCGC	0.587000													33	84					1.30897e-18	1.93298e-18	0.144211	1	0
OR4D6	219983	broad.mit.edu	37	11	59224639	59224639	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:59224639T>C	ENST00000300127.2	+	1	229	c.206T>C	c.(205-207)cTg>cCg	p.L69P		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69P(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AAATCAGTCCTGGACATCGTT	0.463000													49	121					0	0	0.139131	0	0
DSEL	92126	broad.mit.edu	37	18	65178391	65178391	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:65178391G>A	ENST00000310045.7	-	2	4958	c.3485C>T	c.(3484-3486)gCt>gTt	p.A1162V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1152						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTTAAACTAGCAGGAGACAA	0.373000													4	75					0	0	0.184627	0	0
GRK5	2869	broad.mit.edu	37	10	121212231	121212231	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:121212231A>T	ENST00000392870.2	+	14	1782	c.1453A>T	c.(1453-1455)Act>Tct	p.T485S	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Missense_Mutation_p.T380S	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	485	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCAGTTCTCCACTGTGAAGGG	0.607000													6	89					0	0	0.029380	0	0
NCAPH	23397	broad.mit.edu	37	2	97008585	97008585	+	Splice_Site	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:97008585A>G	ENST00000455200.1	+	4	717	c.423_splice	c.e4+1	p.K141_splice	NCAPH_ENST00000240423.4_Splice_Site_p.K152_splice|NCAPH_ENST00000427946.1_Splice_Site_p.K16_splice			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	152					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.K152R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACCAACTTTAAAGTAAGAAGG	0.348000													7	70					0	0	0.029380	0	0
SCN9A	6335	broad.mit.edu	37	2	167133545	167133545	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:167133545T>A	ENST00000303354.6	-	16	3165	c.2825A>T	c.(2824-2826)cAa>cTa	p.Q942L	SCN9A_ENST00000409435.1_Missense_Mutation_p.Q941L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q930L|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q942L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	941						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q930L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCACATAGCTTGACCAGCGAC	0.448000													56	269					0	0	0.139131	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750472	41750472	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:41750472C>A	ENST00000226382.2	-	1	515	c.156G>T	c.(154-156)ggG>ggT	p.G52G	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	52					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G52G(2)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CGGACGTGGCCCCAAAAGTGG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				9	75					0.000673444	0.000710595	0.069234	1	0
ZNF560	147741	broad.mit.edu	37	19	9578614	9578614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:9578614C>A	ENST00000301480.4	-	10	1222	c.1009G>T	c.(1009-1011)Gta>Tta	p.V337L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V337L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCAACATTTACAGCATGGCTT	0.388000													5	134					0.000157383	0.000168725	0.038147	1	0
C9orf131	138724	broad.mit.edu	37	9	35045842	35045842	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:35045842C>A	ENST00000312292.5	+	2	3263	c.3216C>A	c.(3214-3216)ccC>ccA	p.P1072P	C9orf131_ENST00000421362.2_Silent_p.P1024P|C9orf131_ENST00000354479.5_Silent_p.P999P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1072								p.P1072P(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCATCGACCCCTACCCACCA	0.517000													83	245					1.19347e-43	2.24358e-43	0.139131	1	0
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:35836516C>A	ENST00000085219.5	+	12	2286	c.2220C>A	c.(2218-2220)gcC>gcA	p.A740A	CD22_ENST00000419549.2_Silent_p.A568A|CD22_ENST00000594250.1_Silent_p.A563A|CD22_ENST00000341773.6_Silent_p.A563A|CD22_ENST00000544992.2_Intron|CD22_ENST00000536635.2_Silent_p.A652A|CD22_ENST00000270311.6_Intron|MIR5196_ENST00000578146.1_RNA	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	740					cell adhesion		protein binding|sugar binding	p.A740A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTAGAAGGGCCCCCCTCTCTG	0.582000													39	66					1.49673e-21	2.31523e-21	0.086207	1	0
USHBP1	83878	broad.mit.edu	37	19	17373540	17373540	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:17373540C>T	ENST00000252597.3	-	4	636	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.G91R	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	155							PDZ domain binding	p.G155R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTGCTCCCCCTTCGCTTGTG	0.687000													56	114					0	0	0.139131	0	0
ACTG1	71	broad.mit.edu	37	17	79479156	79479156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:79479156C>A	ENST00000575842.1	-	2	562	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	ACTG1_ENST00000575087.1_Missense_Mutation_p.G46C|ACTG1_ENST00000573283.1_Missense_Mutation_p.G46C|ACTG1_ENST00000331925.2_Missense_Mutation_p.G46C			P63261	ACTG_HUMAN	actin, gamma 1	46					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G46C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGGCCCATGCCCACCATGACG	0.667000													55	128					5.39261e-20	8.22544e-20	0.139131	1	0
SYNPO2	171024	broad.mit.edu	37	4	119948371	119948371	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:119948371C>T	ENST00000307142.4	+	3	1043	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	SYNPO2_ENST00000429713.2_Missense_Mutation_p.R283W|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R283W	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	283						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R283W(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGACTGCCCCGGGTGGAAGT	0.557000													28	65					0	0	0.760397	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182681763	182681763	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:182681763T>C	ENST00000292782.4	-	3	448	c.295A>G	c.(295-297)Agc>Ggc	p.S99G	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.S84G	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	99	DCUN1.					ubiquitin ligase complex	protein binding	p.S99G(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACACTAATGCTGGCTGGATCG	0.418000													19	148					0	0	0.639603	0	0
FCRL4	83417	broad.mit.edu	37	1	157556176	157556176	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:157556176A>T	ENST00000271532.1	-	6	1052	c.917T>A	c.(916-918)cTg>cAg	p.L306Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	306	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.L306Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GACAAGGACCAGCATCTCCCC	0.602000													64	176					0	0	0.870114	0	0
NLRP2	55655	broad.mit.edu	37	19	55497607	55497607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:55497607G>T	ENST00000543010.1	+	8	2433	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	NLRP2_ENST00000263437.6_Missense_Mutation_p.G761C|NLRP2_ENST00000537859.1_Missense_Mutation_p.G742C|NLRP2_ENST00000427260.2_Missense_Mutation_p.G741C|NLRP2_ENST00000391721.4_Missense_Mutation_p.G740C|NLRP2_ENST00000339757.7_Missense_Mutation_p.G742C|NLRP2_ENST00000538819.1_Missense_Mutation_p.G740C|NLRP2_ENST00000448584.2_Missense_Mutation_p.G764C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	764					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.G764C(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCCTTCAAGGCAATGACCA	0.443000													17	38					6.94344e-10	8.43967e-10	0.539581	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													13	406					8.34094e-07	9.57925e-07	0.575678	1	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328321	21328321	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:21328321C>T	ENST00000444326.1	+	0	437																		p.P67S(1)									CGATGAAGTGCCTTTCTACAT	0.423000													13	540					0	0	0.479597	0	0
CSMD3	114788	broad.mit.edu	37	8	113348989	113348989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113348989G>T	ENST00000297405.5	-	44	7155	c.6911C>A	c.(6910-6912)cCa>cAa	p.P2304Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2234Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2264Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2200Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2304	CUB 13.					integral to membrane|plasma membrane		p.P2304Q(1)|p.P2264Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGTTTGGATATTCATC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	242					2.17888e-05	2.4277e-05	0.335167	1	0
ZMYM4	9202	broad.mit.edu	37	1	35847281	35847281	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:35847281G>T	ENST00000314607.6	+	9	1571	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	ZMYM4_ENST00000373297.2_Silent_p.S497S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	497					multicellular organismal development		DNA binding|zinc ion binding	p.S497S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTGGGTCGGGACAATGCC	0.433000													35	317					4.14481e-20	6.0172e-20	0.819951	1	0
TRPM4	54795	broad.mit.edu	37	19	49704042	49704042	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:49704042G>T	ENST00000252826.5	+	19	3079	c.2953_splice	c.e19+1	p.V985_splice	TRPM4_ENST00000427978.2_Splice_Site_p.V840_splice|TRPM4_ENST00000355712.5_Splice_Site_p.V631_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	985					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.V985L(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACATGGACGGTAGGGGGGA	0.592000													7	15					0.000442599	0.000479815	0.335167	1	0
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:153691700C>A	ENST00000304337.2	-	2	1277	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.G153C(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACTGGTACACCTGTAGCTTCT	0.363000													16	42					0.00121646	0.00129286	0.575678	1	0
CYB561A3	220002	broad.mit.edu	37	11	61121427	61121427	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:61121427C>G	ENST00000426130.2	-	5	1052	c.273G>C	c.(271-273)ggG>ggC	p.G91G	CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000447532.2_Silent_p.G74G|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000536915.1_Silent_p.G74G|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000294072.4_Silent_p.G74G	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3									p.G91G(2)|p.G74G(2)									GCAGTTTGGGCCCCACCCACG	0.607000													13	53					0	0	0.520397	0	0
EDIL3	10085	broad.mit.edu	37	5	83239283	83239283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:83239283C>G	ENST00000296591.5	-	11	1816	c.1398G>C	c.(1396-1398)agG>agC	p.R466S	EDIL3_ENST00000380138.3_Missense_Mutation_p.R456S	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	466	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.R466S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTGATCCTCCCGTACC	0.488000													50	193					0	0	0.870114	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22868122	22868122	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:22868122C>T	ENST00000251822.6	+	7	2229	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	RHOBTB2_ENST00000519685.1_Silent_p.T586T|RHOBTB2_ENST00000522948.1_Silent_p.T571T|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	564	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.T564T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCATGTTCACCTCCAGCCCCG	0.587000													24	157					0	0	0.706142	0	0
ADCY6	112	broad.mit.edu	37	12	49170251	49170251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:49170251C>A	ENST00000307885.4	-	6	2189	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	ADCY6_ENST00000357869.3_Missense_Mutation_p.V499L|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.V499L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	499					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.V499L(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAGGGTCACATCATTGGAC	0.647000													16	40					0.000566183	0.000613176	0.520397	1	0
WNK4	65266	broad.mit.edu	37	17	40940775	40940775	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:40940775A>C	ENST00000246914.5	+	11	2138	c.2117A>C	c.(2116-2118)gAt>gCt	p.D706A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	706					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.D706A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGATTTGATCTGGATGGG	0.517000													7	89					0	0	0.307466	0	0
TPH2	121278	broad.mit.edu	37	12	72416181	72416181	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:72416181C>G	ENST00000333850.3	+	9	1212	c.1071C>G	c.(1069-1071)tgC>tgG	p.C357W		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	357					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.C357W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTCTTCAGTGCTATTTCTTCA	0.413000													10	270					0	0	0.411799	0	0
CFH	3075	broad.mit.edu	37	1	196654266	196654266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:196654266A>C	ENST00000367429.4	+	7	1103	c.863A>C	c.(862-864)gAt>gCt	p.D288A	CFH_ENST00000359637.2_Missense_Mutation_p.D224A|CFH_ENST00000439155.2_Missense_Mutation_p.D288A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	288	Sushi 5.				complement activation, alternative pathway	extracellular space		p.D288A(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAACTGGAGATGAAATCACG	0.383000													16	774					0	0	0.500413	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94731788C>T	ENST00000304338.3	+	21	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.P754P(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358000													19	161					0	0	0.639603	0	0
BICD1	636	broad.mit.edu	37	12	32260458	32260458	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:32260458G>C	ENST00000548411.1	+	1	374	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	BICD1_ENST00000550207.1_Missense_Mutation_p.E65Q|BICD1_ENST00000551848.1_Missense_Mutation_p.E65Q|RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000281474.5_Missense_Mutation_p.E65Q|BICD1_ENST00000551086.1_Missense_Mutation_p.E65Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	65					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.E65Q(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCTCAAACAGGAGCTGGAGCA	0.577000													2	7					0	0	0.150653	0	0
SLC27A2	11001	broad.mit.edu	37	15	50494839	50494839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:50494839G>T	ENST00000267842.5	+	3	1076	c.844G>T	c.(844-846)Gct>Tct	p.A282S	SLC27A2_ENST00000544960.1_Missense_Mutation_p.A47S|SLC27A2_ENST00000380902.4_Intron	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	282					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.A282S(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGTATTGTGGCTGGTAAGCT	0.428000													22	439					5.61819e-17	7.84085e-17	0.693898	1	0
C2orf78	388960	broad.mit.edu	37	2	74043181	74043181	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:74043181C>A	ENST00000409561.1	+	3	1952	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	611	Lys-rich.							p.Q581K(2)|p.Q611K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAGAAAAATCAACCTGAGCT	0.438000													35	118					4.90274e-10	5.97936e-10	0.819951	1	0
ATP4A	495	broad.mit.edu	37	19	36044671	36044671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:36044671G>T	ENST00000262623.3	-	17	2570	c.2542C>A	c.(2542-2544)Cgc>Agc	p.R848S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.R848S(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTTGGGTTGCGTGGACGCAGG	0.607000													4	16					1.23904e-05	1.38911e-05	0.184627	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714185	70714185	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:70714185G>T	ENST00000530196.1	-	0	333					NR_003951.1																						CCAAACCGCAGACTATAGGAG	0.522000													4	43					0.00116845	0.00124305	0.217242	1	0
GDNF	2668	broad.mit.edu	37	5	37815930	37815930	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:37815930C>A	ENST00000326524.2	-	3	658	c.459G>T	c.(457-459)gaG>gaT	p.E153D	GDNF_ENST00000515058.1_Missense_Mutation_p.E127D|GDNF_ENST00000381826.4_Missense_Mutation_p.E144D|GDNF_ENST00000427982.1_Missense_Mutation_p.E170D|GDNF_ENST00000344622.4_Missense_Mutation_p.E127D	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	p.E170D(2)|p.E153D(2)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTACGTTGTCTCAGCTGCAT	0.443000													133	330					7.83929e-65	1.50531e-64	0.870114	1	0
ZNF236	7776	broad.mit.edu	37	18	74672732	74672732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:74672732C>G	ENST00000253159.8	+	30	5532	c.5334C>G	c.(5332-5334)taC>taG	p.Y1778*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Y1780*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1778					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y1778*(3)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCGGCCCTACAAGTGTGCCT	0.587000													4	95					0	0	0.184627	0	0
KMT2C	58508	broad.mit.edu	37	7	151962159	151962159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:151962159C>A	ENST00000355193.2	-	8	1366	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	KMT2C_ENST00000262189.6_Missense_Mutation_p.W383L					lysine (K)-specific methyltransferase 2C									p.W383L(2)									AGGACATTGCCAACCTGCACG	0.438000													90	2740					9.39395e-14	1.23467e-13	0.706142	1	0
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:17071902C>G	ENST00000359963.3	-	1	1798	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	513					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.Q513H(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTCACGAGCTGTAGCACCA	0.498000													41	77					0	0	0.870114	0	0
FCRLA	84824	broad.mit.edu	37	1	161680653	161680653	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:161680653G>A	ENST00000540926.1	+	3	494	c.201G>A	c.(199-201)caG>caA	p.Q67Q	FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000309691.6_Silent_p.Q61Q|FCRLA_ENST00000367959.2_Silent_p.Q84Q|FCRLA_ENST00000546024.1_Silent_p.Q78Q|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000236938.6_Silent_p.Q78Q|FCRLA_ENST00000367953.3_Silent_p.Q67Q|FCRLA_ENST00000367949.2_Silent_p.Q78Q|FCRLA_ENST00000367950.1_Silent_p.Q38Q|FCRLA_ENST00000349527.4_Silent_p.Q61Q			Q7L513	FCRLA_HUMAN	Fc receptor-like A	61					cell differentiation	cytoplasm|extracellular region		p.Q84Q(2)|p.Q61Q(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTTCCAGGTCAAGGCCT	0.562000													40	123					0	0	0.847076	0	0
TRANK1	9881	broad.mit.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:36872739C>T	ENST00000301807.6	-	21	8450	c.6553G>A	c.(6553-6555)Ggc>Agc	p.G2185S	TRANK1_ENST00000428977.2_Missense_Mutation_p.G2185S|TRANK1_ENST00000429976.2_Missense_Mutation_p.G2735S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2735					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.G2185S(2)|p.G2178S(2)|p.G2735S(2)|p.G2735C(1)|p.G2185C(1)|p.G2178C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCTGGGCCACGGGTAAAC	0.592000													37	131					0	0	0.834066	0	0
CDH6	1004	broad.mit.edu	37	5	31297485	31297485	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:31297485C>G	ENST00000265071.2	+	4	878	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q150E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q205E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTACAGGGACAGCCCTATTT	0.373000													20	311					0	0	0.575678	0	0
ATP1B4	23439	broad.mit.edu	37	X	119512560	119512560	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:119512560A>G	ENST00000218008.3	+	7	901	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	ATP1B4_ENST00000361319.3_Missense_Mutation_p.I278V|ATP1B4_ENST00000539306.1_Missense_Mutation_p.I239V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	282					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.I278V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CATCCGATCCATCAGTTACTA	0.478000													107	184					0	0	0.870114	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432382	107432382	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:107432382A>G	ENST00000340010.5	-	4	459	c.275T>C	c.(274-276)tTa>tCa	p.L92S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L57S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAAATGCTAAACCTGTAAA	0.423000													10	213					0	0	0.335167	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455747	42455747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:42455747C>A	ENST00000262407.5	-	20	2108	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A693S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	693					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A693S(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTGCTTAGGGCCCGCATGTAG	0.647000													14	2					3.52763e-06	4.00045e-06	0.520397	1	0
TBX5	6910	broad.mit.edu	37	12	114804114	114804114	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:114804114C>T	ENST00000310346.4	-	8	1504	c.838G>A	c.(838-840)Gct>Act	p.A280T	TBX5_ENST00000349716.5_Missense_Mutation_p.A230T|TBX5_ENST00000405440.2_Missense_Mutation_p.A280T|TBX5_ENST00000526441.1_Missense_Mutation_p.A280T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	280					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A280T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGGAGAGAGCTCGAGACTCG	0.552000													21	224					0	0	0.624587	0	0
MMP10	4319	broad.mit.edu	37	11	102643716	102643716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:102643716C>A	ENST00000279441.4	-	8	1124	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	363	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R363I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCATTTCCTCTGATGGCCCA	0.368000													25	276					3.00307e-07	3.48214e-07	0.729181	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147259322	147259322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:147259322C>A	ENST00000361727.3	+	12	2386	c.1870C>A	c.(1870-1872)Cct>Act	p.P624T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	624	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P624T(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCTCTGGGGCCTCTGAAAGT	0.413000										HNSCC(39;0.1)			124	284					9.82225e-59	1.84359e-58	0.870114	1	0
OR6K3	391114	broad.mit.edu	37	1	158687393	158687393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:158687393G>T	ENST00000368146.1	-	1	560	c.561C>A	c.(559-561)ccC>ccA	p.P187P	OR6K3_ENST00000368145.1_Silent_p.P171P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P187P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGATTTGGTTGGGCCCACAGA	0.512000													185	489					3.16392e-82	6.23006e-82	0.870114	1	0
MUC17	140453	broad.mit.edu	37	7	100678604	100678604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:100678604G>T	ENST00000306151.4	+	3	3971	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1303	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V1303F(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACACTAA	0.458000													130	357					1.18812e-89	2.35236e-89	0.870114	1	0
NEB	4703	broad.mit.edu	37	2	152512820	152512820	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:152512820G>A	ENST00000397345.3	-	49	6544	c.6342C>T	c.(6340-6342)caC>caT	p.H2114H	NEB_ENST00000604864.1_Silent_p.H2114H|NEB_ENST00000172853.10_Silent_p.H2114H|NEB_ENST00000409198.1_Silent_p.H2114H|NEB_ENST00000603639.1_Silent_p.H2114H|NEB_ENST00000427231.2_Silent_p.H2114H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2114					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.H2114H(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGGCAGGGGTGTGGTAGCTGG	0.478000													95	290					0	0	0.870114	0	0
HDAC2	3066	broad.mit.edu	37	6	114270215	114270215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:114270215C>T	ENST00000519065.1	-	8	1145	c.769G>A	c.(769-771)Gct>Act	p.A257T	HDAC2_ENST00000398283.2_Missense_Mutation_p.A351T|HDAC2_ENST00000519108.1_Missense_Mutation_p.A227T|HDAC2_ENST00000368632.2_Missense_Mutation_p.A227T			Q92769	HDAC2_HUMAN	histone deacetylase 2	257	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.A257T(2)|p.A351T(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	AATACCACAGCACTAGGTTGA	0.378000													88	216					0	0	0.870114	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157231	12157231	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:12157231G>T	ENST00000263932.2	+	3	447	c.225G>T	c.(223-225)ctG>ctT	p.L75L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	75					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.L75L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACTACCTGGATGAGGCCG	0.577000													46	111					6.23363e-37	1.05485e-36	0.870114	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125850370	125850370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:125850370C>A	ENST00000393434.2	-	13	1829	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D494Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D504Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D393Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	494	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.D494Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCATGAGATCTGCCAACCTG	0.647000													17	51					1.00905e-13	1.3214e-13	0.575678	1	0
PHF14	9678	broad.mit.edu	37	7	11022088	11022088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:11022088G>T	ENST00000403050.3	+	3	654	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	68	Glu/Lys-rich.						zinc ion binding	p.E68*(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TATTTTAGAAGAAGAACTGAA	0.313000													15	29					3.52763e-06	4.00045e-06	0.520397	1	0
EPYC	1833	broad.mit.edu	37	12	91358003	91358003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:91358003G>T	ENST00000261172.3	-	7	991	c.899C>A	c.(898-900)cCt>cAt	p.P300H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	300					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.P300H(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GAGATTAATAGGGTTTCCATC	0.393000													41	59					3.70713e-34	6.1577e-34	0.870114	1	0
STARD7	56910	broad.mit.edu	37	2	96858109	96858109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:96858109C>G	ENST00000337288.5	-	6	1224	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	281	START.					mitochondrion		p.E281Q(2)|p.E206Q(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AAACTCACCTCATCAAATGAC	0.493000													78	241					0	0	0.870114	0	0
BDP1	55814	broad.mit.edu	37	5	70797393	70797393	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:70797393A>T	ENST00000380675.2	+	0	2224				BDP1_ENST00000358731.4_Missense_Mutation_p.H654L			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.H654L(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCACAGAACCACGTGGAAAAA	0.343000													27	117					0	0	0.760397	0	0
OR2G3	81469	broad.mit.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247769640C>A	ENST00000320002.2	+	1	785	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F251L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGATTATATTCTATGGCACCA	0.488000													30	157					9.21846e-06	1.04104e-05	0.769981	1	0
PDE6C	5146	broad.mit.edu	37	10	95425130	95425130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:95425130A>T	ENST00000371447.3	+	22	2670	c.2532A>T	c.(2530-2532)tcA>tcT	p.S844S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	844					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S844S(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTGAAGATTCAGGAGGTGGTG	0.318000													58	163					0	0	0.870114	0	0
TGFBR3	7049	broad.mit.edu	37	1	92174229	92174229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:92174229C>A	ENST00000212355.4	-	14	2743	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E760*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E759*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	760					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E760*(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTTTAGATTCTGCTTCATGG	0.493000													56	237					1.73933e-33	2.86711e-33	0.870114	1	0
NDRG2	57447	broad.mit.edu	37	14	21486634	21486634	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:21486634G>T	ENST00000556147.1	-	13	1783	c.843C>A	c.(841-843)acC>acA	p.T281T	NDRG2_ENST00000397855.3_Silent_p.T238T|NDRG2_ENST00000397847.2_Silent_p.T270T|NDRG2_ENST00000555158.1_Silent_p.T267T|NDRG2_ENST00000350792.3_Silent_p.T267T|NDRG2_ENST00000403829.3_Silent_p.T277T|NDRG2_ENST00000554104.1_Silent_p.T194T|NDRG2_ENST00000397851.2_Silent_p.T281T|NDRG2_ENST00000397853.3_Silent_p.T281T|NDRG2_ENST00000298687.5_Silent_p.T281T|NDRG2_ENST00000298684.5_Silent_p.T238T|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000360463.3_Silent_p.T267T|NDRG2_ENST00000554143.1_Silent_p.T267T|NDRG2_ENST00000553503.1_Silent_p.T267T|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397858.1_Silent_p.T281T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	281					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		p.T281T(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACGAGGTCTGGGTGGGGTCCA	0.582000													14	33					9.16793e-09	1.09228e-08	0.520397	1	0
CROT	54677	broad.mit.edu	37	7	87011391	87011391	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:87011391G>T	ENST00000331536.3	+	12	1249	c.1062_splice	c.e12-1	p.G355_splice	CROT_ENST00000419147.2_Splice_Site_p.G383_splice|CROT_ENST00000442291.1_Splice_Site_p.G355_splice	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	355					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.G355V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TATTTTCAGGGTTCAGAGAAG	0.333000													88	170					3.59239e-61	6.82554e-61	0.870114	1	0
ELF2	1998	broad.mit.edu	37	4	139980627	139980627	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:139980627G>C	ENST00000394235.2	-	10	1758	c.1256C>G	c.(1255-1257)cCa>cGa	p.P419R	ELF2_ENST00000358635.3_Missense_Mutation_p.P371R|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379549.2_Missense_Mutation_p.P342R|ELF2_ENST00000265495.4_Missense_Mutation_p.P419R|ELF2_ENST00000379550.1_Missense_Mutation_p.P431R|ELF2_ENST00000510408.1_Missense_Mutation_p.P359R	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	431					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P419R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GACTACCTTTGGAGAGGTCGC	0.438000													9	326					0	0	0.335167	0	0
PROM2	150696	broad.mit.edu	37	2	95945675	95945675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:95945675G>T	ENST00000317620.9	+	11	1490	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	PROM2_ENST00000403131.2_Missense_Mutation_p.G453C|PROM2_ENST00000542147.1_Missense_Mutation_p.G453C|PROM2_ENST00000317668.4_Missense_Mutation_p.G453C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	453						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G453C(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGCATCTGGGGCCTGTCTGC	0.642000													3	26					0.004672	0.00488395	0.115264	1	0
KDM3A	55818	broad.mit.edu	37	2	86678331	86678331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:86678331A>G	ENST00000409556.1	+	5	813	c.448A>G	c.(448-450)Ata>Gta	p.I150V	KDM3A_ENST00000312912.5_Missense_Mutation_p.I150V|KDM3A_ENST00000542128.1_Missense_Mutation_p.I98V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I150V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	150					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.I150V(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTTGAAGCCTATACAGGTAAA	0.363000													7	53					0	0	0.278610	0	0
IRF3	3661	broad.mit.edu	37	19	50163052	50163052	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:50163052G>C	ENST00000600911.1	-	6	1413	c.1021C>G	c.(1021-1023)Ccg>Gcg	p.P341A	IRF3_ENST00000598808.1_Silent_p.A233A|IRF3_ENST00000601291.1_Missense_Mutation_p.P385A|IRF3_ENST00000596822.1_Missense_Mutation_p.P68A|IRF3_ENST00000309877.7_Silent_p.A379A|IRF3_ENST00000599223.1_Silent_p.A252A|IRF3_ENST00000593922.1_Silent_p.A233A|IRF3_ENST00000377135.4_Silent_p.A252A|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000599144.1_Silent_p.A233A|IRF3_ENST00000596765.1_Silent_p.A106A|IRF3_ENST00000377139.3_Silent_p.A379A|IRF3_ENST00000597198.1_Silent_p.A379A|IRF3_ENST00000600022.1_Silent_p.A106A			Q14653	IRF3_HUMAN	interferon regulatory factor 3	0	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A379A(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCCTACCCGGGCCATTTCTA	0.607000													3	23					0	0	0.150653	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044273	90044273	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:90044273C>A	ENST00000462693.1	+	0	224																											CAGCAGAGGCCAGGCCAGCCT	0.537000													51	319					2.02796e-37	3.44785e-37	0.870114	1	0
TGM7	116179	broad.mit.edu	37	15	43585794	43585794	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:43585794T>A	ENST00000452443.2	-	2	50	c.46A>T	c.(46-48)Agc>Tgc	p.S16C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	16					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S16C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCTGGAGCTCTGCAGGTCG	0.652000													3	12					0	0	0.115264	0	0
HMCN1	83872	broad.mit.edu	37	1	185892747	185892747	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:185892747A>G	ENST00000271588.4	+	8	1476	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q416R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	416					response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q416R(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACCTCTTCCAGAGAGTATCA	0.358000													37	95					0	0	0.834066	0	0
CADPS	8618	broad.mit.edu	37	3	62751567	62751567	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:62751567G>T	ENST00000383710.4	-	2	883	c.534C>A	c.(532-534)aaC>aaA	p.N178K	CADPS_ENST00000357948.3_Missense_Mutation_p.N178K|CADPS_ENST00000283269.9_Missense_Mutation_p.N178K|CADPS_ENST00000490353.2_Missense_Mutation_p.N178K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	178					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.N178K(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCTGCACAGCGTTCATGAAGG	0.517000													71	335					2.13026e-44	3.7759e-44	0.870114	1	0
TXNDC12	51060	broad.mit.edu	37	1	52486661	52486661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:52486661G>A	ENST00000371626.4	-	7	1537	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	0	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.Q155*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGCCTTTCCTGAGCTTCCTTC	0.383000													46	310					0	0	0.870114	0	0
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:98802742C>T	ENST00000266058.4	-	20	2325	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	SLIT1_ENST00000371070.4_Missense_Mutation_p.G694R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	694	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.G694R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612000													17	39					0	0	0.520397	0	0
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547000													12	60					6.31663e-08	7.37167e-08	0.479597	1	0
MIR381HG	378881	broad.mit.edu	37	14	101515025	101515025	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:101515025G>T	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							ttgttaaaaagcagattctga	0.413000													7	20					0.000157383	0.000172168	0.278610	1	0
RASSF1	11186	broad.mit.edu	37	3	50368057	50368057	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:50368057G>A	ENST00000359365.4	-	6	1084	c.978C>T	c.(976-978)tgC>tgT	p.C326C	RASSF1_ENST00000395126.3_Silent_p.C175C|RASSF1_ENST00000327761.3_Silent_p.C256C|RASSF1_ENST00000357043.2_Silent_p.C330C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	330	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	p.C256C(2)|p.C330C(2)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTTCTGGCGGCAATAGGAGT	0.612000													12	22					0	0	0.520397	0	0
PRDM5	11107	broad.mit.edu	37	4	121631535	121631535	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:121631535C>T	ENST00000264808.3	-	15	1897	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	PRDM5_ENST00000428209.2_Missense_Mutation_p.A522T|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_Missense_Mutation_p.G493D	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	553					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.A553T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGAAGGCCTTGCTGCAC	0.483000													60	208					0	0	0.870114	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574545	11574545	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:11574545G>A	ENST00000294484.6	+	4	1553	c.1415G>A	c.(1414-1416)tGc>tAc	p.C472Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C472Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	472	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.C689Y(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCAGCAGCTGCATTGCTGCC	0.582000													4	81					0	0	0.150653	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214101	11214101	+	Missense_Mutation	SNP	C	C	T	rs147671448	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:11214101C>T	ENST00000533467.1	-	1	792	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	265					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	p.E265K(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAATAGCTTCGCAGAACATG	0.418000													17	663					0	0	0.575678	0	0
TEX13B	56156	broad.mit.edu	37	X	107225113	107225113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:107225113T>A	ENST00000302917.1	-	2	337	c.245A>T	c.(244-246)cAg>cTg	p.Q82L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	82								p.Q82L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TAACTGCCCCTGCCTGTGGGC	0.617000													48	71					0	0	0.870114	0	0
STARD13	90627	broad.mit.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000255486.4_Missense_Mutation_p.R272L|STARD13_ENST00000399365.3_Missense_Mutation_p.R162L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542000													17	189					7.07596e-05	7.79579e-05	0.539581	1	0
MYO1D	4642	broad.mit.edu	37	17	31105502	31105502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:31105502C>A	ENST00000318217.5	-	3	698	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	MYO1D_ENST00000583621.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000394649.4_Nonsense_Mutation_p.E44*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.E132*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	132	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.E132*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTTACCTTTCAACCTCTGCT	0.478000													44	111					3.28156e-27	5.14316e-27	0.870114	1	0
BEND2	139105	broad.mit.edu	37	X	18209221	18209221	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:18209221G>T	ENST00000380033.4	-	8	1320	c.1188C>A	c.(1186-1188)ggC>ggA	p.G396G	BEND2_ENST00000380030.3_Silent_p.G305G	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	396								p.G396G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCATTTGTGGGCCAGATTCTG	0.378000													82	131					3.47606e-37	5.90058e-37	0.870114	1	0
COL5A1	1289	broad.mit.edu	37	9	137658860	137658860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:137658860G>T	ENST00000371817.3	+	23	2562	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	716	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E716D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGGAGAGCCTGGCCCCC	0.652000													3	4					0.004672	0.00488395	0.115264	1	0
MEPE	56955	broad.mit.edu	37	4	88767161	88767161	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:88767161G>C	ENST00000497649.2	+	6	1447	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	MEPE_ENST00000560249.1_Missense_Mutation_p.E268Q|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.E381Q|MEPE_ENST00000395102.4_Missense_Mutation_p.E412Q|MEPE_ENST00000424957.3_Missense_Mutation_p.E381Q|MEPE_ENST00000540395.1_Missense_Mutation_p.E268Q			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	381					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.E381Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACCCTCAAAAGAGAAAAGAAA	0.443000													17	93					0	0	0.539581	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	89					0	0	0.361761	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506336	178506336	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:178506336A>T	ENST00000315475.6	+	5	1209	c.903A>T	c.(901-903)cgA>cgT	p.R301R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301R(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCGTATCGATGTAGGGAAT	0.418000													27	245					0	0	0.729181	0	0
VPS35	55737	broad.mit.edu	37	16	46715307	46715307	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:46715307C>G	ENST00000299138.7	-	4	363	c.305G>C	c.(304-306)gGa>gCa	p.G102A		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	102					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.G102A(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATAATGTTTCCAGCATACTG	0.378000													31	140					0	0	0.804634	0	0
FHL5	9457	broad.mit.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:97063550G>T	ENST00000326771.2	+	7	1137	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	FHL5_ENST00000541107.1_Missense_Mutation_p.G253W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	253	LIM zinc-binding 4.					nucleus	zinc ion binding	p.G253W(2)|p.G253R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTTTAACTGCGGGAAATGCTC	0.458000													39	96					7.70917e-36	1.29242e-35	0.870114	1	0
SEPT14	346288	broad.mit.edu	37	7	55929665	55929665	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:55929665G>T	ENST00000388975.3	-	2	141	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	9					cell cycle|cell division	septin complex	GTP binding|protein binding	p.P9T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGTGTGGGCATAGCCATT	0.284000													3	29					0.00024832	0.000270282	0.150653	1	0
SH3GL3	6457	broad.mit.edu	37	15	84237394	84237394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:84237394G>T	ENST00000324537.5	+	7	817	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	SH3GL3_ENST00000434347.1_Missense_Mutation_p.G109W|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G101W|SH3GL3_ENST00000427482.2_Missense_Mutation_p.G101W			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	101	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G109W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTGAAATACGGGAAGGAGCT	0.527000													41	103					3.39706e-21	5.01228e-21	0.870114	1	0
ZNF680	340252	broad.mit.edu	37	7	63982636	63982636	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:63982636A>G	ENST00000309683.6	-	4	647	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F166L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAATTTGAAAATTTATGAAAG	0.299000													5	71					0	0	0.184627	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175884	40175884	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:40175884C>T	ENST00000307641.5	+	4	1170	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NKIRAS2_ENST00000393884.2_Silent_p.N181N|NKIRAS2_ENST00000449471.4_Silent_p.N127N|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393881.3_Silent_p.N183N|NKIRAS2_ENST00000316082.4_Silent_p.N221N|NKIRAS2_ENST00000393880.1_Silent_p.N183N|NKIRAS2_ENST00000393885.4_Silent_p.N183N	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	183	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	p.N183N(2)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCCGGAAGAACAAGGGCAGCG	0.607000													12	27					0	0	0.500413	0	0
SCN1A	6323	broad.mit.edu	37	2	166896013	166896013	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:166896013C>A	ENST00000423058.2	-	14	2526	c.2509G>T	c.(2509-2511)Ggt>Tgt	p.G837C	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G826C|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.G837C|SCN1A_ENST00000409050.1_Missense_Mutation_p.G809C|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	837						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G837C(2)|p.G826C(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAATAAAACCGTCAAAGATA	0.363000													19	88					7.41877e-09	8.87793e-09	0.608945	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791250	50791250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:50791250C>A	ENST00000263046.4	+	3	405	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P71Q|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	71	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P71Q(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCCTACTTCCCACCCCCCTAC	0.682000													6	8					0.0381472	0.038975	0.278610	1	0
PTPRD	5789	broad.mit.edu	37	9	8460541	8460541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:8460541G>T	ENST00000381196.4	-	30	4288	c.3745C>A	c.(3745-3747)Ccc>Acc	p.P1249T	PTPRD_ENST00000360074.4_Missense_Mutation_p.P1236T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P838T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1249T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P828T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P828T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P835T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1227T|PTPRD_ENST00000486161.1_Missense_Mutation_p.P838T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P835T|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1249T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1249T(4)|p.P720T(2)|p.P838T(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACACCACGGGGTCGGAGTAA	0.433000										TSP Lung(15;0.13)			37	389					1.47197e-15	1.99019e-15	0.834066	1	0
SOX14	8403	broad.mit.edu	37	3	137483858	137483858	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:137483858C>A	ENST00000306087.1	+	1	280	c.232C>A	c.(232-234)Cga>Aga	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.R78R(2)		large_intestine(2)|lung(12)	14						CTACAAGTACCGACCTCGGCG	0.612000													11	88					6.53275e-17	9.1055e-17	0.457914	1	0
LELP1	149018	broad.mit.edu	37	1	153177368	153177368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:153177368C>A	ENST00000368747.1	+	2	295	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	62	Cys/Pro-rich.							p.P62H(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTGCCCCTCGCAGTCT	0.592000													17	237					1.48734e-19	2.14771e-19	0.864702	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160273941	160273941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:160273941G>T	ENST00000264431.4	+	21	3906	c.3487G>T	c.(3487-3489)Gtg>Ttg	p.V1163L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1163	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.V1151L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTTGACTCAGTGCCAGTCTC	0.478000													33	149					2.48696e-23	3.77223e-23	0.779181	1	0
PHACTR3	116154	broad.mit.edu	37	20	58348406	58348406	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:58348406C>T	ENST00000371015.1	+	6	1291	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PHACTR3_ENST00000395636.2_Missense_Mutation_p.P234L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P234L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P234L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P272L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	275						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P275L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCTCCACACCCACGGGGTCT	0.662000													4	45					0	0	0.307466	0	0
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368000													6	160					0	0	0.361761	0	0
USH2A	7399	broad.mit.edu	37	1	216051129	216051129	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:216051129C>T	ENST00000366943.2	-	43	9038	c.8652G>A	c.(8650-8652)caG>caA	p.Q2884Q	USH2A_ENST00000307340.3_Silent_p.Q2884Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2884	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q2884Q(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATAAAGCCACTGAGTTCCTG	0.383000										HNSCC(13;0.011)			131	390					0	0	0.870114	0	0
MEP1A	4224	broad.mit.edu	37	6	46806811	46806811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:46806811G>T	ENST00000230588.4	+	14	2188	c.2179G>T	c.(2179-2181)Gct>Tct	p.A727S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	727					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A727S(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGAGGCACGGCTGGCGTGAT	0.602000													48	178					1.11015e-26	1.73742e-26	0.870114	1	0
OR3A3	8392	broad.mit.edu	37	17	3324705	3324705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:3324705G>T	ENST00000291231.1	+	1	844	c.844G>T	c.(844-846)Ggg>Tgg	p.G282W		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G282W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAAGGATAAGGGGGTTGGGGT	0.507000													114	252					6.85551e-66	1.31874e-65	0.870114	1	0
BBS9	27241	broad.mit.edu	37	7	33545221	33545221	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:33545221G>A	ENST00000242067.6	+	20	2783	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	BBS9_ENST00000355070.2_Silent_p.A749A|BBS9_ENST00000354265.4_Silent_p.A719A|BBS9_ENST00000350941.3_Silent_p.A714A|BBS9_ENST00000396127.2_Silent_p.A719A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	754					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.A754A(4)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGGAAGCGGCATTTCTGC	0.498000									Bardet-Biedl syndrome				15	141					0	0	0.539581	0	0
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248059311C>G	ENST00000537741.1	+	3	680	c.423C>G	c.(421-423)tgC>tgG	p.C141W	OR2W3_ENST00000360358.3_Missense_Mutation_p.C141W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141W(2)|p.C141*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGCTCTGCCGGGGCTTGG	0.627000													27	104					0	0	0.681144	0	0
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:25835674G>T	ENST00000280701.3	+	3	1168	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	OXSM_ENST00000420173.2_Missense_Mutation_p.A274S	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453000													33	96					4.14481e-20	6.0172e-20	0.819951	1	0
TAS1R1	80835	broad.mit.edu	37	1	6639557	6639557	+	Nonsense_Mutation	SNP	C	C	A	rs145637880	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:6639557C>A	ENST00000333172.6	+	6	2632	c.2439C>A	c.(2437-2439)taC>taA	p.Y813*	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Y559*	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	813					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.Y813*(2)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTAAGTGCTACGTGATCCTCT	0.617000													5	28					0.014758	0.0152509	0.184627	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51961521	51961521	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51961521G>T	ENST00000321424.3	-	1	187	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L41M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L41M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	41	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L41M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACACACAGGCCCTCCTGC	0.597000													37	136					2.24893e-16	3.10267e-16	0.847076	1	0
OR6C6	283365	broad.mit.edu	37	12	55688351	55688351	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:55688351G>T	ENST00000358433.2	-	1	665	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T222T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTTCAGAATGGTCTTAATAA	0.398000													8	391					1.12685e-05	1.26464e-05	0.307466	1	0
SMOC1	64093	broad.mit.edu	37	14	70490078	70490078	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:70490078G>T	ENST00000381280.4	+	11	1458	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	SMOC1_ENST00000361956.3_Missense_Mutation_p.R402L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	402	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R402L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAATGTGCCCGGCGTTTCACC	0.527000													95	328					1.14165e-66	2.20001e-66	0.870114	1	0
MIR521-2	574481	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:54219926C>A	ENST00000384818.1	+	0	79					NR_030203.1																						AGAGTGTTACCGTGTGAGAAA	0.428000													27	52					1.7881e-09	2.15647e-09	0.729181	1	0
TEX2	55852	broad.mit.edu	37	17	62272302	62272302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:62272302C>A	ENST00000258991.3	-	3	1882	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	TEX2_ENST00000583097.1_Nonsense_Mutation_p.E600*|TEX2_ENST00000584379.1_Nonsense_Mutation_p.E600*			Q8IWB9	TEX2_HUMAN	testis expressed 2	600					signal transduction|sphingolipid metabolic process	integral to membrane		p.E600*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAGGTGACCTCTGGCTTGGGT	0.443000													42	114					1.56989e-16	2.17416e-16	0.870114	1	0
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:71114727G>C	ENST00000304954.3	+	4	186	c.100G>C	c.(100-102)Gat>Cat	p.D34H		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	34						extracellular region	protein binding	p.D34H(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATGAGAATGATGAAAGACC	0.308000													31	157					0	0	0.779181	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816575	80816575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:80816575G>T	ENST00000466387.1	+	19	2878	c.2154G>T	c.(2152-2154)atG>atT	p.M718I	CTNNA2_ENST00000402739.4_Missense_Mutation_p.M718I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M752I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M718I|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M397I|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M718I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	718					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.M718I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAAGCAGATGTGTATGATCA	0.458000													106	408					3.6033e-41	6.23382e-41	0.870114	1	0
RGS22	26166	broad.mit.edu	37	8	101051202	101051202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:101051202T>C	ENST00000360863.6	-	14	2317	c.2123A>G	c.(2122-2124)tAc>tGc	p.Y708C	RGS22_ENST00000523437.1_Missense_Mutation_p.Y696C|RGS22_ENST00000523287.1_Missense_Mutation_p.Y527C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	708					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.Y708C(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTTTCTTGGTAGAAAAGCTG	0.358000													26	194					0	0	0.729181	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257955	114257955	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:114257955A>T	ENST00000306507.5	+	1	1295	c.1122A>T	c.(1120-1122)ggA>ggT	p.G374G		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	374					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G374G(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATCAGGAGGAGGACTGCGCC	0.687000													4	49					0	0	0.150653	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974501	129974501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:129974501G>T	ENST00000259351.5	+	15	1606	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	RALGPS1_ENST00000373434.1_Missense_Mutation_p.G405W|RALGPS1_ENST00000424082.2_Missense_Mutation_p.G405W	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	447	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G447W(2)|p.G405W(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAAGGAAGGGCGGAAGCC	0.592000													3	28					0.115264	0.116555	0.115264	1	0
NDST3	9348	broad.mit.edu	37	4	119158234	119158234	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:119158234C>A	ENST00000296499.5	+	10	2380	c.1977C>A	c.(1975-1977)gtC>gtA	p.V659V	NDST3_ENST00000433996.2_3'UTR	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	659	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.V659V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATCTAATGTCACTACCGACT	0.393000													11	70					0.411799	0.414863	0.411799	1	0
RANGAP1	5905	broad.mit.edu	37	22	41657531	41657531	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:41657531C>A	ENST00000455915.2	-	5	2003	c.534G>T	c.(532-534)aaG>aaT	p.K178N	RANGAP1_ENST00000407260.4_Intron|RANGAP1_ENST00000405486.1_Missense_Mutation_p.K178N|RANGAP1_ENST00000356244.3_Missense_Mutation_p.K178N			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.K178N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCAGAGGCTTGCCTTGGG	0.582000													9	24					0.00244969	0.00259337	0.457914	1	0
BMP7	655	broad.mit.edu	37	20	55748235	55748235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:55748235C>A	ENST00000450594.2	-	6	1673	c.1167G>T	c.(1165-1167)tgG>tgT	p.W389C	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000395863.3_Intron|BMP7_ENST00000460817.1_Intron			P18075	BMP7_HUMAN	bone morphogenetic protein 7	247					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TGACCACACCCCAAGATGGCG	0.617000													14	56					1.00905e-13	1.3214e-13	0.575678	1	0
COBL	23242	broad.mit.edu	37	7	51111277	51111277	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:51111277C>A	ENST00000395542.2	-	10	1639	c.1455G>T	c.(1453-1455)acG>acT	p.T485T	COBL_ENST00000265136.7_Silent_p.T403T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	403								p.T403T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGTCCTCGGTCGTGTCCTCCG	0.607000													51	95					2.41709e-19	3.48099e-19	0.870114	1	0
ERN2	10595	broad.mit.edu	37	16	23713521	23713521	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:23713521T>C	ENST00000256797.4	-	11	1467	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	ERN2_ENST00000457008.2_Silent_p.A385A	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	385					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.A433A(2)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTCTTGTCTCTGCAGTTCCAC	0.622000													8	70					0	0	0.278610	0	0
AADACL2	344752	broad.mit.edu	37	3	151474962	151474962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:151474962G>A	ENST00000356517.3	+	5	895	c.786G>A	c.(784-786)tgG>tgA	p.W262*	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	262						extracellular region|integral to membrane	carboxylesterase activity	p.W262*(2)|p.W240*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTTCCCTGGGCAATGAGAA	0.413000													117	295					0	0	0.870114	0	0
GPR63	81491	broad.mit.edu	37	6	97247592	97247592	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:97247592C>A	ENST00000229955.3	-	2	361	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	GPR63_ENST00000417980.1_Missense_Mutation_p.V6L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	6						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V6L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCAGTCAACACTGCCGAGAAG	0.463000													112	366					1.46217e-58	2.73966e-58	0.870114	1	0
NID1	4811	broad.mit.edu	37	1	236195859	236195859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:236195859G>T	ENST00000264187.6	-	6	1461	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NID1_ENST00000366595.3_Missense_Mutation_p.S460Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	460	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S460Y(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TACTACGTAAGAGTGGAGGTC	0.552000													27	63					1.13719e-10	1.40431e-10	0.729181	1	0
DAB2	1601	broad.mit.edu	37	5	39376907	39376907	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:39376907C>A	ENST00000320816.6	-	12	2449	c.1982G>T	c.(1981-1983)cGg>cTg	p.R661L	DAB2_ENST00000509337.1_Missense_Mutation_p.R640L|DAB2_ENST00000545653.1_Missense_Mutation_p.R640L|DAB2_ENST00000339788.6_Missense_Mutation_p.R443L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	661	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.R661L(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGGTGGCTGCCGCAGTTGGAA	0.512000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	65					0.014758	0.0152509	0.184627	1	0
ZBED4	9889	broad.mit.edu	37	22	50277734	50277734	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:50277734G>A	ENST00000216268.4	+	2	901	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	142						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.E142K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGAAGGAGTTCAGCAG	0.507000													31	69					0	0	0.788014	0	0
KIAA1468	57614	broad.mit.edu	37	18	59942667	59942667	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:59942667T>A	ENST00000256858.6	+	23	3278	c.3030T>A	c.(3028-3030)acT>acA	p.T1010T	KIAA1468_ENST00000398130.2_Silent_p.T976T			Q9P260	K1468_HUMAN	KIAA1468	976							binding	p.T976T(2)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGTCCATACTTCAGCACTCG	0.363000													39	102					0	0	0.870114	0	0
CAMK4	814	broad.mit.edu	37	5	110730473	110730473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:110730473C>A	ENST00000282356.4	+	5	850	c.452C>A	c.(451-453)gCa>gAa	p.A151E	CAMK4_ENST00000512453.1_Missense_Mutation_p.A151E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	151	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A151E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCCTGGAGGCAGTTGCTGTA	0.408000													77	265					1.49072e-33	2.46106e-33	0.870114	1	0
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:88057031C>A	ENST00000504921.2	-	4	1045	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	MEF2C_ENST00000514015.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000437473.2_Missense_Mutation_p.D125Y|MEF2C_ENST00000340208.5_Intron			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453000										HNSCC(66;0.2)			53	326					4.60343e-24	7.06163e-24	0.870114	1	0
PTPRF	5792	broad.mit.edu	37	1	44084819	44084819	+	Missense_Mutation	SNP	G	G	A	rs70937045		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:44084819G>A	ENST00000359947.4	+	27	4932	c.4592G>A	c.(4591-4593)cGa>cAa	p.R1531Q	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1531Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R890Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1531	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R1521Q(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTCCTACGACGGGTCAAG	0.627000													7	29					0	0	0.248553	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814424	106814424	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:106814424A>G	ENST00000407775.2	+	8	2364	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H573R|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H436R|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	705					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.H705R(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACATGGTCCACAAACAGTAT	0.517000													45	74					0	0	0.870114	0	0
USP8	9101	broad.mit.edu	37	15	50741619	50741619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:50741619G>T	ENST00000433963.1	+	5	772	c.272G>T	c.(271-273)gGa>gTa	p.G91V	USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Missense_Mutation_p.G91V|USP8_ENST00000396444.3_Missense_Mutation_p.G91V	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	91	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G91V(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCAATACTTGGACCTGGAAAC	0.303000													8	38					2.61681e-11	3.27631e-11	0.457914	1	0
STXBP4	252983	broad.mit.edu	37	17	53068212	53068212	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:53068212T>C	ENST00000376352.2	+	4	281	c.74T>C	c.(73-75)aTt>aCt	p.I25T	STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000434978.2_Missense_Mutation_p.I25T|STXBP4_ENST00000405898.1_Missense_Mutation_p.I25T|STXBP4_ENST00000398391.2_Intron	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	25	PDZ.					cytoplasm	calcium ion binding	p.I25T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATGATTACAATTGCCAAGGAA	0.393000													17	313					0	0	0.592651	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945446	48945446	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:48945446T>A	ENST00000263269.3	+	12	2568	c.2480T>A	c.(2479-2481)aTc>aAc	p.I827N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	827						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.I827N(2)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTCTCTGGGATCTGCCACAAT	0.567000													17	55					0	0	0.575678	0	0
OTOF	9381	broad.mit.edu	37	2	26696880	26696880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:26696880C>A	ENST00000272371.2	-	27	3513	c.3387G>T	c.(3385-3387)gtG>gtT	p.V1129V	OTOF_ENST00000403946.3_Silent_p.V1129V|OTOF_ENST00000402415.3_Silent_p.V439V|OTOF_ENST00000339598.3_Silent_p.V382V|OTOF_ENST00000338581.6_Silent_p.V382V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1129					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.V439V(2)|p.V1129V(2)|p.V382V(2)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGCTGAGCACGGGCCGGA	0.642000													2	5					0.115264	0.116555	0.115264	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854254	178854254	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:178854254G>C	ENST00000367635.3	+	12	1286	c.948G>C	c.(946-948)gtG>gtC	p.V316V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Silent_p.V281V|RALGPS2_ENST00000367634.2_Silent_p.V316V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	316					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAAAAGTGTGGCAGCTGAAG	0.448000													34	64					0	0	0.853193	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172847	207172847	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:207172847G>A	ENST00000374423.3	+	5	3981	c.3595G>A	c.(3595-3597)Gta>Ata	p.V1199I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1199							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGGTTCTGAAGTAAGTTTTGA	0.418000													5	174					0	0	0.278610	0	0
ESR2	2100	broad.mit.edu	37	14	64699947	64699947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:64699947G>A	ENST00000341099.4	-	9	1918	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.R410C|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000542956.1_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	501	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R501C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTGCACCCGCGAAGCACGTGG	0.562000													10	393					0	0	0.387290	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136969	108136969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:108136969G>T	ENST00000374720.3	+	13	1832	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	SLC44A1_ENST00000374723.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V321L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	529						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.V529L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTTTGCGAGTGGCTACCAT	0.393000													109	310					7.82945e-61	1.48239e-60	0.870114	1	0
GABRB1	2560	broad.mit.edu	37	4	47427876	47427876	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:47427876G>T	ENST00000295454.3	+	9	1558	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	GABRB1_ENST00000538619.1_Silent_p.G352G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	422					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G422G(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCGGCACGGGGTACCCAGCA	0.627000													12	65					2.61681e-11	3.27631e-11	0.457914	1	0
POLQ	10721	broad.mit.edu	37	3	121209249	121209249	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:121209249C>A	ENST00000264233.5	-	16	2657	c.2529G>T	c.(2527-2529)cgG>cgT	p.R843R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	843					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R978R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCACTGCCTTCCGGGCACTAC	0.443000								DNA polymerases (catalytic subunits)					65	261					2.73218e-42	4.76482e-42	0.870114	1	0
CSMD1	64478	broad.mit.edu	37	8	2967787	2967787	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:2967787C>A	ENST00000602557.1	-	44	7059	c.6504G>T	c.(6502-6504)ccG>ccT	p.P2168P	CSMD1_ENST00000400186.3_Silent_p.P2168P|CSMD1_ENST00000542608.1_Silent_p.P2167P|CSMD1_ENST00000520002.1_Silent_p.P2168P|CSMD1_ENST00000537824.1_Silent_p.P2167P|CSMD1_ENST00000602723.1_Silent_p.P2168P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2168	CUB 13.					integral to membrane		p.P2167P(2)|p.P1896P(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCAGGATCGGATACTCAT	0.502000													8	23					3.07112e-06	3.49005e-06	0.387290	1	0
C22orf42	150297	broad.mit.edu	37	22	32550243	32550243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:32550243G>T	ENST00000382097.3	-	2	367	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	99								p.L99I(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATATTTTCTAGAGGCCAAATC	0.378000													23	76					3.93418e-24	6.04357e-24	0.796494	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951975	119951975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:119951975G>T	ENST00000307142.4	+	4	2241	c.2045G>T	c.(2044-2046)gGa>gTa	p.G682V	SYNPO2_ENST00000429713.2_Missense_Mutation_p.G682V|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G682V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	682						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.G682V(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAAGAACAGGAATATTGCAG	0.498000													9	113					7.48243e-07	8.61155e-07	0.335167	1	0
CNGB3	54714	broad.mit.edu	37	8	87645122	87645122	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:87645122C>A	ENST00000320005.5	-	11	1226		c.e11-1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCAGATACCTGTGAAAACA	0.303000													47	114					5.7761e-15	7.74198e-15	0.870114	1	0
GRM8	2918	broad.mit.edu	37	7	126173694	126173694	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:126173694G>T	ENST00000339582.2	-	9	2550	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	GRM8_ENST00000444921.2_Missense_Mutation_p.S581Y|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S581Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	581					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S581Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCCAGGGAGAATGCCACTC	0.512000										HNSCC(24;0.065)			13	136					2.61681e-11	3.27631e-11	0.457914	1	0
CDH12	1010	broad.mit.edu	37	5	21765146	21765146	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:21765146G>A	ENST00000382254.1	-	12	2542	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	CDH12_ENST00000504376.2_Missense_Mutation_p.P486S|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.P446S|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	486	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P486S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTCTGGAGGAAATTCATTT	0.338000										HNSCC(59;0.17)			14	319					0	0	0.520397	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337510	22337510	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22337510C>A	ENST00000390436.2	+	0	324																											AGAGACCCAACCTGAAGACTC	0.493000													101	260					1.2656e-43	2.22508e-43	0.870114	1	0
OR2B11	127623	broad.mit.edu	37	1	247614463	247614463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247614463C>A	ENST00000318749.6	-	1	845	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q274H(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAAATTTGCCCTGCTCTTGGG	0.493000													94	339					1.21964e-59	2.29318e-59	0.870114	1	0
GPR132	29933	broad.mit.edu	37	14	105518393	105518393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:105518393G>T	ENST00000329797.3	-	4	992	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GPR132_ENST00000539291.2_Silent_p.G27G|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.G18G	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	27					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G27G(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGGCGGAGAGGCCCAGGGAGG	0.637000													11	22					3.27435e-08	3.84612e-08	0.457914	1	0
DLL3	10683	broad.mit.edu	37	19	39989617	39989617	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:39989617G>T	ENST00000205143.4	+	1	10	c.3G>T	c.(1-3)atG>atT	p.M1I	DLL3_ENST00000356433.5_Start_Codon_SNP_p.M1I|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	1					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.M1I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAAGGCCATGGTCTCCCCAC	0.642000													5	28					0.000602214	0.0006496	0.184627	1	0
KRT5	3852	broad.mit.edu	37	12	52910579	52910579	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:52910579A>G	ENST00000252242.4	-	7	1671	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	427	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.D427D(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCCTGGCATCCTTGAGGG	0.617000													108	146					0	0	0.870114	0	0
JMY	133746	broad.mit.edu	37	5	78610543	78610543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:78610543G>T	ENST00000396137.4	+	9	2990	c.2528G>T	c.(2527-2529)aGa>aTa	p.R843I	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	843					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.R489I(2)|p.R843I(2)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GATCTGCCTAGAAAGGAGGGG	0.592000													22	118					1.32181e-22	1.99654e-22	0.717897	1	0
RYR2	6262	broad.mit.edu	37	1	237798280	237798280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:237798280G>A	ENST00000366574.2	+	44	7097	c.6780G>A	c.(6778-6780)ccG>ccA	p.P2260P	RYR2_ENST00000542537.1_Silent_p.P2244P|RYR2_ENST00000360064.6_Silent_p.P2258P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2260	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P2258P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGTGAGCCGGATCTAGAAA	0.423000													6	69					0	0	0.248553	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136384	220136384	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:220136384T>C	ENST00000490341.1	+	0	854					NR_003063.1																						TGGCAGAGATTACCAATGCCT	0.552000													3	68					0	0	0.335167	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951377	130951377	+	Missense_Mutation	SNP	C	C	G	rs148936100	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:130951377C>G	ENST00000312988.7	-	4	1138	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	346					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGTCGGGCACCAATCCACAA	0.542000													3	79					0	0	0.115264	0	0
ATP2B3	492	broad.mit.edu	37	X	152814180	152814180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:152814180G>A	ENST00000370186.1	+	8	1490	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*	ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.W402*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	402					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.W402*(6)|p.W388*(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGACATGGCTGGCAGAGT	0.562000													7	50					0	0	0.335167	0	0
USP54	159195	broad.mit.edu	37	10	75290091	75290091	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:75290091C>T	ENST00000339859.4	-	13	1738	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Silent_p.R396R|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Silent_p.R546R|USP54_ENST00000319786.7_Silent_p.R546R			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	546					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R546R(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGGCAGGGTCCTAGGAGGTT	0.507000													20	95					0	0	0.624587	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301896	139301896	+	Silent	SNP	G	G	A	rs3841201		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:139301896G>A	ENST00000298537.7	-	4	662	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	SDCCAG3_ENST00000357365.3_Silent_p.L174L|SDCCAG3_ENST00000371725.3_Silent_p.L101L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	174						cytoplasm		p.L174L(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCTCATCCAGGAGGTCACCA	0.647000													4	3					0	0	0.184627	0	0
APOB	338	broad.mit.edu	37	2	21239499	21239499	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:21239499G>T	ENST00000233242.1	-	21	3271	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1048					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1048T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAATGTCATGGTAGCCTCAG	0.468000													29	250					2.48696e-23	3.77223e-23	0.779181	1	0
GANAB	23193	broad.mit.edu	37	11	62398602	62398602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:62398602C>A	ENST00000346178.4	-	11	1131	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	GANAB_ENST00000356638.3_Missense_Mutation_p.Q350H|GANAB_ENST00000540933.1_Missense_Mutation_p.Q253H|GANAB_ENST00000534779.1_Missense_Mutation_p.Q258H	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	350					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.Q350H(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAACATCTGTCTGTGGGGTCT	0.547000													110	323					1.22493e-33	2.02534e-33	0.870114	1	0
FCRLA	84824	broad.mit.edu	37	1	161680698	161680698	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:161680698C>A	ENST00000540926.1	+	3	539	c.246C>A	c.(244-246)tcC>tcA	p.S82S	FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000309691.6_Silent_p.S76S|FCRLA_ENST00000367959.2_Silent_p.S99S|FCRLA_ENST00000546024.1_Silent_p.S93S|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000236938.6_Silent_p.S93S|FCRLA_ENST00000367953.3_Silent_p.S82S|FCRLA_ENST00000367949.2_Silent_p.S93S|FCRLA_ENST00000367950.1_Silent_p.S53S|FCRLA_ENST00000349527.4_Silent_p.S76S			Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGATTGTGTCCTATGGTGAGG	0.552000													43	117					3.50607e-19	5.02923e-19	0.870114	1	0
NNMT	4837	broad.mit.edu	37	11	114183054	114183054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:114183054G>T	ENST00000535401.1	+	5	914	c.650G>T	c.(649-651)gGc>gTc	p.G217V	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_Missense_Mutation_p.G22V|NNMT_ENST00000541754.1_Missense_Mutation_p.G22V|NNMT_ENST00000299964.3_Missense_Mutation_p.G217V|NNMT_ENST00000545255.1_Missense_Mutation_p.G22V			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	217					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.G217V(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTCCCCCTGGGCCGGGAGGCA	0.547000													8	72					0.000673444	0.000723551	0.361761	1	0
OR6C1	390321	broad.mit.edu	37	12	55714510	55714510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:55714510C>A	ENST00000379668.2	+	1	165	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43I(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAACCTGACCCTTATCACAAT	0.423000													66	85					2.23399e-28	3.56321e-28	0.870114	1	0
BLOC1S4	55330	broad.mit.edu	37	4	6718442	6718442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:6718442C>T	ENST00000320776.3	+	1	601	c.506C>T	c.(505-507)gCg>gTg	p.A169V		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino									p.A169V(2)									TTCCCCAGGGCGTTCAAGAAG	0.657000													3	26					0	0	0.150653	0	0
ABCA10	10349	broad.mit.edu	37	17	67151277	67151277	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:67151277C>A	ENST00000269081.4	-	31	4486	c.3576_splice	c.e31-1	p.E1193_splice	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1193					transport	integral to membrane	ATP binding|ATPase activity	p.E1193*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGACTGGTTCCTGGAAAACA	0.323000													32	74					1.61004e-24	2.48386e-24	0.870114	1	0
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:154490316G>T	ENST00000369454.3	-	2	714	c.414C>A	c.(412-414)gcC>gcA	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488000													73	110					3.80779e-57	7.07348e-57	0.870114	1	0
AGO3	192669	broad.mit.edu	37	1	36437711	36437711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:36437711G>T	ENST00000373191.4	+	4	748	c.399G>T	c.(397-399)tgG>tgT	p.W133C	AGO3_ENST00000397828.2_Missense_Mutation_p.W133C|AGO3_ENST00000324350.5_Missense_Mutation_p.W133C|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3									p.W133C(2)									GGGTGAGTTGGCACCTACTGC	0.483000													30	184					9.78485e-24	1.49253e-23	0.769981	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691975	31691975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:31691975G>T	ENST00000360542.3	-	1	632	c.379C>A	c.(379-381)Ccg>Acg	p.P127T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	127						intermediate filament		p.P127T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGAGCAGCGGCCTCAGTGGA	0.537000													15	351					8.60227e-14	1.13337e-13	0.500413	1	0
PAQR9	344838	broad.mit.edu	37	3	142681802	142681802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:142681802G>T	ENST00000340634.3	-	1	376	c.377C>A	c.(376-378)gCg>gAg	p.A126E	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	126						integral to membrane	receptor activity	p.A126E(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACTCCCGACGCGTAGCACCA	0.652000													7	22					7.48243e-07	8.61155e-07	0.335167	1	0
ASB15	142685	broad.mit.edu	37	7	123257664	123257664	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:123257664C>A	ENST00000451558.1	+	9	845	c.324C>A	c.(322-324)acC>acA	p.T108T	ASB15_ENST00000434204.1_Silent_p.T108T|ASB15_ENST00000275699.3_Silent_p.T108T|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Silent_p.T108T|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Silent_p.T108T|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATTCAAGACCTGTGATGGAG	0.388000													78	222					2.72676e-27	4.28603e-27	0.870114	1	0
RICTOR	253260	broad.mit.edu	37	5	39021164	39021164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:39021164C>A	ENST00000357387.3	-	3	202	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G58C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	58					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G58C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCAGATGGCCTAGCTTTCTC	0.328000													63	480					1.45978e-39	2.50943e-39	0.870114	1	0
ZNF292	23036	broad.mit.edu	37	6	87966098	87966098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:87966098G>T	ENST00000369577.3	+	8	2794	c.2751G>T	c.(2749-2751)ttG>ttT	p.L917F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L912F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L917F(2)|p.L772F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACCATTGTCAAATGGTT	0.443000													60	167					2.36135e-34	3.92834e-34	0.870114	1	0
VCAN	1462	broad.mit.edu	37	5	82837202	82837202	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:82837202G>C	ENST00000265077.3	+	8	8945	c.8380G>C	c.(8380-8382)Gag>Cag	p.E2794Q	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.E1807Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2794	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2794Q(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTGTAACAGAGGTGCCTGA	0.433000													25	358					0	0	0.750413	0	0
GARNL3	84253	broad.mit.edu	37	9	130101923	130101923	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:130101923G>A	ENST00000373387.4	+	13	1380		c.e13-1		GARNL3_ENST00000435213.2_Splice_Site|GARNL3_ENST00000314904.5_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCTCTACTTAGGCTGAAAATA	0.438000													12	144					0	0	0.435327	0	0
SRGAP2	23380	broad.mit.edu	37	1	206611329	206611329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:206611329C>T	ENST00000414007.1	+	12	1229	c.1229C>T	c.(1228-1230)gCt>gTt	p.A410V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	550					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.A410V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GACCCCCTGGCTGGGGACCAG	0.542000													56	186					0	0	0.870114	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486483	76486483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:76486483C>A	ENST00000307431.8	+	9	1532	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTAGCACTGCCAGACTTCTC	0.428000													15	124					4.14922e-12	5.30532e-12	0.500413	1	0
SPEF2	79925	broad.mit.edu	37	5	35691149	35691149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:35691149G>T	ENST00000440995.2	+	11	1535	c.1535G>T	c.(1534-1536)gGa>gTa	p.G512V	SPEF2_ENST00000509059.1_Missense_Mutation_p.G512V|SPEF2_ENST00000356031.3_Missense_Mutation_p.G512V|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	512					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.G512V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACATGGTTGGAGAGTGGGCC	0.338000													14	59					1.5739e-10	1.93917e-10	0.500413	1	0
HEATR5A	25938	broad.mit.edu	37	14	31778370	31778370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:31778370G>T	ENST00000543095.2	-	29	4644	c.4460C>A	c.(4459-4461)gCa>gAa	p.A1487E	HEATR5A_ENST00000389961.3_Missense_Mutation_p.A1481E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A1481E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A1194E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1481							binding	p.A1481E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTAGTCTCTGCTGTGTAGAA	0.368000													42	159					3.68337e-26	5.74797e-26	0.870114	1	0
CAMTA1	23261	broad.mit.edu	37	1	7700548	7700548	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:7700548A>G	ENST00000303635.7	+	7	806	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N200S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.N200S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCTCCATCAACACCGACAAG	0.627000			T	WWTR1	epitheliod hemangioendothelioma								5	95					0	0	0.217242	0	0
FBN2	2201	broad.mit.edu	37	5	127648343	127648343	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:127648343C>T	ENST00000508053.1	-	43	5836	c.4862G>A	c.(4861-4863)tGc>tAc	p.C1621Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C1621Y			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.C1621Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGGGGGGCATGTCTCACA	0.512000													24	878					0	0	0.681144	0	0
FSIP2	401024	broad.mit.edu	37	2	186672293	186672293	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:186672293C>A	ENST00000343098.5	+	17	18527	c.18527C>A	c.(18526-18528)tCt>tAt	p.S6176Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6087Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.S785Y(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGGTTCAGTCTGTTTATAAT	0.333000													65	134					3.13765e-25	4.8823e-25	0.870114	1	0
CCDC136	64753	broad.mit.edu	37	7	128450286	128450286	+	Missense_Mutation	SNP	C	C	A	rs116868322	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:128450286C>A	ENST00000297788.4	+	12	2261	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	632						integral to membrane	protein binding	p.Q632K(4)|p.Q748K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACAGAACCAAGACTGTGT	0.468000													30	25					2.47316e-13	3.22702e-13	0.779181	1	0
ACSL1	2180	broad.mit.edu	37	4	185697670	185697670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:185697670C>A	ENST00000515030.1	-	7	1049	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ACSL1_ENST00000513317.1_Missense_Mutation_p.G242W|ACSL1_ENST00000504900.1_Missense_Mutation_p.G242W|ACSL1_ENST00000437665.3_Missense_Mutation_p.G71W|ACSL1_ENST00000507295.1_Missense_Mutation_p.G208W|ACSL1_ENST00000281455.2_Missense_Mutation_p.G242W|ACSL1_ENST00000504342.1_Missense_Mutation_p.G242W|ACSL1_ENST00000454703.2_Missense_Mutation_p.G71W			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	242					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G242W(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTTCCACCCCACACCTCTGG	0.522000													25	103					7.01153e-11	8.71813e-11	0.717897	1	0
CHD5	26038	broad.mit.edu	37	1	6173020	6173020	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:6173020G>A	ENST00000262450.3	-	34	5050	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	CHD5_ENST00000378021.1_Silent_p.L508L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1651					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L1651L(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCAGCTCCAGCTTGTCCAGG	0.577000													3	31					0	0	0.115264	0	0
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:86838537C>A	ENST00000441037.2	+	16	2229	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R	AGBL1_ENST00000421325.2_Silent_p.R712R|AGBL1_ENST00000389298.3_Silent_p.R443R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468000													81	156					5.2429e-30	8.46209e-30	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	113988292	113988292	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113988292G>T	ENST00000297405.5	-	7	1360	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S372R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S332R|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	372						integral to membrane|plasma membrane		p.S372R(2)|p.S332R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCAGGTGTGCTAGCAACAG	0.483000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	157					2.94398e-08	3.46558e-08	0.557998	1	0
TRIB2	28951	broad.mit.edu	37	2	12880889	12880889	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:12880889T>A	ENST00000155926.4	+	3	2420	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198K	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACGTCAACATGGAAGAGAAC	0.512000													49	180					0	0	0.870114	0	0
AGL	178	broad.mit.edu	37	1	100336081	100336081	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:100336081G>T	ENST00000294724.4	+	6	1268	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	AGL_ENST00000370161.2_Missense_Mutation_p.G248W|AGL_ENST00000361302.3_Missense_Mutation_p.G248W|AGL_ENST00000370163.3_Missense_Mutation_p.G264W|AGL_ENST00000370165.3_Missense_Mutation_p.G264W|AGL_ENST00000361522.4_Missense_Mutation_p.G247W|AGL_ENST00000361915.3_Missense_Mutation_p.G264W	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	264					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.G264W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTGCAGAAGGGAAATACAA	0.383000													35	123					1.41504e-22	2.13141e-22	0.859065	1	0
G2E3	55632	broad.mit.edu	37	14	31077153	31077153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:31077153G>T	ENST00000206595.6	+	12	1532	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	G2E3_ENST00000553504.1_Missense_Mutation_p.G490C|G2E3_ENST00000438909.2_Missense_Mutation_p.G414C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	460	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.G460C(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTAGTTCACGGTGGTCCTTC	0.348000													13	137					4.36969e-10	5.33526e-10	0.435327	1	0
KIAA1377	57562	broad.mit.edu	37	11	101786030	101786030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:101786030G>T	ENST00000263468.8	+	1	285	c.15G>T	c.(13-15)agG>agT	p.R5S	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	5							protein binding	p.R5S(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGGCGGGGAGGCCCGGAACCC	0.701000													13	11					7.07596e-05	7.79579e-05	0.539581	1	0
KAT6B	23522	broad.mit.edu	37	10	76736089	76736089	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:76736089G>T	ENST00000287239.4	+	8	2482		c.e8+1		KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B						histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.?(2)									CAGGATGATGGTAAGCAAAAG	0.473000													20	86					2.41591e-17	3.37604e-17	0.681144	1	0
TTLL4	9654	broad.mit.edu	37	2	219611895	219611895	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:219611895G>A	ENST00000392102.1	+	9	2484	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	TTLL4_ENST00000258398.4_Missense_Mutation_p.R715H|TTLL4_ENST00000457313.1_Missense_Mutation_p.R550H|TTLL4_ENST00000442769.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	715	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.R715H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGCAGCAGCCGCCAAAAGTGG	0.542000													3	37					0	0	0.115264	0	0
STIM1	6786	broad.mit.edu	37	11	4104157	4104157	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:4104157C>T	ENST00000300737.4	+	9	1752	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y	STIM1_ENST00000527651.1_Missense_Mutation_p.H395Y|STIM1_ENST00000533977.1_Missense_Mutation_p.H222Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	395					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.H395Y(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGCACCTTCCACGTGGCCCA	0.433000													74	230					0	0	0.870114	0	0
SYNE1	23345	broad.mit.edu	37	6	152763330	152763330	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:152763330G>T	ENST00000367255.5	-	31	4489	c.3888C>A	c.(3886-3888)atC>atA	p.I1296I	SYNE1_ENST00000423061.1_Silent_p.I1303I|SYNE1_ENST00000413186.2_Silent_p.I1296I|SYNE1_ENST00000448038.1_Silent_p.I1303I|SYNE1_ENST00000341594.5_Silent_p.I1362I|SYNE1_ENST00000367253.4_Silent_p.I1296I|SYNE1_ENST00000265368.4_Silent_p.I1296I|SYNE1_ENST00000367248.3_Silent_p.I1286I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I1296I(4)|p.I1303I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCTGCGCGATCTGCTGCT	0.557000										HNSCC(10;0.0054)			37	76					1.01817e-39	1.75586e-39	0.847076	1	0
LBP	3929	broad.mit.edu	37	20	36993396	36993396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:36993396C>A	ENST00000217407.2	+	8	1072	c.911C>A	c.(910-912)aCa>aAa	p.T304K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	304					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T304K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTCTCCATCACAGATGACATG	0.453000													27	199					2.81731e-10	3.45935e-10	0.750413	1	0
CNOT1	23019	broad.mit.edu	37	16	58616700	58616700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:58616700T>A	ENST00000317147.5	-	10	1373	c.1041A>T	c.(1039-1041)gaA>gaT	p.E347D	CNOT1_ENST00000569240.1_Missense_Mutation_p.E347D|CNOT1_ENST00000441024.2_Missense_Mutation_p.E347D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	347					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E347D(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTCACCAGTTCTTTAAGAA	0.383000													5	34					0	0	0.184627	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605956	13605956	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:13605956A>G	ENST00000040738.5	-	10	2703	c.2568T>C	c.(2566-2568)ggT>ggC	p.G856G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	856	Lys-rich.						DNA binding	p.G856G(2)									GTTGCTTGGAACCCAGAGAAT	0.368000													3	82					0	0	0.184627	0	0
FUT8	2530	broad.mit.edu	37	14	66135974	66135974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:66135974G>C	ENST00000360689.5	+	7	2338	c.611G>C	c.(610-612)tGc>tCc	p.C204S	FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Missense_Mutation_p.C41S|FUT8_ENST00000394586.2_Missense_Mutation_p.C204S|FUT8_ENST00000394585.1_Missense_Mutation_p.C204S|FUT8_ENST00000358307.2_Missense_Mutation_p.C75S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	204					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.C204S(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCAAGGACTGCAGCAAAGCC	0.408000													24	81					0	0	0.706142	0	0
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:78959150G>C	ENST00000370756.3	+	2	959	c.722G>C	c.(721-723)aGa>aCa	p.R241T	PTGFR_ENST00000370758.1_Missense_Mutation_p.R241T|PTGFR_ENST00000370757.3_Missense_Mutation_p.R241T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	241					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R241T(4)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423000													22	98					0	0	0.706142	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181997	140181997	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140181997C>T	ENST00000522353.2	+	1	1215	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y405Y|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.Y405Y(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATTACTACTCATTGGTGC	0.627000													52	129					0	0	0.870114	0	0
OR2C3	81472	broad.mit.edu	37	1	247695356	247695356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247695356C>A	ENST00000366487.3	-	2	819	c.458G>T	c.(457-459)gGt>gTt	p.G153V	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTGGTCAGACCCCCCAGCCA	0.562000													12	24					1.49906e-05	1.67369e-05	0.457914	1	0
FREM1	158326	broad.mit.edu	37	9	14784421	14784421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:14784421C>A	ENST00000380881.4	-	25	5207	c.4392G>T	c.(4390-4392)caG>caT	p.Q1464H	FREM1_ENST00000380880.3_Missense_Mutation_p.Q1463H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q1463H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1463					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q1464H(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAAACTGTCTGCCCCACTA	0.458000													52	137					1.4709e-25	2.29206e-25	0.870114	1	0
NLRP14	338323	broad.mit.edu	37	11	7092508	7092508	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:7092508A>T	ENST00000299481.4	+	12	3597	c.3251A>T	c.(3250-3252)gAa>gTa	p.E1084V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1084					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E1084V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCATAATGAAGAAGATGTG	0.363000													9	139					0	0	0.361761	0	0
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:21631013C>T	ENST00000328843.6	+	14	2516	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R829C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R829C(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAGTTGAGCGCACACAGAA	0.607000									Kartagener syndrome				28	161					0	0	0.750413	0	0
RPGR	6103	broad.mit.edu	37	X	38146246	38146246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:38146246C>A	ENST00000378505.2	-	15	2182	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L	RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	658	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.W669L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cTCATCTTGCCAGTGTTCTGC	0.532000													9	24					0.00829132	0.00863413	0.361761	1	0
ITIH2	3698	broad.mit.edu	37	10	7773794	7773794	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:7773794C>A	ENST00000358415.4	+	13	1648	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	ITIH2_ENST00000379587.4_Silent_p.S483S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	494					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S494S(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCAGGTCTCCACTCCATTGC	0.373000													54	303					6.05568e-20	8.77952e-20	0.870114	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768708	31768708	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:31768708T>G	ENST00000355459.2	+	1	317	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	102						intermediate filament		p.F102V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTCTAGGCTTTGGATCCAG	0.597000													5	67					0	0	0.248553	0	0
MUSK	4593	broad.mit.edu	37	9	113563158	113563158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:113563158C>A	ENST00000416899.2	+	13	2602	c.2476C>A	c.(2476-2478)Ctc>Atc	p.L826I	MUSK_ENST00000189978.5_Missense_Mutation_p.L834I|MUSK_ENST00000374448.4_Missense_Mutation_p.L834I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	834	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L834I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTGTACAATCTCATGCGTCT	0.542000													43	140					3.39706e-21	5.01228e-21	0.870114	1	0
CREB3L2	64764	broad.mit.edu	37	7	137600584	137600584	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:137600584C>A	ENST00000330387.6	-	3	845	c.495_splice	c.e3+1	p.G165_splice	CREB3L2_ENST00000458726.1_Splice_Site_p.G102_splice|CREB3L2_ENST00000456390.1_Splice_Site_p.G165_splice|CREB3L2_ENST00000452463.1_Splice_Site_p.G165_splice	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	165					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G165V(2)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGCATACCCCAGTGTTCAT	0.458000			T	FUS	fibromyxoid sarcoma								73	151					7.63117e-38	1.30151e-37	0.870114	1	0
NUF2	83540	broad.mit.edu	37	1	163298635	163298635	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:163298635G>T	ENST00000271452.3	+	5	554		c.e5-1		NUF2_ENST00000490881.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site|NUF2_ENST00000524800.1_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.?(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCATCTTCAAGGGACTCATTT	0.333000													87	294					6.00251e-64	1.14854e-63	0.870114	1	0
NUGGC	389643	broad.mit.edu	37	8	27887919	27887919	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:27887919C>A	ENST00000413272.2	-	16	2067	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V	NUGGC_ENST00000341513.6_Missense_Mutation_p.G642V	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G642V(2)									CTCCAGGCCCCCGAGGATGGC	0.562000													8	21					9.70103e-10	1.17651e-09	0.361761	1	0
GLB1L2	89944	broad.mit.edu	37	11	134239735	134239735	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:134239735C>T	ENST00000535456.2	+	11	1252	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.T355M|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.T355M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	355					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.T355M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCGATTACACGGCCAAGTAC	0.552000													4	149					0	0	0.150653	0	0
COL15A1	1306	broad.mit.edu	37	9	101817383	101817383	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:101817383G>T	ENST00000375001.3	+	33	3454		c.e33-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCTTTTTCAGGTCCTCCACT	0.353000													17	255					1.10513e-12	1.42823e-12	0.624587	1	0
PTGFRN	5738	broad.mit.edu	37	1	117509740	117509740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:117509740T>C	ENST00000393203.2	+	6	1994	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	616	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.L616P(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGTGAAGCTGGAGAATTGG	0.498000													50	649					0	0	0.870114	0	0
CUBN	8029	broad.mit.edu	37	10	17169921	17169921	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:17169921G>A	ENST00000377833.4	-	3	320	c.255C>T	c.(253-255)atC>atT	p.I85I	CUBN_ENST00000377823.1_Silent_p.I85I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	85					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTTTTCTGGATCTAATTTT	0.284000													9	70					0	0	0.361761	0	0
SMC4	10051	broad.mit.edu	37	3	160120494	160120494	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:160120494A>T	ENST00000357388.3	+	4	800	c.349A>T	c.(349-351)Agt>Tgt	p.S117C	SMC4_ENST00000360111.2_Missense_Mutation_p.S117C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.S117C|SMC4_ENST00000469762.1_Missense_Mutation_p.S92C|SMC4_ENST00000344722.5_Missense_Mutation_p.S117C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	117					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.S117C(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCCAAATGGCAGTGGCAAATC	0.323000													30	32					0	0	0.812448	0	0
AFF2	2334	broad.mit.edu	37	X	147743879	147743879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:147743879G>T	ENST00000370460.2	+	3	1110	c.631G>T	c.(631-633)Gag>Tag	p.E211*	AFF2_ENST00000370457.5_Nonsense_Mutation_p.E207*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.E207*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.E207*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	211					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E211*(4)|p.E211K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTTGAAGAGTCAAACCC	0.433000													183	258					2.40723e-144	4.8548e-144	0.870114	1	0
EPHA7	2045	broad.mit.edu	37	6	93964397	93964397	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:93964397C>T	ENST00000369303.4	-	14	2684	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	834	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E834K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAGGTCTTTCTCCATAAGAC	0.398000													21	102					0	0	0.667858	0	0
SEC13	6396	broad.mit.edu	37	3	10354321	10354321	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:10354321C>G	ENST00000397117.1	-	4	807	c.216G>C	c.(214-216)tgG>tgC	p.W72C	SEC13_ENST00000337354.4_Missense_Mutation_p.W89C|SEC13_ENST00000397109.3_Missense_Mutation_p.W72C|SEC13_ENST00000383801.2_Missense_Mutation_p.W132C|SEC13_ENST00000350697.3_Missense_Mutation_p.W86C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	86					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.W86C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTTCCTCTCTCCAGATAATGA	0.582000													27	74					0	0	0.693898	0	0
STPG2	285555	broad.mit.edu	37	4	98865110	98865110	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:98865110A>G	ENST00000295268.3	-	8	1071	c.982T>C	c.(982-984)Ttg>Ctg	p.L328L		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.L328L(1)									TTGTTAGTCAAGTTAGGTAAT	0.318000													11	430					0	0	0.435327	0	0
PLCE1	51196	broad.mit.edu	37	10	96005857	96005857	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:96005857C>A	ENST00000260766.3	+	8	3209	c.2575C>A	c.(2575-2577)Cag>Aag	p.Q859K	PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551K|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551K|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGATGTGCACCAGTTCCTGCT	0.582000													78	88					8.64784e-51	1.56616e-50	0.870114	1	0
CNTN4	152330	broad.mit.edu	37	3	2908612	2908612	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:2908612C>A	ENST00000397461.1	+	7	1015	c.631C>A	c.(631-633)Cca>Aca	p.P211T	CNTN4_ENST00000427331.1_Missense_Mutation_p.P211T|CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.P211T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	211					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P211T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCACCTACACCACTAATATT	0.383000													21	67					4.26978e-12	5.4402e-12	0.654019	1	0
KCNA4	3739	broad.mit.edu	37	11	30032330	30032330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:30032330C>A	ENST00000328224.6	-	2	3129	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	632						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGTCATCCCCCTTTCCCTGAC	0.483000													58	147					7.48145e-19	1.07033e-18	0.870114	1	0
OR1J4	26219	broad.mit.edu	37	9	125281931	125281931	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:125281931A>T	ENST00000340750.1	+	1	512	c.512A>T	c.(511-513)gAc>gTc	p.D171V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D171V(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTTGTGCTGACAACACCATC	0.512000													15	165					0	0	0.457914	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486484	76486484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:76486484C>G	ENST00000307431.8	+	9	1533	c.1148C>G	c.(1147-1149)cCa>cGa	p.P383R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGCACTGCCAGACTTCTCT	0.433000													15	123					0	0	0.500413	0	0
THSD7A	221981	broad.mit.edu	37	7	11582602	11582602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:11582602C>A	ENST00000423059.3	-	5	1847	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	532	TSP type-1 5.					integral to membrane		p.Q532H(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTCCCTTGCTGATCATTAC	0.388000										HNSCC(18;0.044)			31	115					1.22384e-17	1.72355e-17	0.769981	1	0
TRIM55	84675	broad.mit.edu	37	8	67064863	67064863	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:67064863G>T	ENST00000315962.4	+	8	1609		c.e8+1		TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Splice_Site|TRIM55_ENST00000353317.5_Splice_Site	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGTGACACAGGTAACCCCTCC	0.542000													33	140					4.14481e-20	6.0172e-20	0.819951	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936027	94936027	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94936027A>T	ENST00000337425.5	-	2	279	c.205T>A	c.(205-207)Ttt>Att	p.F69I	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.F51I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.F69I|SERPINA9_ENST00000546329.1_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	51					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.F69I(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CGGAAGGCAAAGTCGGTGTTG	0.582000													144	385					0	0	0.870114	0	0
COL3A1	1281	broad.mit.edu	37	2	189849689	189849689	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:189849689G>T	ENST00000304636.3	+	2	452		c.e2+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.?(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAACTGCTGTGAGTTTAAA	0.388000													11	25					6.42651e-13	8.34522e-13	0.387290	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121623757	121623757	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:121623757C>G	ENST00000393386.2	+	7	1069	c.658C>G	c.(658-660)Ctt>Gtt	p.L220V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L220V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	220	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.L220V(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTGAACCTTCTGCCAAA	0.393000													140	298					0	0	0.870114	0	0
DACH2	117154	broad.mit.edu	37	X	85404014	85404014	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:85404014C>A	ENST00000373131.1	+	1	553	c.390C>A	c.(388-390)atC>atA	p.I130I	DACH2_ENST00000373125.4_Silent_p.I130I	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	130	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.I130I(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGTCCGGATCCTCCGCGGGC	0.552000													7	23					7.48243e-07	8.61155e-07	0.335167	1	0
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:11187673G>T	ENST00000337414.4	-	9	2633	c.1761C>A	c.(1759-1761)atC>atA	p.I587I	ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000413512.3_Silent_p.I396I|ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000380736.1_Silent_p.I384I|ARHGAP6_ENST00000303025.6_Silent_p.I384I	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	587	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.I587I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493000													128	194					3.58306e-76	7.00444e-76	0.870114	1	0
LBP	3929	broad.mit.edu	37	20	36993349	36993349	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:36993349G>T	ENST00000217407.2	+	8	1025	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	288					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T288T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTTCAACACGGCCAGCCTGG	0.473000													41	227					1.02687e-29	1.65245e-29	0.864702	1	0
MYOM3	127294	broad.mit.edu	37	1	24388533	24388533	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:24388533G>A	ENST00000330966.7	-	33	4008	c.3846C>T	c.(3844-3846)caC>caT	p.H1282H	MYOM3_ENST00000338909.5_Silent_p.H172H|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Silent_p.H1279H			Q5VTT5	MYOM3_HUMAN	myomesin 3	1279								p.H1279H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTCCAGGATGTGAAGCCAGA	0.532000													51	406					0	0	0.870114	0	0
CD163	9332	broad.mit.edu	37	12	7636091	7636091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:7636091C>A	ENST00000359156.4	-	12	3162	c.2960G>T	c.(2959-2961)gGg>gTg	p.G987V	CD163_ENST00000432237.2_Missense_Mutation_p.G987V|CD163_ENST00000396620.3_Missense_Mutation_p.G1020V|CD163_ENST00000541972.1_Missense_Mutation_p.G975V|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CGGTCCAGTCCCCTGACCAAA	0.517000													49	147					2.12129e-23	3.23116e-23	0.870114	1	0
ALPK2	115701	broad.mit.edu	37	18	56203934	56203934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:56203934G>T	ENST00000361673.3	-	5	3698	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1162							ATP binding|protein serine/threonine kinase activity	p.A523D(2)|p.A1162D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGTGCAGCAGATGTCGT	0.577000													21	76					2.81731e-10	3.45935e-10	0.750413	1	0
OR14A16	284532	broad.mit.edu	37	1	247978554	247978554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247978554C>A	ENST00000357627.1	-	1	477	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160C(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAGAAGGTGCCAGCTGTGTGC	0.473000													103	513					6.25825e-54	1.14876e-53	0.870114	1	0
MUC16	94025	broad.mit.edu	37	19	9047921	9047921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:9047921G>T	ENST00000397910.4	-	5	33913	c.33710C>A	c.(33709-33711)tCa>tAa	p.S11237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11239	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6870*(2)|p.S11237*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGACCCATGAGTCTATGGT	0.483000													49	211					6.60958e-23	1.00114e-22	0.870114	1	0
SSFA2	6744	broad.mit.edu	37	2	182784139	182784139	+	Missense_Mutation	SNP	G	G	T	rs150716378	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:182784139G>T	ENST00000431877.2	+	14	3289	c.3110G>T	c.(3109-3111)cGc>cTc	p.R1037L	SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.R1037L|SSFA2_ENST00000409136.1_Missense_Mutation_p.R546L|SSFA2_ENST00000320370.7_Missense_Mutation_p.R1037L|SSFA2_ENST00000428267.2_Missense_Mutation_p.R884L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1037						cytoplasm|plasma membrane	actin binding	p.R1037L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532000													7	222					0.00448238	0.00471761	0.307466	1	0
CPED1	79974	broad.mit.edu	37	7	120911455	120911455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:120911455C>A	ENST00000310396.5	+	22	3306	c.2839C>A	c.(2839-2841)Cag>Aag	p.Q947K		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.Q947K(1)									AGAGTTTCTACAGGGGAAGTG	0.328000													214	425					2.26059e-118	4.54215e-118	0.870114	1	0
ADCY5	111	broad.mit.edu	37	3	123046503	123046503	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:123046503T>A	ENST00000462833.1	-	7	3121	c.1909A>T	c.(1909-1911)Atc>Ttc	p.I637F	ADCY5_ENST00000491190.1_Missense_Mutation_p.I270F|ADCY5_ENST00000309879.5_Missense_Mutation_p.I287F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	637					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I637F(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGGTCTCGATACTGTGCTCC	0.622000													13	41					0	0	0.435327	0	0
COL5A1	1289	broad.mit.edu	37	9	137646119	137646119	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:137646119G>T	ENST00000371817.3	+	16	2188	c.1773_splice	c.e16-1	p.G592_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	592	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G592C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCTGGCAGGGTCCTCGAGG	0.627000													5	8					0.000602214	0.0006496	0.184627	1	0
FAT3	120114	broad.mit.edu	37	11	92531039	92531039	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:92531039A>T	ENST00000298047.6	+	9	4877	c.4860A>T	c.(4858-4860)ctA>ctT	p.L1620L	FAT3_ENST00000525166.1_Silent_p.L1470L|FAT3_ENST00000409404.2_Silent_p.L1620L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1620	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L1620L(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCGGTCCTAGGCATCATCA	0.428000										TCGA Ovarian(4;0.039)			136	253					0	0	0.870114	0	0
TRIML1	339976	broad.mit.edu	37	4	189068505	189068505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:189068505C>A	ENST00000332517.3	+	6	1526	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.C462*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCACCATCTGCTCACTGAACA	0.562000													9	30					1.3612e-06	1.55341e-06	0.479597	1	0
WDR36	134430	broad.mit.edu	37	5	110446486	110446486	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:110446486G>T	ENST00000506538.2	+	14	2182		c.e14-1		WDR36_ENST00000513710.2_Splice_Site|WDR36_ENST00000505303.1_Splice_Site	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36						response to stimulus|rRNA processing|visual perception	small-subunit processome		p.?(2)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTACCTTACAGCTCACAAGGG	0.373000													9	35					0.000673444	0.000723551	0.361761	1	0
NCOA2	10499	broad.mit.edu	37	8	71056877	71056877	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:71056877C>G	ENST00000452400.2	-	13	2993	c.2812_splice	c.e13+1	p.G938_splice	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	938					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.G938R(2)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCCTTACCTGTGCTACTG	0.363000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	99					0	0	0.479597	0	0
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:131797656G>T	ENST00000286355.5	-	16	5218	c.3126C>A	c.(3124-3126)gcC>gcA	p.A1042A	ADCY8_ENST00000377928.3_Silent_p.A911A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCTGACACGGCCATGTAGG	0.498000										HNSCC(32;0.087)			102	377					1.54771e-57	2.88002e-57	0.870114	1	0
CIT	11113	broad.mit.edu	37	12	120263085	120263085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:120263085C>A	ENST00000392521.2	-	8	896	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	CIT_ENST00000261833.7_Missense_Mutation_p.G281C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	281	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.G281C(4)|p.G282C(2)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGTCCAGGCCGTAGGTGCCT	0.527000													124	170					1.7381e-60	3.2851e-60	0.870114	1	0
NBEA	26960	broad.mit.edu	37	13	35733541	35733541	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:35733541C>A	ENST00000540320.1	+	22	3767	c.3233C>A	c.(3232-3234)cCg>cAg	p.P1078Q	NBEA_ENST00000379939.2_Missense_Mutation_p.P1078Q|NBEA_ENST00000310336.4_Missense_Mutation_p.P1078Q|NBEA_ENST00000400445.3_Missense_Mutation_p.P1078Q			Q8NFP9	NBEA_HUMAN	neurobeachin	1078						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.P1078Q(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATTTATCACCGGAGACTTTA	0.403000													11	85					2.31682e-05	2.57346e-05	0.479597	1	0
TEX13B	56156	broad.mit.edu	37	X	107224574	107224574	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:107224574G>A	ENST00000302917.1	-	3	767	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	225								p.L225L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAATAGCTCCGAGGGGCTGCC	0.592000													20	125					0	0	0.557998	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634713	206634713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:206634713G>T	ENST00000414007.1	+	19	2744	c.2744G>T	c.(2743-2745)gGt>gTt	p.G915V				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1055					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.G915V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAGCCCTGGTGTCAACTCA	0.502000													70	165					2.0464e-58	3.82772e-58	0.870114	1	0
NOBOX	135935	broad.mit.edu	37	7	144097391	144097391	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:144097391G>A	ENST00000467773.1	-	5	858	c.859C>T	c.(859-861)Cta>Tta	p.L287L	NOBOX_ENST00000483238.1_Silent_p.L287L|NOBOX_ENST00000223140.5_Silent_p.L202L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	287					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.L287L(4)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCTCTAGCTCCTCCAGC	0.507000													26	48					0	0	0.760397	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255192	140255192	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140255192G>T	ENST00000398631.2	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.V45V(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTTCGTGGGCCGCATCG	0.657000													10	16					3.35478e-16	4.60484e-16	0.479597	1	0
SNIP1	79753	broad.mit.edu	37	1	38005774	38005774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:38005774C>A	ENST00000296215.6	-	3	982	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	304	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A304S(2)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGAAAGACCGCATGCTGCTTT	0.428000													61	522					1.15098e-32	1.88579e-32	0.870114	1	0
ARFIP1	27236	broad.mit.edu	37	4	153802270	153802270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:153802270G>T	ENST00000451320.2	+	6	731	c.567G>T	c.(565-567)atG>atT	p.M189I	ARFIP1_ENST00000405727.2_Missense_Mutation_p.M157I|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000353617.2_Missense_Mutation_p.M189I|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Missense_Mutation_p.M157I			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	189	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.M189I(4)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTTCCAGATGGTACATACCC	0.348000													40	137					4.54978e-40	7.85872e-40	0.870114	1	0
PACS1	55690	broad.mit.edu	37	11	66001697	66001697	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:66001697G>A	ENST00000320580.4	+	17	2121	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S	PACS1_ENST00000529757.1_Silent_p.S232S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	696					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S696S(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAGTCGCTCGGAGCCACCAG	0.567000													23	136					0	0	0.654019	0	0
ALMS1	7840	broad.mit.edu	37	2	73827999	73827999	+	Missense_Mutation	SNP	T	T	G	rs45528134		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:73827999T>G	ENST00000264448.6	+	18	11971	c.11860T>G	c.(11860-11862)Tcc>Gcc	p.S3954A	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.S3912A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3954					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAGAAGAATTCCCATGAAGG	0.403000													7	54					0	0	0.608945	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124423	142124423	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142124423C>A	ENST00000390376.2	-	0	54																											CCAGCATTCACTGGACCTGCA	0.547000													80	117					2.46668e-60	4.65403e-60	0.870114	1	0
ENPP3	5169	broad.mit.edu	37	6	131962666	131962666	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:131962666G>C	ENST00000414305.1	+	3	478	c.150G>C	c.(148-150)aaG>aaC	p.K50N	ENPP3_ENST00000427148.2_Missense_Mutation_p.K16N|ENPP3_ENST00000543135.1_Missense_Mutation_p.K16N|ENPP3_ENST00000358229.5_Missense_Mutation_p.K50N|ENPP3_ENST00000357639.3_Missense_Mutation_p.K50N|ENPP3_ENST00000470930.1_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	50	SMB 1.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.K50N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AACTGGAAAAGCAAGGTATAC	0.423000													4	164					0	0	0.150653	0	0
ATXN1	6310	broad.mit.edu	37	6	16328052	16328052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:16328052C>A	ENST00000244769.4	-	8	1426	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ATXN1_ENST00000436367.1_Missense_Mutation_p.G164W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	164					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.G164W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGTGGCCCCTGCGGCCGAG	0.637000													20	21					9.39395e-14	1.23467e-13	0.706142	1	0
VPS16	64601	broad.mit.edu	37	20	2840774	2840774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:2840774G>T	ENST00000380445.3	+	3	289	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	VPS16_ENST00000380469.3_Missense_Mutation_p.G73C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	73					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.G73C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCTGCTTCCGGCATGCCTCT	0.577000													14	27					9.16793e-09	1.09228e-08	0.520397	1	0
TGM4	7047	broad.mit.edu	37	3	44951851	44951851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:44951851C>A	ENST00000296125.4	+	11	1665	c.1597C>A	c.(1597-1599)Caa>Aaa	p.Q533K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	533					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q533K(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCGCAGATCCAAGGTCAAGG	0.498000													42	75					1.12205e-10	1.38719e-10	0.870114	1	0
ETNPPL	64850	broad.mit.edu	37	4	109670480	109670480	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:109670480C>T	ENST00000296486.3	-	8	995	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	ETNPPL_ENST00000512646.1_Missense_Mutation_p.G223S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G275S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G241S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.G281S(2)									TGGCCGTTGCCCATCGGTTTT	0.468000													26	81					0	0	0.750413	0	0
ALK	238	broad.mit.edu	37	2	29551271	29551271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:29551271C>A	ENST00000389048.3	-	6	2265	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	453	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.Q453H(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTCACAGGCCTGCCCAAGCT	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				12	116					2.80697e-09	3.37773e-09	0.387290	1	0
LARP4B	23185	broad.mit.edu	37	10	860901	860901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:860901G>A	ENST00000316157.3	-	15	1845	c.1805C>T	c.(1804-1806)cCa>cTa	p.P602L	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	602							nucleotide binding|RNA binding	p.P602L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAAATGAGCTGGGGAGGGGGA	0.547000													7	80					0	0	0.335167	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144863409	144863409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:144863409C>A	ENST00000369359.4	-	40	6440	c.6402G>T	c.(6400-6402)caG>caT	p.Q2134H	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1998H|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1892H|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2083H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1998					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCTTCACACTGTTGCTGCA	0.522000			T	PDGFRB	MPD								9	515					1.3612e-06	1.55341e-06	0.479597	1	0
CACNA1E	777	broad.mit.edu	37	1	181689959	181689959	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:181689959A>C	ENST00000526775.1	+	15	2089	c.1924A>C	c.(1924-1926)Acc>Ccc	p.T642P	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T249P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T642P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T642P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T642P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T593P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	642					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T642P(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTTTGATACCTTCCCTGC	0.428000													12	35					0	0	0.575678	0	0
EPHA6	285220	broad.mit.edu	37	3	96706434	96706434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:96706434C>A	ENST00000389672.5	+	3	749	c.711C>A	c.(709-711)aaC>aaA	p.N237K	EPHA6_ENST00000542517.1_Missense_Mutation_p.N143K|EPHA6_ENST00000470610.2_Missense_Mutation_p.N237K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	142						integral to plasma membrane	ATP binding|ephrin receptor activity	p.N143K(4)|p.N237K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCAAGCCAAACCAGTATACAA	0.413000													176	542					2.07866e-96	4.15348e-96	0.870114	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222743	140222743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140222743C>A	ENST00000531613.1	+	1	1837	c.1837C>A	c.(1837-1839)Cca>Aca	p.P613T	PCDHA8_ENST00000378123.3_Missense_Mutation_p.P613T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1												p.P613T(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTGCAGCCAGCTGCAAG	0.687000													13	37					5.01169e-05	5.53843e-05	0.520397	1	0
BRINP3	339479	broad.mit.edu	37	1	190250721	190250721	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:190250721C>A	ENST00000367462.3	-	3	627	c.396G>T	c.(394-396)ggG>ggT	p.G132G	FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		132						extracellular region		p.G132G(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAAATGTGTCCCATATTTCT	0.453000													38	139					4.67007e-22	6.99541e-22	0.840704	1	0
APOBEC4	403314	broad.mit.edu	37	1	183617876	183617876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:183617876G>A	ENST00000308641.4	-	2	312	c.41C>T	c.(40-42)aCa>aTa	p.T14I	RGL1_ENST00000367531.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	14					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.T14I(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTTACTATTGTTCCATGATT	0.378000													53	195					0	0	0.870114	0	0
OGN	4969	broad.mit.edu	37	9	95165621	95165621	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:95165621G>T	ENST00000262551.4	-	2	489	c.69C>A	c.(67-69)acC>acA	p.T23T	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Silent_p.T23T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	23						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGTCCTGCTGGGTTGGTGGTG	0.383000													34	86					4.14481e-20	6.0172e-20	0.819951	1	0
SMURF1	57154	broad.mit.edu	37	7	98633309	98633309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:98633309A>C	ENST00000361125.1	-	17	2237	c.1918T>G	c.(1918-1920)Ttg>Gtg	p.L640V	SMURF1_ENST00000361368.2_Missense_Mutation_p.L614V|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	640	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	p.L640V(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTCGTTCAAGTCTATTTTA	0.522000													5	40					0	0	0.248553	0	0
WDR65	149465	broad.mit.edu	37	1	43638557	43638557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:43638557C>A	ENST00000372492.4	+	2	457	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	WDR65_ENST00000528956.1_Missense_Mutation_p.Q45K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	45								p.Q45K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAATGTGGATCAGAAATGGCA	0.383000													53	176					2.19297e-23	3.33565e-23	0.870114	1	0
ZC4H2	55906	broad.mit.edu	37	X	64139003	64139003	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:64139003A>T	ENST00000545618.1	-	5	1028	c.465T>A	c.(463-465)gcT>gcA	p.A155A	ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Silent_p.A160A|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.A137A			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	160							metal ion binding|protein binding	p.A160A(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTGGGCGGCAGCGGCTGCAG	0.582000													19	29					0	0	0.769981	0	0
GRM8	2918	broad.mit.edu	37	7	126173340	126173340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:126173340G>T	ENST00000339582.2	-	9	2904	c.2096C>A	c.(2095-2097)aCc>aAc	p.T699N	GRM8_ENST00000444921.2_Missense_Mutation_p.T699N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.T699N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	699					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T699N(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGGCTGAAGGTGATCACCAG	0.498000										HNSCC(24;0.065)			50	86					3.21867e-24	4.9585e-24	0.870114	1	0
CHD6	84181	broad.mit.edu	37	20	40081428	40081428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:40081428T>A	ENST00000373233.3	-	21	3452	c.3275A>T	c.(3274-3276)tAc>tTc	p.Y1092F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1092					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.Y1092F(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGCTCGGAGGTAGCGCCTGGC	0.517000													5	170					0	0	0.217242	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476788	102476788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:102476788G>T	ENST00000360184.4	+	31	6561	c.6397G>T	c.(6397-6399)Gaa>Taa	p.E2133*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2133					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.E2133*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAATCTCCCTGAACAAGAGGT	0.388000													28	50					9.17885e-22	1.37302e-21	0.779181	1	0
PI4KB	5298	broad.mit.edu	37	1	151288658	151288658	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:151288658C>A	ENST00000368875.2	-	3	916	c.336G>T	c.(334-336)gaG>gaT	p.E112D	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.E100D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E112D|PI4KB_ENST00000368873.1_Missense_Mutation_p.E100D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E100D	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	100					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.E112D(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCATCTTCCTCCTCCCTGA	0.577000													47	224					5.66675e-16	7.74885e-16	0.870114	1	0
EXT2	2132	broad.mit.edu	37	11	44228501	44228501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:44228501G>T	ENST00000395673.3	+	10	1809	c.1753G>T	c.(1753-1755)Ggt>Tgt	p.G585C	EXT2_ENST00000358681.4_Missense_Mutation_p.G562C|EXT2_ENST00000343631.3_Missense_Mutation_p.G552C|EXT2_ENST00000533608.1_Missense_Mutation_p.G552C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGCAATTTGGTTATGAGGT	0.353000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				71	319					1.4648e-57	2.73044e-57	0.870114	1	0
DDC	1644	broad.mit.edu	37	7	50596906	50596906	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:50596906C>A	ENST00000444124.2	-	5	770	c.570_splice	c.e5+1	p.Q190_splice	DDC_ENST00000380984.4_Splice_Site_p.Q190_splice|DDC_ENST00000431062.1_Intron|DDC_ENST00000426377.1_Splice_Site_p.Q112_splice|DDC_ENST00000357936.5_Splice_Site_p.Q190_splice|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	190					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Q190H(4)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACACACTCACCTGATCGGATG	0.512000													80	177					4.00701e-44	7.07927e-44	0.870114	1	0
FGB	2244	broad.mit.edu	37	4	155490753	155490753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:155490753G>A	ENST00000302068.4	+	7	1109	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.G130E	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	349	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G349E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GACTGGAAAGGAGACAAAGTA	0.413000													15	283					0	0	0.539581	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168740	32168740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:32168740C>A	ENST00000375023.3	-	23	4321	c.4183G>T	c.(4183-4185)Gac>Tac	p.D1395Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1395					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1395Y(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCGGGTGGTCAGGGCCACAG	0.637000													23	35					6.00712e-18	8.51533e-18	0.760397	1	0
NCKAP5	344148	broad.mit.edu	37	2	133554252	133554252	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:133554252C>A	ENST00000409261.1	-	12	1231	c.858G>T	c.(856-858)gaG>gaT	p.E286D	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E286D|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E286D|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E286D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	286							protein binding	p.E286D(1)|p.E125D(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTTTCCACCTCTGAAAGCA	0.408000													8	88					0.000673444	0.000723551	0.361761	1	0
OTOA	146183	broad.mit.edu	37	16	21737980	21737980	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:21737980G>T	ENST00000388958.3	+	18	2017		c.e18+1		OTOA_ENST00000286149.4_Splice_Site|OTOA_ENST00000388956.4_Splice_Site|OTOA_ENST00000388957.3_Splice_Site	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin						sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCAGTGCCTGGTAAGAAAACT	0.537000													31	190					2.87052e-16	3.95016e-16	0.812448	1	0
CCDC171	203238	broad.mit.edu	37	9	15745522	15745522	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:15745522A>C	ENST00000380701.3	+	18	2892	c.2564A>C	c.(2563-2565)aAg>aCg	p.K855T	CCDC171_ENST00000297641.3_Missense_Mutation_p.K855T	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	855								p.K855T(2)|p.K122T(2)									GAACATCAAAAGGAGCAGTTG	0.333000													133	416					0	0	0.870114	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906614	84906614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:84906614G>C	ENST00000262424.5	+	10	1222	c.998G>C	c.(997-999)cGc>cCc	p.R333P	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R332P|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R333P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1.					extracellular region|transport vesicle		p.R333P(2)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGCATATGCCGCGCCGCCATC	0.547000													25	148					0	0	0.750413	0	0
SDK1	221935	broad.mit.edu	37	7	4153708	4153708	+	Missense_Mutation	SNP	G	G	T	rs142268038		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:4153708G>T	ENST00000404826.2	+	25	3764	c.3625G>T	c.(3625-3627)Gtg>Ttg	p.V1209L	SDK1_ENST00000389531.3_Missense_Mutation_p.V1209L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1209	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.V1209L(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGAGTCCGTGGGCTACAG	0.587000													7	30					2.0095e-06	2.28601e-06	0.248553	1	0
CLASP1	23332	broad.mit.edu	37	2	122106236	122106236	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:122106236T>A	ENST00000263710.4	-	38	4654	c.4265A>T	c.(4264-4266)cAg>cTg	p.Q1422L	CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1378L|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1362L|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1361L|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1355L|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q1129L|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q1139L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1422	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.Q1422L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATGCACTGCTCCGGGTG	0.587000													13	60					0	0	0.479597	0	0
NAGPA	51172	broad.mit.edu	37	16	5078049	5078049	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:5078049C>A	ENST00000312251.3	-	6	1077	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	NAGPA_ENST00000381955.3_Missense_Mutation_p.R353L|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	353					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.R353L(2)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCCGGGACCCCGCCAGAAGTG	0.687000													6	14					0.0477658	0.0487562	0.307466	1	0
ASTL	431705	broad.mit.edu	37	2	96801117	96801117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:96801117G>C	ENST00000342380.2	-	3	215	c.216C>G	c.(214-216)ttC>ttG	p.F72L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	72					proteolysis		metalloendopeptidase activity|zinc ion binding	p.F72L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCGATGAGGAAGCTGCTCT	0.607000													4	22					0	0	0.217242	0	0
FYCO1	79443	broad.mit.edu	37	3	46021226	46021226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:46021226C>A	ENST00000296137.2	-	4	464	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	FYCO1_ENST00000535325.1_Missense_Mutation_p.G87W	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	87	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.G87W(2)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AAGCGGATCCCATCATTGGCT	0.507000													45	133					1.51926e-22	2.28204e-22	0.870114	1	0
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:203452395C>A	ENST00000343110.2	+	2	210	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P28H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647000													18	46					7.26314e-15	9.67525e-15	0.717897	1	0
IGKV1-33	28933	broad.mit.edu	37	2	89568195	89568195	+	RNA	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:89568195A>T	ENST00000473726.1	-	0	68																											CCAGAGCAGCAGGAGCCCCAG	0.527000													16	63					0	0	0.557998	0	0
GALC	2581	broad.mit.edu	37	14	88407816	88407816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:88407816C>A	ENST00000261304.2	-	15	1863	c.1757G>T	c.(1756-1758)gGt>gTt	p.G586V	GALC_ENST00000544807.2_Missense_Mutation_p.G530V|GALC_ENST00000393568.4_Missense_Mutation_p.G563V|GALC_ENST00000393569.2_Missense_Mutation_p.G560V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	586					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.G586V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATCAAAATACCACCTTTATT	0.358000													40	442					1.23713e-20	1.81792e-20	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	113246706	113246706	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113246706C>A	ENST00000297405.5	-	68	10872	c.10627_splice	c.e68-1	p.G3543_splice	CSMD3_ENST00000352409.3_Splice_Site_p.G3473_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3503_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G3374_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3543						integral to membrane|plasma membrane		p.G3503V(2)|p.G3543V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATATACCCCTGTAAAATG	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	333					8.53417e-09	1.02014e-08	0.769981	1	0
PLCB1	23236	broad.mit.edu	37	20	8770894	8770894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:8770894G>T	ENST00000378641.3	+	31	3884	c.3409G>T	c.(3409-3411)Gat>Tat	p.D1137Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.D1137Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D1137Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1137					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAGATCCTGGATGAAAAGCC	0.343000													28	108					2.47316e-13	3.22702e-13	0.779181	1	0
REG3A	5068	broad.mit.edu	37	2	79384784	79384784	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:79384784C>A	ENST00000393878.1	-	4	628	c.374G>T	c.(373-375)aGt>aTt	p.S125I	REG3A_ENST00000305165.2_Missense_Mutation_p.S125I|REG3A_ENST00000409839.3_Missense_Mutation_p.S125I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S125I(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCACATCACTGCTACTCCA	0.542000													67	225					1.34568e-36	2.26299e-36	0.870114	1	0
NHSL2	340527	broad.mit.edu	37	X	71360426	71360426	+	Missense_Mutation	SNP	G	G	T	rs140270842		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:71360426G>T	ENST00000373677.1	+	2	3192	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	NHSL2_ENST00000535692.1_Missense_Mutation_p.V644L|NHSL2_ENST00000510661.1_Missense_Mutation_p.V779L|NHSL2_ENST00000540800.1_Missense_Mutation_p.V1010L			F5H593	F5H593_HUMAN	NHS-like 2	1010								p.V1010L(2)|p.V641L(2)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAAACCCAGCGTGCTGTACCT	0.532000													8	17					0.00621372	0.00647686	0.335167	1	0
OR4B1	119765	broad.mit.edu	37	11	48238932	48238932	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:48238932T>C	ENST00000309562.2	+	1	589	c.571T>C	c.(571-573)Ttc>Ctc	p.F191L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F191L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGACACCTTCATGGAGGG	0.453000													19	572					0	0	0.608945	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688809	65688809	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:65688809C>A	ENST00000335257.6	+	9	1151	c.804C>A	c.(802-804)gtC>gtA	p.V268V	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Silent_p.V268V|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CTTCTTCCGTCCGCAGTGCGC	0.552000													8	266					0.000274275	0.000297934	0.307466	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854255	178854255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:178854255G>T	ENST00000367635.3	+	12	1287	c.949G>T	c.(949-951)Gca>Tca	p.A317S	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.A282S|RALGPS2_ENST00000367634.2_Missense_Mutation_p.A317S	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	317					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAAGTGTGGCAGCTGAAGG	0.448000													35	64					6.21074e-16	8.48201e-16	0.859065	1	0
EIF4A2	1974	broad.mit.edu	37	3	186505350	186505350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:186505350G>T	ENST00000323963.5	+	9	1040	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	EIF4A2_ENST00000356531.5_Missense_Mutation_p.V231F|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V327F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	326	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.V326F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTCAAGTCGTGTTCTGATCAC	0.398000			T	BCL6	NHL								34	123					2.68985e-26	4.20362e-26	0.870114	1	0
STK32C	282974	broad.mit.edu	37	10	134040418	134040418	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:134040418G>T	ENST00000368622.1	-	4	555	c.174C>A	c.(172-174)ggC>ggA	p.G58G	STK32C_ENST00000368625.4_Silent_p.G188G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	175							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G188G(2)|p.G175G(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAGGTCCCCGCCCAGTAGCA	0.627000													11	12					0.010729	0.0111619	0.387290	1	0
SOX5	6660	broad.mit.edu	37	12	23999036	23999036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:23999036C>A	ENST00000546136.1	-	2	325	c.323G>T	c.(322-324)gGc>gTc	p.G108V	SOX5_ENST00000381381.2_Missense_Mutation_p.G108V|SOX5_ENST00000451604.2_Missense_Mutation_p.G121V|SOX5_ENST00000541536.1_Missense_Mutation_p.G108V|SOX5_ENST00000545921.1_Missense_Mutation_p.G111V|SOX5_ENST00000541847.1_Missense_Mutation_p.G111V|SOX5_ENST00000537393.1_Missense_Mutation_p.G86V|SOX5_ENST00000309359.1_Missense_Mutation_p.G108V|SOX5_ENST00000441133.2_Missense_Mutation_p.G86V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G121V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGACTCGCCACTCTGTCG	0.498000													15	147					9.16793e-09	1.09228e-08	0.520397	1	0
FAF1	11124	broad.mit.edu	37	1	50941174	50941174	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:50941174C>A	ENST00000396153.2	-	18	2282	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	FAF1_ENST00000545823.1_Missense_Mutation_p.D369Y|FAF1_ENST00000371778.4_Missense_Mutation_p.D611Y	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	611	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.D611Y(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTACTCATCCCATGGAAAT	0.488000													12	581					5.35267e-07	6.1867e-07	0.557998	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565835	33565835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:33565835C>A	ENST00000321505.4	+	1	2015	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T612N|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T612N					KIAA1549-like									p.T612N(4)									TTTCCCAGGACCTCCTCCAGA	0.502000													26	388					7.26314e-15	9.67525e-15	0.717897	1	0
TET1	80312	broad.mit.edu	37	10	70446412	70446412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:70446412G>T	ENST00000373644.4	+	11	5561	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1784					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.K1784N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAAGCGGAAGAATAACTCAA	0.458000													30	284					1.47244e-24	2.28134e-24	0.819951	1	0
UCHL3	7347	broad.mit.edu	37	13	76134927	76134927	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:76134927C>T	ENST00000377595.3	+	3	123	c.93C>T	c.(91-93)ttC>ttT	p.F31F	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	31					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.F31F(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		ACTGGCAATTCGTTGATGTAT	0.338000													5	197					0	0	0.248553	0	0
SKA2	348235	broad.mit.edu	37	17	57232319	57232319	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:57232319G>A	ENST00000580541.1	-	1	226	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SKA2_ENST00000578105.1_Intron|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000437036.2_Silent_p.L42L|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.L42L(2)		lung(4)	4						CCCCTTACCCGAGGCGGTTTA	0.612000													4	116					0	0	0.184627	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858090	149858090	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:149858090C>A	ENST00000369155.2	-	1	142	c.101G>T	c.(100-102)cGc>cTc	p.R34L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	34					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTCTCTTTGCGGCTGCGCTT	0.572000													11	591					0.0931896	0.0947646	0.411799	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376671	75376671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:75376671C>A	ENST00000555647.1	-	8	1132	c.845G>T	c.(844-846)aGg>aTg	p.R282M	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R282M|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R251M|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R282M			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	282	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity	p.R282M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGGAGAAGTCCTAGGAGGCTC	0.642000													6	11					0.0215528	0.0221879	0.217242	1	0
CCDC102B	79839	broad.mit.edu	37	18	66564585	66564585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:66564585G>C	ENST00000360242.5	+	6	1300	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	CCDC102B_ENST00000584156.1_Missense_Mutation_p.D395H|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D395H|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D395H	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	395								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGCTTTTGGATAAGAAAAA	0.408000													8	104					0	0	0.307466	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:74899193C>A	ENST00000289575.5	+	8	1380	c.985C>A	c.(985-987)Ccc>Acc	p.P329T	SLCO2B1_ENST00000341411.4_Missense_Mutation_p.P102T|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.P102T|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.P213T|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.P185T|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P307T|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.P74T|SLCO2B1_ENST00000526660.1_3'UTR	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	329					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.P329T(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAAGGACTCTCCCTCTAAGCA	0.557000													59	77					4.13886e-29	6.64057e-29	0.870114	1	0
INSC	387755	broad.mit.edu	37	11	15243085	15243085	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:15243085G>T	ENST00000379554.3	+	8	1069	c.1023G>T	c.(1021-1023)cgG>cgT	p.R341R	INSC_ENST00000424273.1_Silent_p.R252R|INSC_ENST00000379556.3_Silent_p.R294R|INSC_ENST00000528567.1_Silent_p.R294R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Silent_p.R252R|INSC_ENST00000530161.1_Silent_p.R294R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	341					cell differentiation|nervous system development	cytoplasm	binding	p.R341R(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCCACACGGGCTGAGGCTG	0.637000													19	57					2.97696e-44	5.26805e-44	0.870114	1	0
DNAH9	1770	broad.mit.edu	37	17	11726350	11726350	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:11726350A>T	ENST00000262442.3	+	48	9313	c.9246_splice	c.e48+1	p.Q3082_splice	DNAH9_ENST00000454412.2_Splice_Site_p.Q3082_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3082	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q3082L(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTCTGCCCAGGTGAGCAAT	0.542000													14	38					0	0	0.479597	0	0
TTLL11	158135	broad.mit.edu	37	9	124751501	124751501	+	Silent	SNP	C	C	G	rs144762491		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:124751501C>G	ENST00000321582.5	-	4	1699	c.1512G>C	c.(1510-1512)acG>acC	p.T504T	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Silent_p.T504T	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	504	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.T504T(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCGGCCTCCCCGTGGGGATGT	0.577000													8	188					0	0	0.435327	0	0
HAS2	3037	broad.mit.edu	37	8	122641133	122641133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:122641133T>A	ENST00000303924.4	-	2	985	c.448A>T	c.(448-450)Aac>Tac	p.N150Y		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	150						integral to plasma membrane	hyaluronan synthase activity	p.N150Y(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGTTGTTCTTCCAGATA	0.438000													34	575					0	0	0.769981	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140559208G>A	ENST00000239444.2	+	1	1838	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672000													4	54					0	0	0.217242	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:43430713G>A	ENST00000446844.3	-	0	954				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493000													86	453					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216143975	216143975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:216143975C>A	ENST00000366943.2	-	36	7335	c.6949G>T	c.(6949-6951)Ggc>Tgc	p.G2317C	USH2A_ENST00000307340.3_Missense_Mutation_p.G2317C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2317	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2317C(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAGTGGGCCCAGAGCACAA	0.453000										HNSCC(13;0.011)			72	142					9.08522e-28	1.43639e-27	0.870114	1	0
OR4A15	81328	broad.mit.edu	37	11	55135664	55135664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:55135664C>A	ENST00000314706.3	+	1	305	c.305C>A	c.(304-306)tCt>tAt	p.S102Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S102Y(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCGTCTATTCTACTGCATTT	0.413000													132	459					1.38722e-55	2.55939e-55	0.870114	1	0
NPY4R	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:47087209C>T	ENST00000374312.1	+	3	845	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPY4R_ENST00000395716.1_Silent_p.L142L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.L142L(2)									GGCATCAGCTCATCATCAACC	0.592000													46	371					0	0	0.870114	0	0
ZP4	57829	broad.mit.edu	37	1	238051764	238051764	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:238051764C>A	ENST00000366570.4	-	4	605	c.447G>T	c.(445-447)cgG>cgT	p.R149R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	149	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R149R(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCAGTCTGTCCCGTGCTGGGA	0.473000													83	330					6.50375e-52	1.18379e-51	0.870114	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168457	142168457	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142168457G>T	ENST00000454561.2	-	0	466																											GCTATCATTAGGGAACTGGAG	0.542000													9	209					7.45023e-12	9.47018e-12	0.592651	1	0
OR52B4	143496	broad.mit.edu	37	11	4389399	4389399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:4389399C>A	ENST00000408920.2	-	1	217	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCTGTTCCCAAGAAGGGCG	0.522000													36	294					2.05212e-20	2.99925e-20	0.812448	1	0
SPEF2	79925	broad.mit.edu	37	5	35793323	35793323	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:35793323G>T	ENST00000440995.2	+	32	4602	c.4602G>T	c.(4600-4602)ctG>ctT	p.L1534L	SPEF2_ENST00000356031.3_Silent_p.L1539L|SPEF2_ENST00000303129.4_Silent_p.L336L|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1539					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.L1539L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGTTCCTGTTAGTAACCT	0.448000													91	396					1.62402e-62	3.09651e-62	0.870114	1	0
CPED1	79974	broad.mit.edu	37	7	120911454	120911454	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:120911454A>T	ENST00000310396.5	+	22	3305	c.2838A>T	c.(2836-2838)ctA>ctT	p.L946L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.L946L(1)|p.Q947K(1)									AAGAGTTTCTACAGGGGAAGT	0.328000													213	424					0	0	0.870114	0	0
USP6	9098	broad.mit.edu	37	17	5045714	5045714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:5045714G>A	ENST00000574788.1	+	25	3965	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	USP6_ENST00000304328.5_Missense_Mutation_p.G262R|USP6_ENST00000250066.6_Missense_Mutation_p.G579R|USP6_ENST00000332776.4_Missense_Mutation_p.G579R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	579					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G579R(4)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTATGAAGGGGCATATGGC	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								7	17					0	0	0.435327	0	0
SPN	6693	broad.mit.edu	37	16	29675148	29675148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:29675148G>T	ENST00000360121.3	+	2	191	c.99G>T	c.(97-99)ttG>ttT	p.L33F	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.L33F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	33					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	p.L33F(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAGAGCCTTTGGTCTCTACTA	0.577000													17	81					1.2644e-06	1.44905e-06	0.592651	1	0
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:40468681C>T	ENST00000287598.6	+	5	583	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	BUB1B_ENST00000412359.3_Missense_Mutation_p.R144C|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R130C(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				77	169					0	0	0.870114	0	0
PRKD1	5587	broad.mit.edu	37	14	30133065	30133065	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:30133065C>A	ENST00000331968.5	-	4	765	c.535_splice	c.e4-1	p.G179_splice	PRKD1_ENST00000415220.2_Splice_Site_p.G179_splice	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	179					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.G179V(4)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGACCACACCCTGGAAAGGG	0.358000													54	163					9.87224e-16	1.3398e-15	0.870114	1	0
HEPHL1	341208	broad.mit.edu	37	11	93821930	93821930	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:93821930G>C	ENST00000315765.9	+	12	2098	c.2090G>C	c.(2089-2091)aGg>aCg	p.R697T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	697	Plastocyanin-like 4.			R -> G (in Ref. 3; CAE46009).	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R701T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGTATTTTTAGGGTGTTTTGT	0.488000													4	82					0	0	0.217242	0	0
MRPL30	51263	broad.mit.edu	37	2	99804653	99804653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:99804653G>T	ENST00000338148.3	+	3	263	c.65G>T	c.(64-66)gGt>gTt	p.G22V	C2orf15_ENST00000512183.2_Missense_Mutation_p.G22V|MRPL30_ENST00000410042.1_Missense_Mutation_p.G22V|MRPL30_ENST00000409145.1_Missense_Mutation_p.G22V|MRPL30_ENST00000465432.1_Intron	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	22					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G22V(2)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAAGGTGTGGAGTCT	0.313000													18	77					7.4402e-23	1.12538e-22	0.667858	1	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162774	33162774	+	RNA	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:33162774A>C	ENST00000510327.1	-	0	346																											AGTCTCCTGGAAGAGCAGTTC	0.453000													14	56					0	0	0.435327	0	0
NEDD4	4734	broad.mit.edu	37	15	56140724	56140724	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:56140724T>C	ENST00000508342.1	-	12	3034	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S	NEDD4_ENST00000506154.1_Missense_Mutation_p.N896S|NEDD4_ENST00000435532.3_Missense_Mutation_p.N493S|NEDD4_ENST00000338963.2_Missense_Mutation_p.N840S			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	912	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.N493S(2)|p.N840S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATACTGTGATTTATGTAGAA	0.308000													21	63					0	0	0.706142	0	0
RXRG	6258	broad.mit.edu	37	1	165378913	165378913	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:165378913G>A	ENST00000359842.5	-	7	1230	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	310	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGGCAATCAGCAATTCATTC	0.502000													7	72					0	0	0.335167	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408635	80408635	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:80408635T>C	ENST00000265080.4	+	14	2112	c.2045T>C	c.(2044-2046)cTc>cCc	p.L682P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	682	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L682P(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGGGAAACTCTCCGACATA	0.493000													109	358					0	0	0.870114	0	0
ACRBP	84519	broad.mit.edu	37	12	6756063	6756063	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:6756063G>T	ENST00000229243.2	-	2	252	c.159C>A	c.(157-159)acC>acA	p.T53T	ACRBP_ENST00000414226.2_Silent_p.T53T|ACRBP_ENST00000536350.1_Silent_p.T53T	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	53						acrosomal vesicle|extracellular region		p.T53T(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGCCTTCCAGGTTGGAGTCA	0.607000													10	29					2.68362e-12	3.44764e-12	0.411799	1	0
ZC3H6	376940	broad.mit.edu	37	2	113089158	113089158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:113089158C>G	ENST00000409871.1	+	12	3064	c.2663C>G	c.(2662-2664)cCt>cGt	p.P888R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P888R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	888							nucleic acid binding|zinc ion binding	p.P888R(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTCCAGTACCTTTACCTAAA	0.403000													20	69					0	0	0.608945	0	0
EPHA5	2044	broad.mit.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K|EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.Q730K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATCAAACTGTCCCATGATA	0.388000										TSP Lung(17;0.13)			140	582					9.97597e-95	1.98238e-94	0.870114	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118006108	118006108	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:118006108C>A	ENST00000310754.4	-	1	628	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	148	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D148Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTTGGGTCTGACAGGCAG	0.383000													32	184					2.38352e-08	2.82115e-08	0.796494	1	0
PSD	5662	broad.mit.edu	37	10	104173662	104173662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:104173662C>G	ENST00000020673.5	-	5	1943	c.1417G>C	c.(1417-1419)Gct>Cct	p.A473P	PSD_ENST00000406432.1_Missense_Mutation_p.A473P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	473					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.A258P(2)|p.A473P(2)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCATCAGCAGCAGAGCTGGTA	0.662000													8	13					0	0	0.435327	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890471	43890471	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:43890471C>T	ENST00000300283.6	+	8	1349	c.957C>T	c.(955-957)aaC>aaT	p.N319N	CKMT1B_ENST00000441322.1_Silent_p.N319N	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	319	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.N319N(2)		large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCCATCTAACCTGGGCACTG	0.512000													50	179					0	0	0.870114	0	0
LYST	1130	broad.mit.edu	37	1	235973688	235973688	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:235973688T>C	ENST00000389794.3	-	5	604	c.430A>G	c.(430-432)Aga>Gga	p.R144G	LYST_ENST00000389793.2_Missense_Mutation_p.R144G|LYST_ENST00000536965.1_Missense_Mutation_p.R144G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	144					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R144G(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGCTGTCGTCTGCTTTTTCGA	0.398000													26	276					0	0	0.760397	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			105	145					0	0	0.870114	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393555	136393555	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:136393555A>T	ENST00000264160.4	+	10	1164	c.794A>T	c.(793-795)aAa>aTa	p.K265I	R3HDM1_ENST00000329971.3_Missense_Mutation_p.K221I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.K265I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.K209I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.K221I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	265							nucleic acid binding	p.K265I(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCTTTGACAAAGATGATAAC	0.323000													42	141					0	0	0.870114	0	0
COL5A2	1290	broad.mit.edu	37	2	189904126	189904126	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:189904126G>A	ENST00000374866.3	-	51	4071	c.3797C>T	c.(3796-3798)cCa>cTa	p.P1266L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1266L(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGAACCCCTGGGTCCGTTTT	0.517000													24	48					0	0	0.693898	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787877	27787877	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:27787877T>C	ENST00000318304.8	+	4	382	c.99T>C	c.(97-99)ttT>ttC	p.F33F	PPFIBP1_ENST00000542629.1_Silent_p.F33F|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000228425.6_Silent_p.F33F|PPFIBP1_ENST00000535047.1_Silent_p.F33F|PPFIBP1_ENST00000545334.1_Silent_p.F33F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	33					cell adhesion	plasma membrane	protein binding	p.F33F(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATGGGATTTTTGATTGCCAAT	0.418000													6	255					0	0	0.278610	0	0
INTS2	57508	broad.mit.edu	37	17	59962347	59962347	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:59962347G>A	ENST00000444766.3	-	16	2103	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	INTS2_ENST00000251334.6_Silent_p.P668P	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	676					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.P676P(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AATATGATTTGGGCTTTCTTT	0.353000													12	39					0	0	0.457914	0	0
TAF1L	138474	broad.mit.edu	37	9	32633786	32633786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:32633786C>A	ENST00000242310.4	-	1	1881	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	598					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCGAAGACCCTGTTGCTTG	0.478000													137	331					1.65771e-47	2.96744e-47	0.870114	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48143570	48143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:48143570C>A	ENST00000405493.2	-	9	931	c.722G>T	c.(721-723)tGg>tTg	p.W241L	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.W283L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.W241L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.W241L	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	241					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.W241L(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GATAATGTACCACGAAGTGCC	0.592000													27	31					1.39806e-14	1.85324e-14	0.729181	1	0
KCNK18	338567	broad.mit.edu	37	10	118960761	118960761	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:118960761C>T	ENST00000334549.1	+	2	315	c.315C>T	c.(313-315)agC>agT	p.S105S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	105						integral to membrane|plasma membrane		p.S105S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCTTCCTGAGCTCGCTCTTTT	0.557000													55	74					0	0	0.870114	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444598	49444598	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:49444598T>A	ENST00000374201.3	-	9	1224		c.e9-2		FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.?(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTGGAAAACTGGAGGAAAAC	0.552000													11	92					0	0	0.457914	0	0
KCTD3	51133	broad.mit.edu	37	1	215759874	215759874	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:215759874G>C	ENST00000259154.4	+	9	957	c.663G>C	c.(661-663)acG>acC	p.T221T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	221						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.T221T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGTGTTTACGAGCCCATATT	0.443000													95	407					0	0	0.870114	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140712339G>T	ENST00000517417.1	+	1	2088	c.2088G>T	c.(2086-2088)gcG>gcT	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1												p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672000													24	67					3.62531e-18	5.15927e-18	0.796494	1	0
TBX22	50945	broad.mit.edu	37	X	79277847	79277847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:79277847C>A	ENST00000373294.5	+	1	107	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.P27T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	27					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P27T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAAGACCCAATACAGGC	0.607000													10	16					1.76689e-08	2.09359e-08	0.335167	1	0
ITIH1	3697	broad.mit.edu	37	3	52818397	52818397	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:52818397C>T	ENST00000273283.2	+	11	1335	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	ITIH1_ENST00000540715.1_Silent_p.H295H|ITIH1_ENST00000537050.1_Silent_p.H149H|ITIH1_ENST00000542827.1_Silent_p.H437H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	437	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.H437H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTCGGCCACAATGTGGACT	0.577000													26	27					0	0	0.667858	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													6	57					0	0	0.217242	0	0
CXorf61	203413	broad.mit.edu	37	X	115593113	115593113	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:115593113G>T	ENST00000371894.4	-	2	283	c.137C>A	c.(136-138)tCt>tAt	p.S46Y		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	46						integral to membrane|plasma membrane		p.S46Y(2)		breast(1)|large_intestine(3)|lung(8)	12						AATTAACCCAGAAGAAGAGGG	0.398000													163	169					1.31883e-95	2.62554e-95	0.870114	1	0
SMEK1	55671	broad.mit.edu	37	14	91927780	91927780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:91927780C>A	ENST00000554684.1	-	14	2793	c.2297G>T	c.(2296-2298)gGc>gTc	p.G766V	SMEK1_ENST00000428424.2_Missense_Mutation_p.G540V|SMEK1_ENST00000554943.1_Missense_Mutation_p.G779V|SMEK1_ENST00000555462.1_Missense_Mutation_p.G540V|SMEK1_ENST00000337238.4_Missense_Mutation_p.G766V|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	779						microtubule organizing center|nucleus	protein binding	p.G779V(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAGGAGAGCCTGGAGATCC	0.488000													50	351					2.41709e-19	3.48099e-19	0.870114	1	0
OR5K3	403277	broad.mit.edu	37	3	98110266	98110266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:98110266C>A	ENST00000383695.1	+	1	757	c.757C>A	c.(757-759)Ctt>Att	p.L253I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L253I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGATTCCCTTCTCTTCAT	0.353000													163	614					1.14095e-56	2.11583e-56	0.870114	1	0
TCF7L2	6934	broad.mit.edu	37	10	114918424	114918424	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:114918424A>T	ENST00000355995.4	+	13	1825		c.e13-1		TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000545257.1_Splice_Site|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000534894.1_Splice_Site|TCF7L2_ENST00000538897.1_Splice_Site|TCF7L2_ENST00000352065.5_Splice_Site|TCF7L2_ENST00000369397.4_Splice_Site|TCF7L2_ENST00000542695.1_Splice_Site|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369386.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTTTTTTTTCAGAACACAGCG	0.353000			T	VTI1A	colorectal								37	259					0	0	0.859065	0	0
TRAV4	28689	broad.mit.edu	37	14	22205254	22205254	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22205254C>A	ENST00000390426.2	+	0	385																											ACTACTGCCTCGTGGGTGACA	0.557000													12	46					0.0285812	0.0293955	0.500413	1	0
PUM2	23369	broad.mit.edu	37	2	20482749	20482749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:20482749C>T	ENST00000361078.2	-	11	1701	c.1679G>A	c.(1678-1680)gGt>gAt	p.G560D	PUM2_ENST00000319801.5_Missense_Mutation_p.G560D|PUM2_ENST00000536417.1_Missense_Mutation_p.G504D|PUM2_ENST00000338086.5_Missense_Mutation_p.G560D|PUM2_ENST00000403432.1_Missense_Mutation_p.G560D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	560	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.G560D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATAGCAGCACCCAAAGAGTT	0.428000													20	84					0	0	0.624587	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767848	54767848	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:54767848G>C	ENST00000546970.1	-	5	559	c.270C>G	c.(268-270)acC>acG	p.T90T	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000394313.2_Silent_p.T90T|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000551771.1_Silent_p.T90T|ZNF385A_ENST00000338010.5_Silent_p.T110T|ZNF385A_ENST00000551109.1_Silent_p.T90T|ZNF385A_ENST00000352268.6_Silent_p.T110T			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.T90T(4)|p.T110T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCTGCCTCTGGTCTTGGCAG	0.597000													12	22					0	0	0.557998	0	0
PHLDA1	22822	broad.mit.edu	37	12	76424788	76424788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:76424788C>A	ENST00000266671.5	-	1	2924	c.734G>T	c.(733-735)cGc>cTc	p.R245L	PHLDA1_ENST00000602540.1_Missense_Mutation_p.R104L|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	245	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.R245L(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTTGCCCTTGCGCTCCACACA	0.612000													39	39					4.14194e-30	6.70511e-30	0.859065	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75932301	75932301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:75932301T>A	ENST00000262207.4	+	12	1699	c.1231T>A	c.(1231-1233)Tca>Aca	p.S411T	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S225T|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S223T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	411	LCCL 2.					extracellular region		p.S411T(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAGCCTGCTTCACATTGCCC	0.413000													17	261					0	0	0.592651	0	0
TKTL2	84076	broad.mit.edu	37	4	164393898	164393898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:164393898G>T	ENST00000280605.3	-	1	1149	c.989C>A	c.(988-990)gCt>gAt	p.A330D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	330						cytoplasm	metal ion binding|transketolase activity	p.A330D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				gcccagtttagccagagccaa	0.428000													43	195					1.32667e-27	2.09139e-27	0.870114	1	0
HOXA1	3198	broad.mit.edu	37	7	27135327	27135327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:27135327G>T	ENST00000343060.4	-	1	266	c.205C>A	c.(205-207)Cac>Aac	p.H69N	HOXA1_ENST00000355633.5_Missense_Mutation_p.H69N|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	69	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H69N(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggtggtggtggtggtggtgg	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	15					0.0581538	0.0593037	0.335167	1	0
SZT2	23334	broad.mit.edu	37	1	43909130	43909130	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:43909130T>C	ENST00000562955.1	+	60	8436	c.8436T>C	c.(8434-8436)tcT>tcC	p.S2812S	SZT2_ENST00000372442.1_Silent_p.S1970S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2869						peroxisome		p.S1970S(4)|p.S2812S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGAGACCTCTGGACCCCCTG	0.612000													7	24					0	0	0.278610	0	0
PKNOX2	63876	broad.mit.edu	37	11	125299921	125299921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:125299921C>A	ENST00000298282.9	+	12	1347	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	PKNOX2_ENST00000542175.1_Missense_Mutation_p.A295D|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	359						nucleus	sequence-specific DNA binding transcription factor activity	p.A359D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGATCCTGCCCCCAAAGCC	0.607000													25	219					3.73148e-12	4.78814e-12	0.717897	1	0
CTNND2	1501	broad.mit.edu	37	5	11346694	11346694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:11346694C>A	ENST00000304623.8	-	9	1607	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V	CTNND2_ENST00000511377.1_Missense_Mutation_p.G382V|CTNND2_ENST00000458100.2_Missense_Mutation_p.G40V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G136V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.G473V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCTGGCTGCCTGTGCGCTG	0.617000													11	38					6.40141e-05	7.067e-05	0.387290	1	0
RUVBL1	8607	broad.mit.edu	37	3	127842427	127842427	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:127842427C>A	ENST00000322623.5	-	1	240	c.141_splice	c.e1+1	p.E47_splice	RUVBL1_ENST00000417360.1_Splice_Site_p.E47_splice|RUVBL1_ENST00000464873.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	47					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.E47D(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGGCCACACCTCTCGCGCGT	0.706000													12	26					0.000978159	0.00104886	0.387290	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159297	18159297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:18159297G>A	ENST00000396275.2	+	3	909	c.548G>A	c.(547-549)tGg>tAg	p.W183*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W183*(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACAATCGCGTGGCTGGTTTTT	0.512000													20	173					0	0	0.624587	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266036	89266036	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:89266036G>T	ENST00000464162.1	-	0	124																											ATGCAGACAGGGAGGATGGAG	0.468000													73	245					9.27813e-46	1.64995e-45	0.870114	1	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													4	97					0	0	0.217242	0	0
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:220752848G>A	ENST00000366918.4	+	2	801	c.204G>A	c.(202-204)aaG>aaA	p.K68K	MARK1_ENST00000366917.4_Silent_p.K68K|MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000472121.1_3'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.K68K(2)|p.K68N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAATAGGGAAGGGAAATTTTG	0.433000													11	228					0	0	0.479597	0	0
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:51143400G>T	ENST00000414786.2	+	16	2090	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G	SHANK3_ENST00000445220.2_Silent_p.G636G|SHANK3_ENST00000262795.3_Silent_p.G651G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	651								p.G651G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGAACGGGGTGAACGTGG	0.632000													6	26					0.00621372	0.00647686	0.335167	1	0
SLC25A13	10165	broad.mit.edu	37	7	95750587	95750587	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:95750587T>A	ENST00000416240.2	-	18	2137	c.1947A>T	c.(1945-1947)gcA>gcT	p.A649A	SLC25A13_ENST00000542654.1_Silent_p.A540A|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000265631.5_Silent_p.A648A	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	648					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.A648A(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTTCAATCCCTGCAAATGTAG	0.498000													13	386					0	0	0.457914	0	0
LAMC3	10319	broad.mit.edu	37	9	133914297	133914297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:133914297G>T	ENST00000361069.4	+	5	1156	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	341	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity	p.E341D(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGATCGGGAGCTCTTCCGCA	0.617000													8	96					0.000978159	0.00104886	0.387290	1	0
CSMD2	114784	broad.mit.edu	37	1	34006151	34006151	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:34006151C>A	ENST00000373381.4	-	60	9781	c.9605G>T	c.(9604-9606)tGg>tTg	p.W3202L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3178	Sushi 26.					integral to membrane|plasma membrane	protein binding	p.W3058L(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCGGTCCAGGACCCATT	0.577000													13	161					1.49906e-05	1.67369e-05	0.457914	1	0
PHF14	9678	broad.mit.edu	37	7	11068427	11068427	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:11068427A>T	ENST00000403050.3	+	7	1889	c.1437A>T	c.(1435-1437)tcA>tcT	p.S479S	PHF14_ENST00000445996.2_Silent_p.S194S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	479							zinc ion binding	p.S479S(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCTGCTTTCAGAGGCAGCGG	0.433000													15	136					0	0	0.654019	0	0
C10orf82	143379	broad.mit.edu	37	10	118425181	118425181	+	Missense_Mutation	SNP	G	G	T	rs138140121	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:118425181G>T	ENST00000369210.3	-	3	266	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	C10orf82_ENST00000588184.1_Missense_Mutation_p.S71Y	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	71								p.S71Y(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CGTCTCCTCGGAGTTGACAGG	0.567000													18	40					6.44725e-10	7.85419e-10	0.624587	1	0
SLC6A19	340024	broad.mit.edu	37	5	1212589	1212589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:1212589C>T	ENST00000304460.10	+	4	709	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	218					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T218I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCGAGACCACCGGGAAG	0.672000													9	43					0	0	0.335167	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815927	106815927	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:106815927C>G	ENST00000390615.2	-	0	225																											GCCATAGCTACTGAAGGTGAA	0.577000													7	98					0	0	0.278610	0	0
TTBK1	84630	broad.mit.edu	37	6	43225570	43225570	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:43225570G>A	ENST00000259750.4	+	10	965	c.882G>A	c.(880-882)gaG>gaA	p.E294E	TTBK1_ENST00000304139.5_Silent_p.E243E	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	294	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E294E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CAGTGTTTGAGAACAGCATGA	0.602000													4	118					0	0	0.248553	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630332	51630332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51630332G>T	ENST00000440804.3	+	4	861	c.794G>T	c.(793-795)gGc>gTc	p.G265V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G265V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	265	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.G265V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCCCAGAGGGCCAGTCTCTG	0.542000													50	86					1.40369e-38	2.39778e-38	0.870114	1	0
EMILIN2	84034	broad.mit.edu	37	18	2891215	2891215	+	Nonsense_Mutation	SNP	G	G	T	rs150535335	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:2891215G>T	ENST00000254528.3	+	4	1249	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	364					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.G364*(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGCTACCTGGGAGTGATAGA	0.522000													12	39					0.000219431	0.000239802	0.457914	1	0
YARS2	51067	broad.mit.edu	37	12	32908775	32908775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:32908775C>A	ENST00000324868.8	-	1	61	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	12					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	p.G12C(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GACCACCGGCCCCAGGAAAAG	0.612000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	19					1.3612e-06	1.55341e-06	0.479597	1	0
CD244	51744	broad.mit.edu	37	1	160808305	160808305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:160808305G>T	ENST00000368034.4	-	5	947	c.770C>A	c.(769-771)aCc>aAc	p.T257N	CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Missense_Mutation_p.T257N|CD244_ENST00000368033.3_Missense_Mutation_p.T262N|CD244_ENST00000322302.7_Missense_Mutation_p.T165N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	262					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.T257N(2)|p.T262N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTGGGACTGGTCTCTGAGGG	0.488000													54	142					1.41401e-22	2.13141e-22	0.870114	1	0
ULK4	54986	broad.mit.edu	37	3	41860964	41860964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:41860964G>T	ENST00000301831.4	-	19	2261	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	600							ATP binding|protein serine/threonine kinase activity	p.A600D(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAGGGAACAGCCCAGCACTC	0.438000													29	338					3.90053e-15	5.23454e-15	0.760397	1	0
GALNT3	2591	broad.mit.edu	37	2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	545	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383000													16	513					0	0	0.575678	0	0
IGSF10	285313	broad.mit.edu	37	3	151164627	151164627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:151164627C>A	ENST00000282466.3	-	4	3141	c.3142G>T	c.(3142-3144)Gaa>Taa	p.E1048*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1048					cell differentiation|multicellular organismal development|ossification	extracellular region		p.E1048*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCTTTTTTCAGAAGAACCT	0.493000													113	274					2.77834e-61	5.28813e-61	0.870114	1	0
SEC31A	22872	broad.mit.edu	37	4	83740390	83740390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:83740390G>T	ENST00000432794.1	-	28	3702	c.3539C>A	c.(3538-3540)aCc>aAc	p.T1180N	SEC31A_ENST00000395310.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000311785.7_Missense_Mutation_p.T1053N|SEC31A_ENST00000505984.1_Missense_Mutation_p.T1113N|SEC31A_ENST00000355196.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000348405.4_Missense_Mutation_p.T1128N|SEC31A_ENST00000264405.5_Missense_Mutation_p.T916N|SEC31A_ENST00000505472.1_Missense_Mutation_p.T1198N|SEC31A_ENST00000500777.2_Missense_Mutation_p.T1014N|SEC31A_ENST00000443462.2_Missense_Mutation_p.T1147N|SEC31A_ENST00000508502.1_Missense_Mutation_p.T1152N|SEC31A_ENST00000326950.5_Missense_Mutation_p.T1128N|SEC31A_ENST00000448323.1_Missense_Mutation_p.T1167N|SEC31A_ENST00000513858.1_Missense_Mutation_p.T1014N|SEC31A_ENST00000509142.1_Missense_Mutation_p.T1053N			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1167					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.T1167N(2)|p.T1180N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TAAACCACTGGTGATTGTTGG	0.393000													59	304					2.01178e-46	3.58939e-46	0.870114	1	0
TIMM17B	10245	broad.mit.edu	37	X	48751400	48751400	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:48751400C>A	ENST00000396779.3	-	6	597	c.449G>T	c.(448-450)gGg>gTg	p.G150V	TIMM17B_ENST00000376582.3_Missense_Mutation_p.G100V|TIMM17B_ENST00000466995.1_5'UTR	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	100					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.G100V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CAGCACAGCCCCGGTCAATGC	0.642000													4	2					0.014758	0.0152509	0.184627	1	0
LGI3	203190	broad.mit.edu	37	8	22005801	22005801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:22005801C>A	ENST00000306317.2	-	8	1808	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.E483*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	507					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.E507*(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACAGCCAGCTCCTGGAACCGT	0.612000													5	21					3.59834e-05	3.98059e-05	0.217242	1	0
EBF2	64641	broad.mit.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:25744284C>G	ENST00000520164.1	-	10	1533	c.996G>C	c.(994-996)agG>agC	p.R332S	EBF2_ENST00000535548.1_Missense_Mutation_p.R63S|EBF2_ENST00000408929.3_Missense_Mutation_p.R184S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.R332S(5)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAAATGAACCTTCCTGGGG	0.483000													15	71					0	0	0.520397	0	0
ASPM	259266	broad.mit.edu	37	1	197070066	197070066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:197070066T>C	ENST00000367409.4	-	18	8571	c.8315A>G	c.(8314-8316)cAa>cGa	p.Q2772R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2772					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2772R(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGTGCAGATTGGTTAACAAT	0.383000													34	257					0	0	0.819951	0	0
LHX9	56956	broad.mit.edu	37	1	197890482	197890482	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:197890482C>A	ENST00000367390.3	+	4	426	c.399C>A	c.(397-399)gcC>gcA	p.A133A	LHX9_ENST00000561173.1_Silent_p.A148A|LHX9_ENST00000337020.2_Silent_p.A142A|LHX9_ENST00000367391.1_Silent_p.A133A|LHX9_ENST00000367387.4_Silent_p.A142A	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	142	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.A133A(2)|p.A142A(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCATTTCCGCCTCGGAGATGG	0.572000													12	72					2.61681e-11	3.27631e-11	0.457914	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356183	22356183	+	RNA	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22356183G>C	ENST00000390437.2	+	0	147																											TGTGGCTTCAGTTGAGCTGTG	0.363000													23	93					0	0	0.717897	0	0
GPR98	84059	broad.mit.edu	37	5	89986703	89986703	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:89986703G>T	ENST00000405460.2	+	31	6892	c.6796G>T	c.(6796-6798)Ggc>Tgc	p.G2266C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2266					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G2266C(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGACACTCGGCAATGTTAC	0.458000													7	34					0.00198382	0.00210223	0.248553	1	0
NETO1	81832	broad.mit.edu	37	18	70423369	70423369	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:70423369G>T	ENST00000327305.6	-	8	1539	c.882C>A	c.(880-882)ggC>ggA	p.G294G	NETO1_ENST00000299430.2_Silent_p.G293G|NETO1_ENST00000583169.1_Silent_p.G294G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	294	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G294G(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATGTGTTGCCTTCACAAG	0.343000													90	298					8.2166e-39	1.408e-38	0.870114	1	0
NBAS	51594	broad.mit.edu	37	2	15417226	15417226	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:15417226C>A	ENST00000281513.5	-	43	5164		c.e43-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence									p.?(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTGGACAAACTGAAATTAAG	0.358000													10	79					0.000151284	0.000165999	0.435327	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:40702836C>T	ENST00000356699.5	+	4	522	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L165L(4)|p.L165M(2)									TCCTCAGGATCTGGCCTCCAC	0.587000													86	418					0	0	0.870114	0	0
APOB	338	broad.mit.edu	37	2	21245902	21245902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:21245902G>T	ENST00000233242.1	-	18	2744	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	873					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L873M(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGCCACCAGTTCAGCCTGC	0.473000													10	103					9.31168e-06	1.04829e-05	0.435327	1	0
COBL	23242	broad.mit.edu	37	7	51096651	51096651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:51096651C>A	ENST00000395542.2	-	12	2572	c.2388G>T	c.(2386-2388)aaG>aaT	p.K796N	COBL_ENST00000265136.7_Missense_Mutation_p.K714N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	714								p.K714N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCATCTCTGACTTTGGAGGAA	0.522000													42	70					1.51926e-22	2.28204e-22	0.870114	1	0
YTHDF2	51441	broad.mit.edu	37	1	29070324	29070324	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:29070324C>G	ENST00000373812.3	+	4	1904	c.1542C>G	c.(1540-1542)cgC>cgG	p.R514R	YTHDF2_ENST00000542507.1_Silent_p.R514R|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Silent_p.R464R	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	514	YTH.				humoral immune response			p.R514R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GACACATTCGCCTAGAGAACA	0.478000													10	95					0	0	0.387290	0	0
MX2	4600	broad.mit.edu	37	21	42771258	42771258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:42771258C>T	ENST00000330714.3	+	10	1592	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	470					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.Q470*(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACTAATACCCAAAAAGGTAA	0.443000													10	109					0	0	0.435327	0	0
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612000													19	200					0	0	0.575678	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:77745831G>A	ENST00000409088.3	-	3	1578	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	LRRTM4_ENST00000409282.1_Silent_p.T389T|LRRTM4_ENST00000409884.1_Silent_p.T388T|LRRTM4_ENST00000409093.1_Silent_p.T388T|LRRTM4_ENST00000409911.1_Silent_p.T389T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388						integral to membrane		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473000													16	58					0	0	0.575678	0	0
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:31810643C>T	ENST00000446923.2	+	7	2723	c.2332C>T	c.(2332-2334)Cca>Tca	p.P778S	ZEB1_ENST00000542815.3_Missense_Mutation_p.P727S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P795S|ZEB1_ENST00000320985.10_Missense_Mutation_p.P794S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P774S|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	794					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P794S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGTAATCCCACCAAGTGC	0.453000													113	358					0	0	0.870114	0	0
NIPAL3	57185	broad.mit.edu	37	1	24785406	24785406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:24785406G>T	ENST00000003912.3	+	10	1271	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	NIPAL3_ENST00000374399.4_Missense_Mutation_p.D268Y|NIPAL3_ENST00000339255.2_Missense_Mutation_p.D268Y			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	268						integral to membrane		p.D268Y(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						ACAGATGTACGACTCCTCTTT	0.468000													59	233					6.88731e-43	1.205e-42	0.870114	1	0
FLG	2312	broad.mit.edu	37	1	152285480	152285480	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152285480G>C	ENST00000368799.1	-	3	1917	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	628	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q628E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTGACTGTCACTG	0.567000									Ichthyosis				104	230					0	0	0.870114	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130340820	130340820	+	Missense_Mutation	SNP	G	G	A	rs147190472		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:130340820G>A	ENST00000299164.2	+	6	1726	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	576	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G576R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTAGCCTCCGGAAAGAGCTT	0.602000													6	104					0	0	0.217242	0	0
CYP4F3	4051	broad.mit.edu	37	19	15759996	15759996	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:15759996G>T	ENST00000221307.7	+	6	600	c.552G>T	c.(550-552)gaG>gaT	p.E184D	CYP4F3_ENST00000585846.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000586182.1_Missense_Mutation_p.E184D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	184				EGS -> KGY (in Ref. 3; AAC08589).	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.E184D(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCTCAGAGGGTAGTGCCC	0.557000													55	166					4.10029e-35	6.83171e-35	0.870114	1	0
TNC	3371	broad.mit.edu	37	9	117826978	117826978	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:117826978A>C	ENST00000350763.4	-	11	3846	c.3435T>G	c.(3433-3435)taT>taG	p.Y1145*	TNC_ENST00000423613.2_Nonsense_Mutation_p.Y1145*|TNC_ENST00000341037.4_Nonsense_Mutation_p.Y1145*|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1145	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.Y1145*(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCACCCCATAGATGGAGA	0.537000													65	571					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216496873	216496873	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:216496873G>T	ENST00000366943.2	-	8	1879	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	USH2A_ENST00000366942.3_Missense_Mutation_p.T498N|USH2A_ENST00000307340.3_Missense_Mutation_p.T498N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	498	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T498N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTAACAGCAGTCTCAGTTGT	0.368000										HNSCC(13;0.011)			117	318					5.787e-82	1.13745e-81	0.870114	1	0
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:26688465G>C	ENST00000436292.1	-	7	1372	c.1252C>G	c.(1252-1254)Cgc>Ggc	p.R418G	ZNF683_ENST00000403843.1_Missense_Mutation_p.R418G|ZNF683_ENST00000374204.1_Missense_Mutation_p.R398G|ZNF683_ENST00000349618.3_Missense_Mutation_p.R398G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R398G(2)|p.R403G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAGTGCAGGCGCAGGTGGGTC	0.637000													10	33					0	0	0.435327	0	0
KDM3A	55818	broad.mit.edu	37	2	86718115	86718115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:86718115C>T	ENST00000409556.1	+	25	4050	c.3685C>T	c.(3685-3687)Caa>Taa	p.Q1229*	KDM3A_ENST00000312912.5_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000542128.1_Nonsense_Mutation_p.Q1177*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.Q1229*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1229	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q1229*(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTATGGAGTTCAAGGCTGGGC	0.423000													58	520					0	0	0.870114	0	0
ELTD1	64123	broad.mit.edu	37	1	79402013	79402013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:79402013A>T	ENST00000370742.3	-	7	907	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	282					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F282I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTCTTTGGAAATATATTTATG	0.279000													29	232					0	0	0.812448	0	0
OR2T1	26696	broad.mit.edu	37	1	248569631	248569631	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248569631C>G	ENST00000366474.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCCTCCTCAGCCACC	0.438000													15	574					0	0	0.520397	0	0
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378000													33	74					0	0	0.834066	0	0
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:126173069G>A	ENST00000339582.2	-	9	3175	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	GRM8_ENST00000444921.2_Silent_p.T789T|GRM8_ENST00000358373.3_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATGCAGGTGGTATACATGG	0.408000										HNSCC(24;0.065)			17	193					0	0	0.592651	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897071	29897071	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:29897071C>T	ENST00000308713.5	-	8	1736		c.e8-1		SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.?(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCATCAGCCTGGGATGGAC	0.557000													3	40					0	0	0.184627	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757446	75757446	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:75757446G>T	ENST00000274364.6	+	2	395	c.98G>T	c.(97-99)cGg>cTg	p.R33L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	33					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.R33L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGAGGAGGCGGCAGAACATT	0.423000													64	247					1.36236e-49	2.45907e-49	0.870114	1	0
USP9X	8239	broad.mit.edu	37	X	41043661	41043661	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:41043661C>T	ENST00000324545.7	+	23	3924	c.3291C>T	c.(3289-3291)gcC>gcT	p.A1097A	USP9X_ENST00000378308.2_Silent_p.A1097A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1097					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.A1090A(2)|p.A1097A(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTATGCCTTGTTAATGC	0.398000													26	55					0	0	0.729181	0	0
HDAC4	9759	broad.mit.edu	37	2	240066294	240066294	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:240066294G>A	ENST00000345617.3	-	8	1641	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.P253S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	284	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P284S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACATCCAACGGACGCTTTTTT	0.577000													12	39					0	0	0.479597	0	0
SOX7	83595	broad.mit.edu	37	8	10690446	10690446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:10690446C>A	ENST00000554914.1	-	3	268	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	PINX1_ENST00000519088.1_Missense_Mutation_p.V60L|PINX1_ENST00000520018.2_5'UTR|SOX7_ENST00000553390.1_Missense_Mutation_p.V60L|PINX1_ENST00000314787.3_Missense_Mutation_p.V60L|PINX1_ENST00000426190.2_Missense_Mutation_p.V58L			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	0					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.V60L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TTATTTTTCACTTGAACTTTA	0.448000													4	34					0.00024832	0.000270282	0.150653	1	0
TMC6	11322	broad.mit.edu	37	17	76113395	76113395	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:76113395C>A	ENST00000590602.1	-	18	2391	c.2232G>T	c.(2230-2232)cgG>cgT	p.R744R	TMC6_ENST00000322933.4_Silent_p.R323R|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000392467.3_Silent_p.R744R|TMC6_ENST00000322914.3_Silent_p.R744R|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Silent_p.R323R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744						endoplasmic reticulum membrane|integral to membrane		p.R744R(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCGCTGGCCCCGCACCACCT	0.682000													9	17					3.03607e-14	4.01473e-14	0.411799	1	0
BRD8	10902	broad.mit.edu	37	5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:137476521C>T	ENST00000254900.5	-	26	3859	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1163	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R1163H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443000													34	890					0	0	0.740014	0	0
NBAS	51594	broad.mit.edu	37	2	15468435	15468435	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:15468435C>A	ENST00000281513.5	-	37	4374	c.4347_splice	c.e37-1	p.G1450_splice	NBAS_ENST00000441750.1_Splice_Site_p.G1330_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450								p.G1450V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACATTTTTGCCCCTaaaaaga	0.388000													101	540					8.60386e-38	1.46509e-37	0.870114	1	0
SERPINB12	89777	broad.mit.edu	37	18	61231212	61231212	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:61231212T>A	ENST00000382768.1	+	5	564	c.562_splice	c.e5-1	p.G188_splice	SERPINB12_ENST00000269491.1_Splice_Site_p.G168_splice			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	168					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTTTTAGGTAAAATCAAGG	0.353000													32	429					0	0	0.834066	0	0
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:160811267C>A	ENST00000368034.4	-	3	565	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CD244_ENST00000368032.2_Nonsense_Mutation_p.E130*|CD244_ENST00000368033.3_Nonsense_Mutation_p.E135*|CD244_ENST00000322302.7_Intron	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	135				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015).	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.E130*(2)|p.E135*(2)|p.E130Q(1)|p.E135Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGGGTTTCTCAACTTTATCT	0.507000													21	111					3.62473e-10	4.43068e-10	0.608945	1	0
ASB15	142685	broad.mit.edu	37	7	123257663	123257663	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:123257663C>A	ENST00000451558.1	+	9	844	c.323C>A	c.(322-324)aCc>aAc	p.T108N	ASB15_ENST00000434204.1_Missense_Mutation_p.T108N|ASB15_ENST00000275699.3_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAATTCAAGACCTGTGATGGA	0.383000													77	224					4.50305e-28	7.16124e-28	0.870114	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51914385	51914385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51914385G>A	ENST00000353836.5	-	10	1998	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q503*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q445*|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q630*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q545*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q535*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q510*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q688*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	688					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Q688*(2)|p.Q630*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAATCCGCCTGGGTGCCCTTG	0.562000													30	24					0	0	0.740014	0	0
GABRR1	2569	broad.mit.edu	37	6	89895078	89895078	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:89895078G>A	ENST00000435811.1	-	6	1150	c.696C>T	c.(694-696)ctC>ctT	p.L232L	GABRR1_ENST00000369451.3_Silent_p.L162L|GABRR1_ENST00000454853.2_Silent_p.L249L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	249					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L243L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATTCCTGAATGAGGAACTGGG	0.488000													13	414					0	0	0.435327	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963931	88963931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:88963931G>T	ENST00000333190.4	+	4	2244	c.1635G>T	c.(1633-1635)tgG>tgT	p.W545C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	545						intracellular	zinc ion binding	p.W545C(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCGGATTGGGAAAAATTCC	0.353000										HNSCC(36;0.09)			40	105					3.50607e-19	5.02923e-19	0.870114	1	0
ATP1A3	478	broad.mit.edu	37	19	42471882	42471882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:42471882C>A	ENST00000545399.1	-	21	3045	c.2892G>T	c.(2890-2892)gaG>gaT	p.E964D	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E921D|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E962D|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E951D	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	951					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E951D(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGCCGTCTCCTCAAACA	0.667000													9	28					1.05317e-09	1.2744e-09	0.457914	1	0
UPRT	139596	broad.mit.edu	37	X	74520800	74520800	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:74520800G>T	ENST00000373379.1	+	6	988	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C	UPRT_ENST00000373383.4_Splice_Site_p.G275_splice|UPRT_ENST00000530743.1_Splice_Site_p.G139_splice			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	275					nucleoside metabolic process	cytoplasm|nucleus		p.G275C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CACTCCTCATGGTGAGTTCAG	0.423000													6	212					2.7689e-08	3.26657e-08	0.248553	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73189085	73189085	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:73189085C>T	ENST00000545377.1	+	28	3806	c.3630C>T	c.(3628-3630)gcC>gcT	p.A1210A	ARHGEF28_ENST00000512883.1_Silent_p.A174A|ARHGEF28_ENST00000296799.4_Silent_p.A897A|ARHGEF28_ENST00000287898.5_Silent_p.A1210A|ARHGEF28_ENST00000296794.6_Silent_p.A1210A|ARHGEF28_ENST00000426542.2_Silent_p.A1210A|ARHGEF28_ENST00000513042.2_Silent_p.A1210A|ARHGEF28_ENST00000437974.1_Silent_p.A1210A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A174A(1)|p.A1210A(1)									AAGCTGAAGCCAGAGTGGCCA	0.473000													7	13					0	0	0.335167	0	0
BORA	79866	broad.mit.edu	37	13	73319235	73319235	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:73319235T>A	ENST00000390667.5	+	8	725	c.628T>A	c.(628-630)Tcg>Acg	p.S210T	BORA_ENST00000377815.3_Missense_Mutation_p.S140T|BORA_ENST00000464754.1_3'UTR	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	210	Ser-rich.		S -> L (in dbSNP:rs9543107).		cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	p.S210T(2)									CTCCTTACCTTCGGCTTCTCC	0.448000													25	207					0	0	0.812448	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500307	48500307	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:48500307C>A	ENST00000396577.3	+	2	606	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	SLC12A1_ENST00000561031.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L131M|SLC12A1_ENST00000330289.6_Missense_Mutation_p.L131M|SLC12A1_ENST00000558405.1_Missense_Mutation_p.L131M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	131					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.L131M(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGACCCAGCCTGCTTGAGAT	0.468000													115	168					1.24568e-56	2.30611e-56	0.870114	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734882	176734882	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:176734882C>G	ENST00000367662.3	+	15	5396	c.4232C>G	c.(4231-4233)tCt>tGt	p.S1411C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1411	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1411C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACTGTACCTCTATAGGCCCA	0.517000													40	808					0	0	0.859065	0	0
MMP9	4318	broad.mit.edu	37	20	44637627	44637627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:44637627C>T	ENST00000372330.3	+	1	81	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	21					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.P21L(2)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGCTGCCCCCAGACAGCGC	0.617000													6	14					0	0	0.217242	0	0
HNF4G	3174	broad.mit.edu	37	8	76472700	76472700	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:76472700C>A	ENST00000396423.2	+	9	1339	c.1216_splice	c.e9+1	p.I405_splice	HNF4G_ENST00000354370.1_Splice_Site_p.I368_splice	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	368					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.I405I(2)|p.I368I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGACCAGATCTGTAAGTTTA	0.363000													20	164					1.00905e-13	1.3214e-13	0.575678	1	0
LCE3D	84648	broad.mit.edu	37	1	152552359	152552359	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152552359T>G	ENST00000368787.3	-	2	110	c.54A>C	c.(52-54)tcA>tcC	p.S18S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	18					keratinization			p.S18S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GACACTTGGGTGAGGGACACT	0.597000													55	191					0	0	0.870114	0	0
BCAS1	8537	broad.mit.edu	37	20	52591957	52591957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:52591957C>G	ENST00000395961.3	-	8	1319	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Missense_Mutation_p.D385H|BCAS1_ENST00000371440.3_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	385						cytoplasm	protein binding	p.D385H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGACTGAGTCCTCTTTAACT	0.403000													14	118					0	0	0.539581	0	0
GARNL3	84253	broad.mit.edu	37	9	130073925	130073925	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:130073925C>G	ENST00000373387.4	+	3	582	c.230C>G	c.(229-231)gCc>gGc	p.A77G	GARNL3_ENST00000435213.2_Missense_Mutation_p.A55G|GARNL3_ENST00000314904.5_Missense_Mutation_p.A77G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	77					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.A59G(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATGCAACTGCCCTGCCTGGT	0.413000													32	351					0	0	0.827153	0	0
OR2T34	127068	broad.mit.edu	37	1	248737445	248737445	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248737445T>A	ENST00000328782.2	-	1	635	c.614A>T	c.(613-615)tAc>tTc	p.Y205F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y205F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGCACAGGTACGTGAGCAT	0.527000													213	877					0	0	0.870114	0	0
NPY1R	4886	broad.mit.edu	37	4	164247270	164247270	+	Missense_Mutation	SNP	C	C	T	rs148479836		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:164247270C>T	ENST00000296533.2	-	2	968	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	146					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R146Q(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCACCCTCGAGGGTTGAT	0.423000													7	276					0	0	0.248553	0	0
CSMD3	114788	broad.mit.edu	37	8	113668510	113668510	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113668510T>A	ENST00000297405.5	-	18	3121	c.2877A>T	c.(2875-2877)tcA>tcT	p.S959S	CSMD3_ENST00000352409.3_Silent_p.S959S|CSMD3_ENST00000343508.3_Silent_p.S919S|CSMD3_ENST00000455883.2_Silent_p.S855S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	959	CUB 5.					integral to membrane|plasma membrane		p.S919S(2)|p.S959S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGCAAGGGTGACAGAAGAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	149					0	0	0.639603	0	0
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:28476668C>A	ENST00000373857.3	-	2	1499	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PTAFR_ENST00000305392.3_Missense_Mutation_p.D289Y|PTAFR_ENST00000539896.1_Missense_Mutation_p.D289Y	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.D289Y(2)|p.D289H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACAGGGTCTAAGACACAG	0.537000													15	110					1.99824e-07	2.3195e-07	0.520397	1	0
RDH16	8608	broad.mit.edu	37	12	57345827	57345827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:57345827C>A	ENST00000398138.3	-	4	1796	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	314					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.A314S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAGCCTTGGCCGGGCTTGGA	0.537000													34	46					8.16277e-20	1.18186e-19	0.827153	1	0
THEM4	117145	broad.mit.edu	37	1	151849531	151849531	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:151849531C>T	ENST00000368814.3	-	5	977	c.628G>A	c.(628-630)Gtt>Att	p.V210I		NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	210					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTACAGGAAACAAAAAATTTC	0.368000													6	271					0	0	0.248553	0	0
ABCA4	24	broad.mit.edu	37	1	94574149	94574149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:94574149G>T	ENST00000370225.3	-	4	512	c.426C>A	c.(424-426)caC>caA	p.H142Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.H142Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	142					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H142Q(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTCCGGGTGAGTCCGGA	0.498000													52	138					9.77497e-20	1.41339e-19	0.870114	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432940	73432940	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:73432940C>G	ENST00000263666.4	-	10	2891	c.2777G>C	c.(2776-2778)cGc>cCc	p.R926P	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R583P|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R648P|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R583P|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R643P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	926							ubiquitin-protein ligase activity|zinc ion binding	p.R926P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGTCGCTGCGGATCTTCAC	0.667000													6	25					0	0	0.217242	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117174	109117174	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:109117174G>C	ENST00000261483.4	+	9	2504	c.1452G>C	c.(1450-1452)tcG>tcC	p.S484S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	484					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S484S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGGGCCAATCGATGTTCCCTG	0.378000													16	94					0	0	0.639603	0	0
PARP8	79668	broad.mit.edu	37	5	50091127	50091127	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:50091127G>A	ENST00000281631.5	+	12	1462	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	PARP8_ENST00000514342.2_Missense_Mutation_p.S188N|PARP8_ENST00000505697.2_Missense_Mutation_p.S435N|PARP8_ENST00000514067.2_Missense_Mutation_p.S435N|PARP8_ENST00000503750.2_Missense_Mutation_p.S435N|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.S414N	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	435						intracellular	NAD+ ADP-ribosyltransferase activity	p.S435N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTACTCCAGTGCCCCCAAG	0.443000													30	160					0	0	0.729181	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478264	14478264	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:14478264G>T	ENST00000581457.1	-	0	1644					NR_024076.1																						AGGTGGGAGAGTTGGACTCTG	0.488000													10	35					5.50884e-06	6.22763e-06	0.411799	1	0
MYB	4602	broad.mit.edu	37	6	135539023	135539023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:135539023C>A	ENST00000341911.5	+	16	2390	c.2191C>A	c.(2191-2193)Cct>Act	p.P731T	MYB_ENST00000442647.2_Missense_Mutation_p.P607T|MYB_ENST00000528774.1_Missense_Mutation_p.P728T|MYB_ENST00000534044.1_Missense_Mutation_p.P573T|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Missense_Mutation_p.P525T|MYB_ENST00000534121.1_Missense_Mutation_p.P715T|MYB_ENST00000367814.4_Missense_Mutation_p.P610T|MYB_ENST00000533624.1_Missense_Mutation_p.P575T|MYB_ENST00000316528.8_Missense_Mutation_p.P696T	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	610					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.P731T(2)|p.P610T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCTGGGAACCTGCATCCTG	0.517000			T	NFIB	adenoid cystic carcinoma								102	266					2.11273e-47	3.77572e-47	0.870114	1	0
SEZ6L	23544	broad.mit.edu	37	22	26761403	26761403	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:26761403C>A	ENST00000529632.2	+	13	2861	c.2665C>A	c.(2665-2667)Cga>Aga	p.R889R	SEZ6L_ENST00000248933.6_Silent_p.R889R|SEZ6L_ENST00000411842.2_Silent_p.R86R|SEZ6L_ENST00000404234.3_Silent_p.R889R|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000402979.1_Silent_p.R662R|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Silent_p.R825R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	889	Sushi 5.					endoplasmic reticulum membrane|integral to membrane		p.R889R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTGTACAAGCGACTCTACCT	0.547000													65	112					4.81439e-37	8.15961e-37	0.870114	1	0
ALPK2	115701	broad.mit.edu	37	18	56247124	56247124	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:56247124G>C	ENST00000361673.3	-	4	1097	c.884C>G	c.(883-885)cCc>cGc	p.P295R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	295							ATP binding|protein serine/threonine kinase activity	p.P295R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTGGGCTGGGTTGTTTGTT	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	111					0	0	0.248553	0	0
ZNF236	7776	broad.mit.edu	37	18	74617253	74617253	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:74617253G>T	ENST00000253159.8	+	13	2371	c.2173G>T	c.(2173-2175)Ggt>Tgt	p.G725C	ZNF236_ENST00000320610.9_Missense_Mutation_p.G727C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	725					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G725C(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTTCACTACTGGTGGCAGCTT	0.438000													4	63					3.59834e-05	3.98059e-05	0.217242	1	0
LAMC1	3915	broad.mit.edu	37	1	183090909	183090909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:183090909G>T	ENST00000258341.4	+	12	2299	c.2042G>T	c.(2041-2043)gGa>gTa	p.G681V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	681	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.G681V(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGGCCTGGAGTCCCTGCA	0.493000													60	173					5.44642e-36	9.14492e-36	0.870114	1	0
UGT2A1	10941	broad.mit.edu	37	4	70513291	70513291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:70513291C>A	ENST00000503640.1	-	1	127	c.72G>T	c.(70-72)ttG>ttT	p.L24F	UGT2A1_ENST00000512704.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000286604.4_Missense_Mutation_p.L24F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L24F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	24					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.L24F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCAAATCAAAACATTCC	0.398000													25	132					0.000147802	0.000162507	0.706142	1	0
APOBR	55911	broad.mit.edu	37	16	28509228	28509228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:28509228G>T	ENST00000564831.1	+	2	2899	c.2866G>T	c.(2866-2868)Gca>Tca	p.A956S	APOBR_ENST00000328423.5_Missense_Mutation_p.A947S|APOBR_ENST00000431282.1_Missense_Mutation_p.A947S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	947	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.A947S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCAGGCCCCTGCAGAAGCTGC	0.667000													24	82					7.26314e-15	9.67525e-15	0.717897	1	0
SCRN1	9805	broad.mit.edu	37	7	29980415	29980415	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:29980415C>G	ENST00000426154.1	-	5	798	c.622G>C	c.(622-624)Gct>Cct	p.A208P	SCRN1_ENST00000409497.1_Missense_Mutation_p.A208P|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.A208P	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	208					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A228P(2)|p.A208P(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGGCTCTGAGCGTAACTCCTG	0.527000													31	154					0	0	0.847076	0	0
HEMGN	55363	broad.mit.edu	37	9	100693342	100693342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:100693342C>A	ENST00000259456.3	-	4	478	c.335G>T	c.(334-336)gGg>gTg	p.G112V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	112					cell differentiation|multicellular organismal development			p.G112V(2)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTTATGCTCCCAGGTGGCTC	0.423000													7	64					0.000157383	0.000172168	0.278610	1	0
HOXA2	3199	broad.mit.edu	37	7	27140626	27140626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:27140626G>T	ENST00000222718.5	-	2	1160	c.850C>A	c.(850-852)Ctg>Atg	p.L284M		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	284						nucleus	sequence-specific DNA binding transcription factor activity	p.L284M(2)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAATGTTTCAGATTTTTCTCA	0.498000													20	77					2.39556e-15	3.22686e-15	0.639603	1	0
GPR139	124274	broad.mit.edu	37	16	20043655	20043655	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:20043655G>T	ENST00000570682.1	-	2	764	c.464C>A	c.(463-465)aCc>aAc	p.T155N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155						integral to membrane|plasma membrane		p.T155N(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGGAAGCAGGTGATGTAAAC	0.522000													35	316					7.53189e-24	1.1505e-23	0.834066	1	0
LGALS9	3965	broad.mit.edu	37	17	25967657	25967657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:25967657C>T	ENST00000395473.2	+	3	1659	c.191C>T	c.(190-192)cCt>cTt	p.P64L	LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000302228.5_Missense_Mutation_p.P64L|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.P64L|LGALS9_ENST00000310394.5_Missense_Mutation_p.P64L|LGALS9_ENST00000448970.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	64	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.P64L(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CACTTCAACCCTCGGTTTGAA	0.527000													17	55					0	0	0.575678	0	0
C9orf84	158401	broad.mit.edu	37	9	114538232	114538232	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:114538232G>T	ENST00000374287.3	-	5	349	c.89C>A	c.(88-90)aCc>aAc	p.T30N	C9orf84_ENST00000374283.5_Missense_Mutation_p.T94N|C9orf84_ENST00000318737.4_Missense_Mutation_p.T30N			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	30								p.T30N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAATCTGGGTCACCATTCT	0.318000													25	102					7.26314e-15	9.67525e-15	0.717897	1	0
VPS13C	54832	broad.mit.edu	37	15	62264919	62264919	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:62264919T>C	ENST00000261517.5	-	27	2735	c.2662A>G	c.(2662-2664)Act>Gct	p.T888A	VPS13C_ENST00000249837.3_Missense_Mutation_p.T845A|VPS13C_ENST00000395896.4_Missense_Mutation_p.T888A|VPS13C_ENST00000395898.3_Missense_Mutation_p.T845A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	888					protein localization			p.T888A(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTTACAAGTCTGTGGTTCT	0.348000													48	164					0	0	0.870114	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316550	38316550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:38316550G>T	ENST00000450935.2	+	3	508	c.430G>T	c.(430-432)Gca>Tca	p.A144S	SLC22A13_ENST00000311856.4_Silent_p.G236G			Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	314						integral to plasma membrane	organic cation transmembrane transporter activity	p.G236G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCCCTCGGGCAGATGGTGC	0.607000													46	126					9.57592e-29	1.53186e-28	0.870114	1	0
TMEM161B	153396	broad.mit.edu	37	5	87494880	87494880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:87494880C>A	ENST00000296595.6	-	10	1126	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMEM161B_ENST00000514135.1_Silent_p.L334L|TMEM161B_ENST00000512429.1_Silent_p.L323L|TMEM161B_ENST00000511218.1_Silent_p.L125L|TMEM161B_ENST00000506536.1_Silent_p.L152L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	334						integral to membrane		p.L334L(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATAAGCTTGCAGGTGACTAC	0.423000													13	34					4.7546e-09	5.70869e-09	0.500413	1	0
MYH1	4619	broad.mit.edu	37	17	10399714	10399714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:10399714G>T	ENST00000226207.5	-	34	4903	c.4809C>A	c.(4807-4809)agC>agA	p.S1603R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1603						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1603R(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCCAGTGTGCTCTGCATGG	0.448000													199	477					1.23147e-137	2.47896e-137	0.870114	1	0
DSCAML1	57453	broad.mit.edu	37	11	117387251	117387251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:117387251C>A	ENST00000321322.6	-	8	1895	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E362*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	572	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E632*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACAGGTACTCCCCCTCATCC	0.612000													12	19					4.3838e-07	5.07228e-07	0.435327	1	0
TSPAN12	23554	broad.mit.edu	37	7	120428789	120428789	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:120428789G>C	ENST00000222747.3	-	8	1382	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	TSPAN12_ENST00000415871.1_Missense_Mutation_p.Q259E	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	259					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GACATCATTTGGTCTGTCCCC	0.468000													11	639					0	0	0.411799	0	0
RBBP6	5930	broad.mit.edu	37	16	24578506	24578506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:24578506G>C	ENST00000319715.4	+	15	2064	c.1632G>C	c.(1630-1632)agG>agC	p.R544S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.R544S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R544S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATCACAGAGGACTCAAGGCC	0.478000													41	144					0	0	0.870114	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617601	54617601	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:54617601A>T	ENST00000302287.3	+	4	778	c.372A>T	c.(370-372)ttA>ttT	p.L124F	VSTM2A_ENST00000407838.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000404951.1_Missense_Mutation_p.L124F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.L123F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	124	Ig-like V-type.					extracellular region		p.L124F(2)|p.L123F(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGAAGGCTTATATGAGTGCA	0.468000													8	24					0	0	0.361761	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766770	77766770	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:77766770T>C	ENST00000521891.2	+	10	8061	c.7613T>C	c.(7612-7614)aTg>aCg	p.M2538T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M2522T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCCCTACATGATATTTGAC	0.547000										HNSCC(33;0.089)			92	460					0	0	0.870114	0	0
LONRF3	79836	broad.mit.edu	37	X	118147138	118147138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:118147138G>T	ENST00000365713.2	+	8	1988	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	LONRF3_ENST00000371628.3_Missense_Mutation_p.D650Y|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.D609Y|LONRF3_ENST00000422289.2_Missense_Mutation_p.D394Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	650	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D609Y(2)|p.D650Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAACACAGCCGACATTGAATA	0.488000													25	46					1.55811e-20	2.2865e-20	0.729181	1	0
ZMYND11	10771	broad.mit.edu	37	10	294355	294355	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:294355T>C	ENST00000397962.3	+	13	1735	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	ZMYND11_ENST00000402736.1_Missense_Mutation_p.V405A|ZMYND11_ENST00000381607.4_Missense_Mutation_p.V342A|ZMYND11_ENST00000509513.2_Missense_Mutation_p.V435A|ZMYND11_ENST00000381602.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000403354.1_Missense_Mutation_p.V356A|ZMYND11_ENST00000535374.1_Missense_Mutation_p.V231A|ZMYND11_ENST00000309776.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000381604.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000381591.1_Missense_Mutation_p.V436A|ZMYND11_ENST00000602682.1_Missense_Mutation_p.V351A|ZMYND11_ENST00000381584.1_Missense_Mutation_p.V419A|ZMYND11_ENST00000558098.2_Missense_Mutation_p.V436A|ZMYND11_ENST00000545619.1_Missense_Mutation_p.V316A|ZMYND11_ENST00000397959.3_Missense_Mutation_p.V351A|ZMYND11_ENST00000473115.1_3'UTR			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	396	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V436A(4)|p.V396A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAGTCTCCGTGTCAACTCAG	0.498000													29	93					0	0	0.750413	0	0
KATNAL1	84056	broad.mit.edu	37	13	30801606	30801606	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:30801606T>C	ENST00000380615.3	-	9	1257	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I364V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	364						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.I364V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTCATCAATGTCCCACGGG	0.378000													72	394					0	0	0.870114	0	0
ISOC1	51015	broad.mit.edu	37	5	128440942	128440942	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:128440942G>A	ENST00000173527.5	+	3	510	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	165						peroxisome	catalytic activity	p.G165E(2)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		AAAGGTCTTGGGAGCACGGTT	0.383000													9	34					0	0	0.387290	0	0
ABCA13	154664	broad.mit.edu	37	7	48452087	48452087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:48452087G>T	ENST00000435803.1	+	41	12390	c.12366G>T	c.(12364-12366)aaG>aaT	p.K4122N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4122					transport	integral to membrane	ATP binding|ATPase activity	p.K4067N(2)|p.K4122N(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGACAAGGCCTGCTTGA	0.493000													63	324					1.07941e-43	1.90082e-43	0.870114	1	0
DNER	92737	broad.mit.edu	37	2	230341871	230341871	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:230341871A>G	ENST00000341772.4	-	7	1380	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	416	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C416R(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGACACTGGCAGGTGAATCCA	0.378000													17	66					0	0	0.834066	0	0
OR2G2	81470	broad.mit.edu	37	1	247752128	247752128	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247752128T>C	ENST00000320065.1	+	1	467	c.467T>C	c.(466-468)aTa>aCa	p.I156T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I156T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCAGTGGAATAGCCACCACC	0.547000													252	761					0	0	0.870114	0	0
FER1L6	654463	broad.mit.edu	37	8	125110055	125110055	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:125110055C>A	ENST00000522917.1	+	37	5020	c.4814C>A	c.(4813-4815)aCt>aAt	p.T1605N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T1605N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1605	C2 6.					integral to membrane		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCTGGAACACTGAAGATGTC	0.418000													145	237					2.89414e-53	5.29451e-53	0.870114	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:47846506C>G	ENST00000339488.4	-	3	2107	c.2074G>C	c.(2074-2076)Gtc>Ctc	p.V692L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	692						integral to membrane	hedgehog receptor activity	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453000													26	95					0	0	0.693898	0	0
CUL7	9820	broad.mit.edu	37	6	43020259	43020259	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:43020259C>A	ENST00000535468.1	-	2	510	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	CUL7_ENST00000265348.3_Missense_Mutation_p.G90W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	90					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGGAGGGCCCGATGACCTGG	0.587000													3	87					0.004672	0.00488395	0.115264	1	0
SLC22A6	9356	broad.mit.edu	37	11	62749428	62749428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:62749428T>A	ENST00000377871.3	-	4	949	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.Y228F|SLC22A6_ENST00000458333.2_Missense_Mutation_p.Y228F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.Y228F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	228					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Y228F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGTAGACATAGCCAATCAA	0.592000													17	68					0	0	0.557998	0	0
MYOM3	127294	broad.mit.edu	37	1	24421441	24421441	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:24421441A>T	ENST00000330966.7	-	9	995	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	MYOM3_ENST00000329601.7_Missense_Mutation_p.L277Q|MYOM3_ENST00000374434.3_Missense_Mutation_p.L277Q|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	277	Ig-like C2-type 2.							p.L277Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTGGCTTCAGCACCGAGGT	0.537000													32	45					0	0	0.853193	0	0
CHI3L2	1117	broad.mit.edu	37	1	111770280	111770280	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:111770280G>T	ENST00000445067.2	+	3	700		c.e3-1		CHI3L2_ENST00000369748.4_Intron|CHI3L2_ENST00000369744.2_5'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2						chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CTTTCGTGTAGGACAGGCTGT	0.493000													15	28					1.52009e-12	1.95983e-12	0.479597	1	0
LSAMP	4045	broad.mit.edu	37	3	115805319	115805319	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:115805319C>A	ENST00000490035.1	-	2	739	c.240G>T	c.(238-240)ctG>ctT	p.L80L	LSAMP_ENST00000539563.1_Silent_p.L77L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.L80L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCCGTGGGTCCAGAGACCACT	0.502000													41	186					6.87076e-12	8.74387e-12	0.870114	1	0
PDZD9	255762	broad.mit.edu	37	16	21999929	21999929	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:21999929A>C	ENST00000286143.6	-	4	530	c.209T>G	c.(208-210)gTa>gGa	p.V70G	PDZD9_ENST00000537222.2_Missense_Mutation_p.V72G|PDZD9_ENST00000424898.2_Missense_Mutation_p.V132G			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	132	PDZ.							p.V70G(2)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TTACCTTGTTACTGGGAATTT	0.343000													29	82					0	0	0.740014	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481082	27481082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:27481082C>T	ENST00000233535.4	-	3	723	c.371G>A	c.(370-372)tGg>tAg	p.W124*	SLC30A3_ENST00000447008.2_Nonsense_Mutation_p.W119*	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	124					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.W124*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGAGCCAGAGGGAGAA	0.637000													7	22					0	0	0.307466	0	0
KCTD7	154881	broad.mit.edu	37	7	66264318	66264318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:66264318G>T	ENST00000380828.2	+	9	1011	c.857G>T	c.(856-858)cGc>cTc	p.R286L	RABGEF1_ENST00000437078.2_Missense_Mutation_p.R260L|KCTD7_ENST00000451741.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R246L|KCTD7_ENST00000510829.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R259L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R246L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R246L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGAGCCCTGCGCTGGGTTACG	0.493000													42	108					6.31075e-24	9.65331e-24	0.870114	1	0
RTTN	25914	broad.mit.edu	37	18	67718658	67718658	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:67718658G>A	ENST00000255674.6	-	39	5598	c.5312C>T	c.(5311-5313)aCa>aTa	p.T1771I	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1771							binding	p.T1771I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AATCGCCGCTGTCCAGTGCTT	0.453000													13	429					0	0	0.575678	0	0
SKAP2	8935	broad.mit.edu	37	7	26779578	26779578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:26779578G>A	ENST00000345317.2	-	5	626	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	105					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.Q105*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGAGGAAACTGGGCTCCTATG	0.388000													14	90					0	0	0.500413	0	0
IL27RA	9466	broad.mit.edu	37	19	14153294	14153294	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:14153294G>T	ENST00000263379.2	+	5	689	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	188	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.L188L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCATACCCCTGACCCCTGTTG	0.547000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	71					4.26978e-12	5.4402e-12	0.654019	1	0
PDILT	204474	broad.mit.edu	37	16	20380897	20380897	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:20380897C>A	ENST00000302451.4	-	8	1281	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	345					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.A345S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGTACCTGGCGTCAGAGCTC	0.468000													48	330					4.88482e-21	7.18786e-21	0.870114	1	0
NEGR1	257194	broad.mit.edu	37	1	72400910	72400910	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:72400910C>A	ENST00000357731.4	-	2	500	c.261G>T	c.(259-261)gtG>gtT	p.V87V	NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Silent_p.V85V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	87	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane		p.V87V(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTCGAGGATCCACTGACCACT	0.433000													24	85					3.6726e-16	5.03472e-16	0.667858	1	0
ATP2A1	487	broad.mit.edu	37	16	28898990	28898990	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:28898990C>T	ENST00000395503.4	+	8	1059	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ATP2A1_ENST00000357084.3_Missense_Mutation_p.A292V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A167V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	292					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.A292V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TTCCGCGGGGCCATCTACTAC	0.547000													3	48					0	0	0.115264	0	0
KCNH1	3756	broad.mit.edu	37	1	211256166	211256166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:211256166C>A	ENST00000367007.4	-	5	683	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	KCNH1_ENST00000271751.4_Missense_Mutation_p.V172L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	172					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.V172L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTTTTTGCACGCTTGGAGCC	0.562000													130	300					6.47883e-55	1.19329e-54	0.870114	1	0
SNHG14	104472715	broad.mit.edu	37	15	25448271	25448271	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:25448271T>C	ENST00000424208.1	+	0	2117				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCTGGTGTGCTGAAGCTCAGG	0.647000													2	7					0	0	0.115264	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999351	27999351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:27999351G>T	ENST00000441525.1	-	1	215	c.101C>A	c.(100-102)gCg>gAg	p.A34E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	34								p.A34E(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGAGGAGGCCGCCGTCACCGC	0.562000													11	17					6.72482e-11	8.37125e-11	0.479597	1	0
SPTBN1	6711	broad.mit.edu	37	2	54893182	54893182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:54893182G>T	ENST00000356805.4	+	34	7071	c.6790G>T	c.(6790-6792)Gtg>Ttg	p.V2264L		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2264	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.V2264L(2)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCTGCGAAGTGGCCCTTGA	0.468000													29	349					3.67414e-24	5.65212e-24	0.760397	1	0
COL27A1	85301	broad.mit.edu	37	9	117027389	117027389	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:117027389C>T	ENST00000356083.3	+	31	3729	c.3339_splice	c.e31+1	p.P1113_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1113	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1113L(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGCTTTCCTGTAAGTAGC	0.547000													26	46					0	0	0.667858	0	0
MICAL3	57553	broad.mit.edu	37	22	18301457	18301457	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:18301457C>A	ENST00000441493.2	-	26	4322	c.3970G>T	c.(3970-3972)Gtg>Ttg	p.V1324L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1324	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.V1324L(2)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AACTCCTCCACCAGGTCGCTC	0.662000													3	9					0.00024832	0.000270282	0.150653	1	0
CD5L	922	broad.mit.edu	37	1	157803126	157803126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:157803126T>A	ENST00000368174.4	-	5	991	c.895A>T	c.(895-897)Aaa>Taa	p.K299*		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	299	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.K299*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATAGCATTTCCGGTCTCTG	0.577000													66	183					0	0	0.870114	0	0
TRAV22	28661	broad.mit.edu	37	14	22539228	22539228	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22539228G>T	ENST00000390450.3	+	0	221																											GAGTCCTCCAGACCTGATTCT	0.463000													59	159					9.65139e-37	1.62811e-36	0.870114	1	0
PLCE1	51196	broad.mit.edu	37	10	96005858	96005858	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:96005858A>G	ENST00000260766.3	+	8	3210	c.2576A>G	c.(2575-2577)cAg>cGg	p.Q859R	PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551R|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551R|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATGTGCACCAGTTCCTGCTG	0.587000													79	89					0	0	0.870114	0	0
FAM120A	23196	broad.mit.edu	37	9	96318676	96318676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:96318676G>T	ENST00000277165.6	+	13	2481	c.2287G>T	c.(2287-2289)Gat>Tat	p.D763Y	FAM120A_ENST00000333936.5_Missense_Mutation_p.D791Y|FAM120A_ENST00000340893.4_Missense_Mutation_p.D763Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	763						cytoplasm|plasma membrane	RNA binding	p.D763Y(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGAACCTAGATCCCCGAGG	0.388000													6	94					0.00116845	0.00124305	0.217242	1	0
TTN	7273	broad.mit.edu	37	2	179592523	179592523	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179592523C>T	ENST00000589042.1	-	68	20006	c.19782G>A	c.(19780-19782)aaG>aaA	p.K6594K	TTN_ENST00000342992.6_Silent_p.K5350K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.K6277K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6277	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K5350K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTATTGCCTTAAATTCCA	0.373000													64	152					0	0	0.870114	0	0
KIAA1109	84162	broad.mit.edu	37	4	123260563	123260563	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:123260563G>T	ENST00000264501.4	+	72	12725	c.12352_splice	c.e72+1	p.G4118_splice	KIAA1109_ENST00000388738.3_Splice_Site_p.G4118_splice			Q2LD37	K1109_HUMAN	KIAA1109	4118	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G4118C(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATACCAGGTATAGATAA	0.313000													15	45					4.14922e-12	5.30532e-12	0.500413	1	0
GABRE	2564	broad.mit.edu	37	X	151131077	151131077	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:151131077G>A	ENST00000393914.3	-	0	604				GABRE_ENST00000370328.3_Silent_p.Y127Y|GABRE_ENST00000370325.1_Silent_p.Y127Y			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y14Y(2)|p.Y127Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGTTCGTCGTACCAGGTCT	0.463000													11	209					0	0	0.457914	0	0
RNF17	56163	broad.mit.edu	37	13	25356050	25356050	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:25356050G>A	ENST00000255324.5	+	6	631	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RNF17_ENST00000255325.5_Silent_p.Q193Q|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.Q193Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	193					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q193Q(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGAGAAACAGTTTGACCAAC	0.328000													36	200					0	0	0.870114	0	0
OR2K2	26248	broad.mit.edu	37	9	114090593	114090593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:114090593C>T	ENST00000374428.1	-	1	207	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	OR2K2_ENST00000302681.1_Missense_Mutation_p.G41S			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41S(1)|p.G70S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTGCTGTTGCCCAAGAGCGTT	0.413000													18	473					0	0	0.624587	0	0
CDC73	79577	broad.mit.edu	37	1	193111176	193111176	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:193111176A>G	ENST00000367435.3	+	7	893	c.709A>G	c.(709-711)Atc>Gtc	p.I237V		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	237					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.I237V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACGAACAACTATCTTACAAAG	0.403000													14	200					0	0	0.592651	0	0
INTU	27152	broad.mit.edu	37	4	128632153	128632153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:128632153G>T	ENST00000335251.5	+	14	2558	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	819								p.E819*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TACCCTTGAAGAGGTGGCACA	0.418000													47	172					2.74695e-27	4.31152e-27	0.870114	1	0
OR1N2	138882	broad.mit.edu	37	9	125315646	125315646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:125315646C>G	ENST00000373688.2	+	1	256	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I66M(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGGCCATCAGCTCTGACC	0.527000													102	711					0	0	0.870114	0	0
NUGGC	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:27927077C>T	ENST00000413272.2	-	4	383	c.241G>A	c.(241-243)Gga>Aga	p.G81R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G81R(4)									TACTTGACTCCATTAGGGATG	0.413000													20	145					0	0	0.654019	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914953	94914953	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94914953G>T	ENST00000334708.3	-	2	223	c.159C>A	c.(157-159)acC>acA	p.T53T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	53					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T235T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATTGGTAATGGTGGGTGTGA	0.572000													135	509					1.12709e-80	2.2113e-80	0.870114	1	0
SPRR2E	6704	broad.mit.edu	37	1	153066043	153066043	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:153066043G>T	ENST00000368751.1	-	2	259	c.185C>A	c.(184-186)cCc>cAc	p.P62H	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P62H			P22531	SPR2E_HUMAN	small proline-rich protein 2E	62					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	p.P62H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGGCAGGGTGGGGAAGG	0.552000													332	1273					1.01623e-67	1.96884e-67	0.870114	1	0
EXOC5	10640	broad.mit.edu	37	14	57684713	57684713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:57684713T>G	ENST00000413566.2	-	15	1959	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	EXOC5_ENST00000340918.7_Missense_Mutation_p.T469P	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	534					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		p.T536P(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCAATGCCAGTATCCAATTTC	0.289000													17	164					0	0	0.624587	0	0
OR4L1	122742	broad.mit.edu	37	14	20528425	20528425	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:20528425C>T	ENST00000315683.1	+	1	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGTCTCTCCACTGCCACAA	0.453000													49	392					0	0	0.870114	0	0
STAG2	10735	broad.mit.edu	37	X	123156495	123156495	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:123156495A>T	ENST00000371160.1	+	3	308	c.18A>T	c.(16-18)gaA>gaT	p.E6D	STAG2_ENST00000371145.3_Missense_Mutation_p.E6D|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.E6D|STAG2_ENST00000218089.9_Missense_Mutation_p.E6D|STAG2_ENST00000371157.3_Missense_Mutation_p.E6D			Q8N3U4	STAG2_HUMAN	stromal antigen 2	6					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.E6D(4)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGCTCCAGAAATACCAACTG	0.308000													17	16					0	0	0.592651	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266601	113266601	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:113266601C>T	ENST00000369630.3	+	4	517	c.300C>T	c.(298-300)gaC>gaT	p.D100D	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region		p.D100D(2)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGTAGAGACCCTAGAGCTG	0.607000													6	41					0	0	0.248553	0	0
SPEF2	79925	broad.mit.edu	37	5	35779450	35779450	+	Splice_Site	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:35779450T>G	ENST00000440995.2	+	30	4432		c.e30+2		SPEF2_ENST00000356031.3_Splice_Site|SPEF2_ENST00000303129.4_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCTAAAGGTAGGAAAAATA	0.388000													10	207					0	0	0.335167	0	0
PDS5B	23047	broad.mit.edu	37	13	33320130	33320130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:33320130A>T	ENST00000315596.10	+	24	2814	c.2628A>T	c.(2626-2628)tcA>tcT	p.S876S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	876					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.S876S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGATATGTCACGTCTGAGAC	0.328000													21	266					0	0	0.729181	0	0
STAP1	26228	broad.mit.edu	37	4	68436840	68436840	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:68436840T>A	ENST00000265404.2	+	2	241	c.159T>A	c.(157-159)acT>acA	p.T53T	STAP1_ENST00000396225.1_Silent_p.T53T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	53	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm		p.T53T(2)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGGAACTACTCTTTTCTTTT	0.308000													142	369					0	0	0.870114	0	0
BRIP1	83990	broad.mit.edu	37	17	59760806	59760806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:59760806T>C	ENST00000259008.2	-	20	3868	c.3601A>G	c.(3601-3603)Att>Gtt	p.I1201V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1201					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.I1201V(4)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCTTCAATATGCAGAATT	0.303000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					50	83					0	0	0.870114	0	0
OR5D14	219436	broad.mit.edu	37	11	55563649	55563649	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:55563649C>T	ENST00000335605.1	+	1	618	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T206T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTTCGCCACCTTCAATGAGA	0.433000													27	323					0	0	0.750413	0	0
TESPA1	9840	broad.mit.edu	37	12	55356793	55356793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:55356793G>A	ENST00000524622.1	-	7	1136	c.475C>T	c.(475-477)Cga>Tga	p.R159*	TESPA1_ENST00000531122.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.R297*|TESPA1_ENST00000532804.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000449076.1_Nonsense_Mutation_p.R297*	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	297								p.R297*(2)|p.R159*(2)									GGCCGGTCTCGGGGGCATGTG	0.542000													97	145					0	0	0.870114	0	0
DNAH9	1770	broad.mit.edu	37	17	11622751	11622751	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:11622751C>T	ENST00000262442.3	+	27	5721	c.5653C>T	c.(5653-5655)Cgc>Tgc	p.R1885C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1885C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1885	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1885C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTGGGCCGCGCACTGGG	0.627000													4	104					0	0	0.184627	0	0
LCE3D	84648	broad.mit.edu	37	1	152552407	152552407	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152552407G>T	ENST00000368787.3	-	2	62	c.6C>A	c.(4-6)tcC>tcA	p.S2S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization			p.S2S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TCTGCTGGCAGGACATCTTGG	0.547000													40	203					6.31075e-24	9.65331e-24	0.870114	1	0
SPRR1B	6699	broad.mit.edu	37	1	153005016	153005016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:153005016C>A	ENST00000307098.4	+	2	260	c.195C>A	c.(193-195)tgC>tgA	p.C65*	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C65*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCATGCCACCCCAAGG	0.617000													99	358					5.93169e-28	9.39184e-28	0.870114	1	0
TRPV5	56302	broad.mit.edu	37	7	142625790	142625790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142625790G>T	ENST00000265310.1	-	6	1106	c.758C>A	c.(757-759)aCt>aAt	p.T253N	TRPV5_ENST00000442623.1_Missense_Mutation_p.T253N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	253					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.T253N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTTACCACAGTGTTACCCTC	0.577000													8	36					0.00185496	0.0019676	0.435327	1	0
RP1	6101	broad.mit.edu	37	8	55538014	55538014	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:55538014T>G	ENST00000220676.1	+	4	1720	c.1572T>G	c.(1570-1572)gaT>gaG	p.D524E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	524					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D524E(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACAATGATCAAATGGAGG	0.348000													4	60					0	0	0.184627	0	0
FAM47C	442444	broad.mit.edu	37	X	37027514	37027514	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:37027514C>T	ENST00000358047.3	+	1	1083	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	344								p.P344L(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCACCCAGAGCCTCCC	0.622000													25	33					0	0	0.760397	0	0
FHL1	2273	broad.mit.edu	37	X	135288623	135288623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:135288623G>T	ENST00000543669.1	+	2	743	c.32G>T	c.(31-33)aGg>aTg	p.R11M	FHL1_ENST00000394155.2_Missense_Mutation_p.R11M|FHL1_ENST00000394153.2_Missense_Mutation_p.R11M|FHL1_ENST00000370690.3_Missense_Mutation_p.R11M|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000345434.3_Missense_Mutation_p.R11M|FHL1_ENST00000539015.1_Missense_Mutation_p.R40M|FHL1_ENST00000535737.1_Missense_Mutation_p.R11M|FHL1_ENST00000370676.3_Missense_Mutation_p.R27M|FHL1_ENST00000370683.1_Missense_Mutation_p.R27M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	11					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.R11M(4)|p.R40M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CACTACTGCAGGGATCCCTTG	0.557000													117	179					1.21703e-59	2.29225e-59	0.870114	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616685	77616685	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:77616685A>G	ENST00000521891.2	+	2	810	c.362A>G	c.(361-363)gAc>gGc	p.D121G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D121G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D121G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D121G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D121G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTTAGAGGACAGTGACGTG	0.478000										HNSCC(33;0.089)			13	313					0	0	0.435327	0	0
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552000													66	85					4.09166e-32	6.69376e-32	0.870114	1	0
PPP3R2	5535	broad.mit.edu	37	9	104356802	104356802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:104356802G>T	ENST00000374806.1	-	1	481	c.411C>A	c.(409-411)gaC>gaA	p.D137E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	134	EF-hand 4.						calcium ion binding	p.D137E(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TGATGGTTTTGTCGACCAGCT	0.522000													11	80					9.70103e-10	1.17651e-09	0.361761	1	0
TDRD6	221400	broad.mit.edu	37	6	46657599	46657599	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:46657599G>T	ENST00000544460.1	+	1	1988	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	TDRD6_ENST00000316081.6_Silent_p.V578V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	578	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.V578V(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGAAAATGTGGACTGGTATG	0.433000													69	194					5.88917e-42	1.0254e-41	0.870114	1	0
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:10448802G>A	ENST00000245503.5	-	5	750	c.366C>T	c.(364-366)ttC>ttT	p.F122F	MYH2_ENST00000532183.1_Silent_p.F122F|MYH2_ENST00000397183.2_Silent_p.F122F|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	122	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F122F(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTGACACAGAAGAGACCTG	0.453000													23	65					0	0	0.667858	0	0
DSCAM	1826	broad.mit.edu	37	21	41725556	41725556	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:41725556C>T	ENST00000400454.1	-	5	1247	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	257	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R257H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCAGCCAGCGGTAATCTGG	0.602000													4	67					0	0	0.248553	0	0
YIPF7	285525	broad.mit.edu	37	4	44626769	44626769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:44626769C>A	ENST00000332990.5	-	5	545	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	177						endoplasmic reticulum membrane|integral to membrane		p.G177C(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCACTCATGCCATACACATAA	0.478000													32	98					2.45108e-15	3.29754e-15	0.840704	1	0
AGXT2	64902	broad.mit.edu	37	5	34998886	34998886	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:34998886C>G	ENST00000231420.6	-	14	1683	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	495					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.D495H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACTGCAAAATCAACTTCTGGT	0.358000													12	644					0	0	0.520397	0	0
C7	730	broad.mit.edu	37	5	40964907	40964907	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:40964907T>A	ENST00000313164.9	+	14	2173	c.1814T>A	c.(1813-1815)cTt>cAt	p.L605H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	605	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.L605H(1)					Ovarian(839;0.0112)				GGATACTCTCTTATTGGAAAC	0.393000													41	857					0	0	0.870114	0	0
LZTS2	84445	broad.mit.edu	37	10	102763886	102763886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:102763886G>T	ENST00000370220.1	+	2	4094	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	LZTS2_ENST00000370223.3_Missense_Mutation_p.R344L			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	344					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.R344L(2)|p.R207L(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGCAGCTGCGGGACAGTCTG	0.622000													11	22					6.31663e-08	7.37167e-08	0.479597	1	0
ISLR	3671	broad.mit.edu	37	15	74467708	74467708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:74467708C>T	ENST00000249842.3	+	2	866	c.509C>T	c.(508-510)aCc>aTc	p.T170I	ISLR_ENST00000395118.1_Missense_Mutation_p.T170I|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	170					cell adhesion	extracellular region		p.T170I(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACCCCGCTCACCGCGCTGTCC	0.657000													15	29					0	0	0.575678	0	0
RAG1	5896	broad.mit.edu	37	11	36597537	36597537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:36597537G>T	ENST00000299440.5	+	2	2795	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	895					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V895L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGAAACCAGTATGGCGATC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				47	521					2.84144e-21	4.20968e-21	0.870114	1	0
AFF4	27125	broad.mit.edu	37	5	132270357	132270357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:132270357G>A	ENST00000265343.5	-	3	779	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Nonsense_Mutation_p.Q134*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	134	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.Q134*(2)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTCCGCTGGCTACTATGT	0.532000													41	95					0	0	0.834066	0	0
HYDIN	54768	broad.mit.edu	37	16	70908208	70908208	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:70908208C>A	ENST00000393567.2	-	64	11098	c.10948_splice	c.e64+1	p.A3650_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3650								p.A3601S(2)|p.A3649S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTCCCACCTGCCACCAAG	0.458000													36	242					2.56175e-15	3.44215e-15	0.870114	1	0
WDR36	134430	broad.mit.edu	37	5	110440497	110440497	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:110440497A>T	ENST00000506538.2	+	9	1749	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	WDR36_ENST00000513710.2_Silent_p.G392G|WDR36_ENST00000505303.1_Silent_p.G336G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	392					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.G392G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACAGAATGGACAGCAGATTC	0.398000													47	488					0	0	0.870114	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067033	18067033	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:18067033T>A	ENST00000506618.2	-	1	453	c.373A>T	c.(373-375)Atc>Ttc	p.I125F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	125					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.I125F(4)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCATGGTGATGATATGATCC	0.463000													144	368					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478928	110478928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:110478928C>A	ENST00000378402.5	+	50	8639	c.8535C>A	c.(8533-8535)caC>caA	p.H2845Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2845					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.H2847Q(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGCTTTCACCGTTTAGCGT	0.438000										HNSCC(38;0.096)			50	93					5.66675e-16	7.74885e-16	0.870114	1	0
NDST4	64579	broad.mit.edu	37	4	115773883	115773883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:115773883G>C	ENST00000264363.2	-	8	2492	c.1814C>G	c.(1813-1815)aCa>aGa	p.T605R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	605	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T605R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGG	0.303000													24	71					0	0	0.667858	0	0
STEAP4	79689	broad.mit.edu	37	7	87913403	87913403	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:87913403C>T	ENST00000380079.4	-	2	283	c.182G>A	c.(181-183)gGt>gAt	p.G61D	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G61D|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G61D	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	61					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.G61D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GACTTCTGCACCACTGGGCAG	0.438000													20	128					0	0	0.639603	0	0
LRAT	9227	broad.mit.edu	37	4	155670250	155670250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:155670250G>T	ENST00000336356.3	+	3	908	c.655G>T	c.(655-657)Gca>Tca	p.A219S	LRAT_ENST00000507827.1_Missense_Mutation_p.A219S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	219					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	p.A219S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TACCCTTCCTGCAATTTTTAT	0.393000													30	153					7.83172e-31	1.27354e-30	0.796494	1	0
CFHR4	10877	broad.mit.edu	37	1	196871741	196871741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:196871741C>A	ENST00000367416.2	+	2	386	c.249C>A	c.(247-249)tgC>tgA	p.C83*	CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.C84*	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C83*(2)|p.C84*(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CGGTCCCATGCCTCAGTAAGT	0.348000													101	237					3.20437e-51	5.8227e-51	0.870114	1	0
DFNB31	25861	broad.mit.edu	37	9	117166348	117166348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:117166348G>T	ENST00000362057.3	-	10	2414	c.2246C>A	c.(2245-2247)aCg>aAg	p.T749K	DFNB31_ENST00000265134.6_Missense_Mutation_p.T366K|DFNB31_ENST00000374059.3_Missense_Mutation_p.T398K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	749					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.T749K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGAGCGTAGAGGCTGC	0.632000													4	12					0.27861	0.280945	0.278610	1	0
PIP4K2B	8396	broad.mit.edu	37	17	36935738	36935738	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:36935738C>T	ENST00000269554.3	-	5	1032	c.552G>A	c.(550-552)ctG>ctA	p.L184L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	184	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	p.L184L(3)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTACATGCCCAGGAACTGTG	0.517000													67	671					0	0	0.870114	0	0
A1CF	29974	broad.mit.edu	37	10	52580401	52580401	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:52580401C>G	ENST00000395489.2	-	10	1153	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.1_Missense_Mutation_p.E260Q|A1CF_ENST00000282641.2_Missense_Mutation_p.E260Q|A1CF_ENST00000395495.1_Missense_Mutation_p.E205Q|A1CF_ENST00000373995.3_Missense_Mutation_p.E268Q|A1CF_ENST00000373993.1_Missense_Mutation_p.E260Q|A1CF_ENST00000373997.3_Missense_Mutation_p.E260Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	260	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E260Q(2)|p.E268Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCACCCTCTCCACAGCACCT	0.388000													14	124					0	0	0.557998	0	0
C15orf60	283677	broad.mit.edu	37	15	73852136	73852136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:73852136C>A	ENST00000331090.6	+	6	708	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.S199Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	227								p.S227Y(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATGAACAATCTGCATGGGGT	0.463000													38	101					5.75399e-11	7.18751e-11	0.870114	1	0
FBXO40	51725	broad.mit.edu	37	3	121342078	121342078	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:121342078T>G	ENST00000338040.4	+	3	2216	c.1802T>G	c.(1801-1803)gTg>gGg	p.V601G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	601	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAGGTGTCTGTGCTGATGAGG	0.493000													5	242					0	0	0.248553	0	0
NLRP3	114548	broad.mit.edu	37	1	247587802	247587802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247587802G>T	ENST00000366497.2	+	4	1837	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	NLRP3_ENST00000391827.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391828.3_Missense_Mutation_p.V353L|NLRP3_ENST00000348069.2_Missense_Mutation_p.V353L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.V353L|NLRP3_ENST00000336119.3_Missense_Mutation_p.V353L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	353	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V353L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACGAGACCTGTGGCCCTGGA	0.557000													35	161					1.3203e-36	2.22378e-36	0.870114	1	0
KIAA1524	57650	broad.mit.edu	37	3	108278693	108278693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:108278693C>A	ENST00000295746.8	-	16	2000	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D483Y	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	642						cytoplasm|integral to membrane	protein binding	p.D642Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAAAGATCTTGTAGCCTG	0.353000													16	91					6.94344e-10	8.43967e-10	0.539581	1	0
SEMA3A	10371	broad.mit.edu	37	7	83640407	83640407	+	Splice_Site	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:83640407T>C	ENST00000265362.3	-	9	1240	c.925_splice	c.e9-1	p.Q309_splice	SEMA3A_ENST00000436949.1_Splice_Site_p.Q309_splice	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	309	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.Q309R(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAATACATCCTCTGTTTAAAA	0.313000													24	46					0	0	0.667858	0	0
AATF	26574	broad.mit.edu	37	17	35311178	35311178	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:35311178G>A	ENST00000225402.5	+	4	1054	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	268					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	p.G268D(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GACAAAGGTGGCCCAGAATTT	0.418000													11	119					0	0	0.435327	0	0
IPO8	10526	broad.mit.edu	37	12	30783888	30783888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:30783888G>T	ENST00000256079.4	-	25	3358	c.3020C>A	c.(3019-3021)gCa>gAa	p.A1007E	IPO8_ENST00000544829.1_Missense_Mutation_p.A802E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.A1007E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCTTCTTTGCCTCTAGCAT	0.398000													42	91					8.69298e-16	1.18124e-15	0.827153	1	0
DIO2	1734	broad.mit.edu	37	14	80669342	80669342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:80669342G>T	ENST00000557010.1	-	4	897	c.512C>A	c.(511-513)gCg>gAg	p.A171E	DIO2_ENST00000555750.1_Missense_Mutation_p.A207E|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_Silent_p.R46R|DIO2_ENST00000438257.4_Missense_Mutation_p.A171E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	171					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.A207E(2)|p.A171E(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCGGTATCGCCCAGCCATC	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	128					3.73988e-18	5.31535e-18	0.706142	1	0
ELF1	1997	broad.mit.edu	37	13	41507884	41507884	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:41507884G>C	ENST00000239882.3	-	9	1851	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q489E	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	513					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q513E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAATGGTCTGAACATTGCTA	0.517000													18	142					0	0	0.539581	0	0
SYTL2	54843	broad.mit.edu	37	11	85459316	85459316	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:85459316T>A	ENST00000316356.4	-	3	816	c.253_splice	c.e3+1	p.A84_splice	SYTL2_ENST00000528231.1_Splice_Site_p.A84_splice|SYTL2_ENST00000527523.1_Splice_Site_p.A36_splice|SYTL2_ENST00000524452.1_Splice_Site_p.A84_splice|SYTL2_ENST00000389960.4_Splice_Site_p.A84_splice			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	84					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.A84A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCAACTCACCTGCTATCTGGG	0.468000													120	233					0	0	0.870114	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555000	22555000	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22555000G>A	ENST00000390451.2	+	0	171																											TGATAGTCCAGAAAGGAGGGA	0.428000													9	65					0	0	0.361761	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213592	1213592	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:1213592C>A	ENST00000304460.10	+	5	734	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	226					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T226T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTACATCACCTCCACGCTGC	0.657000													3	15					0.00024832	0.000270282	0.150653	1	0
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:117718572G>A	ENST00000317775.6	-	8	2167	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.D494D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617000													8	79					0	0	0.335167	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396906	36396906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:36396906C>A	ENST00000317020.6	-	2	619	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	KIAA0895_ENST00000415803.2_Missense_Mutation_p.V145L|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.V107L|KIAA0895_ENST00000436884.1_Missense_Mutation_p.V7L|KIAA0895_ENST00000338533.5_Missense_Mutation_p.V145L|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000297063.6_Missense_Mutation_p.V158L	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	158								p.V158L(2)|p.V145L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCTTGTCACAGGCACCAGG	0.473000													19	60					4.26978e-12	5.4402e-12	0.654019	1	0
CNTN2	6900	broad.mit.edu	37	1	205030382	205030382	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:205030382C>A	ENST00000331830.4	+	8	1091	c.807C>A	c.(805-807)ccC>ccA	p.P269P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	269	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P269P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCTGTCCCCCGGATCAAGT	0.652000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	34					6.49762e-13	8.42745e-13	0.539581	1	0
MUC17	140453	broad.mit.edu	37	7	100680895	100680895	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:100680895A>C	ENST00000306151.4	+	3	6262	c.6198A>C	c.(6196-6198)acA>acC	p.T2066T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2066	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2066T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.488000													53	263					0	0	0.870114	0	0
SETBP1	26040	broad.mit.edu	37	18	42533120	42533120	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:42533120G>C	ENST00000282030.5	+	4	4111	c.3815G>C	c.(3814-3816)aGc>aCc	p.S1272T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1272						nucleus	DNA binding	p.S1218T(2)|p.S1272T(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGGTGGCAGCACGAGATCA	0.532000									Schinzel-Giedion syndrome				33	105					0	0	0.769981	0	0
CTNNA3	29119	broad.mit.edu	37	10	68936738	68936738	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:68936738C>G	ENST00000545309.1	-	7	1051	c.1052G>C	c.(1051-1053)tGt>tCt	p.C351S	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron			Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	801					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						cttttgattacagagctgaaa	0.358000													5	39					0	0	0.217242	0	0
UCMA	221044	broad.mit.edu	37	10	13264144	13264144	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:13264144C>A	ENST00000378681.3	-	5	448	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	UCMA_ENST00000463405.2_Missense_Mutation_p.G104C	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	126						proteinaceous extracellular matrix		p.G126C(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGGTGCAGGCCGTCATAGTGC	0.587000													16	69					3.32936e-07	3.85636e-07	0.539581	1	0
GPR63	81491	broad.mit.edu	37	6	97246908	97246908	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:97246908T>G	ENST00000229955.3	-	2	1045	c.700A>C	c.(700-702)Aca>Cca	p.T234P	GPR63_ENST00000417980.1_Missense_Mutation_p.T234P	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	234						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.T234P(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGATTGGTTGTGTACCCAAAC	0.448000													56	186					0	0	0.870114	0	0
RIMS1	22999	broad.mit.edu	37	6	72806785	72806785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:72806785G>T	ENST00000264839.7	+	3	379	c.379G>T	c.(379-381)Ggg>Tgg	p.G127W	RIMS1_ENST00000520567.1_Missense_Mutation_p.G127W|RIMS1_ENST00000491071.2_Missense_Mutation_p.G127W|RIMS1_ENST00000518273.1_Missense_Mutation_p.G127W|RIMS1_ENST00000517960.1_Missense_Mutation_p.G127W|RIMS1_ENST00000348717.5_Missense_Mutation_p.G127W|RIMS1_ENST00000522291.1_Missense_Mutation_p.G127W|RIMS1_ENST00000521978.1_Missense_Mutation_p.G127W			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	127	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G127W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTTTGCTGATGGGTGCGGTCA	0.507000													35	93					1.60099e-16	2.21439e-16	0.804634	1	0
DIP2C	22982	broad.mit.edu	37	10	409175	409175	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:409175C>T	ENST00000280886.6	-	21	2641	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.E173K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	852						nucleus	catalytic activity|transcription factor binding	p.E852K(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTCCTCTTCCGTGGAGTCA	0.607000													17	35					0	0	0.575678	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986279	51986279	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51986279G>C	ENST00000396477.4	+	4	703	c.682G>C	c.(682-684)Gac>Cac	p.D228H	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D289H	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	289						integral to membrane		p.D289H(2)|p.D228H(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGGGCCCGACTATGTGCT	0.552000													76	214					0	0	0.870114	0	0
KLHL6	89857	broad.mit.edu	37	3	183209920	183209920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:183209920G>C	ENST00000341319.3	-	7	1696	c.1661C>G	c.(1660-1662)gCg>gGg	p.A554G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	554								p.A554G(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTGCAGGGCGCGATACCGCA	0.657000													17	39					0	0	0.654019	0	0
SMC1B	27127	broad.mit.edu	37	22	45802673	45802673	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:45802673T>A	ENST00000357450.4	-	3	371	c.372A>T	c.(370-372)atA>atT	p.I124I	SMC1B_ENST00000404354.3_Silent_p.I124I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	124					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.I124I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATTATGCCTATCTTTTCCA	0.299000													28	90					0	0	0.834066	0	0
CSMD3	114788	broad.mit.edu	37	8	113299394	113299394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113299394G>A	ENST00000297405.5	-	58	9474	c.9230C>T	c.(9229-9231)aCt>aTt	p.T3077I	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22.					integral to membrane|plasma membrane		p.T3037I(1)|p.T3077I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAACGTACAGTACTTTTAGT	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	374					0	0	0.435327	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33631016	33631016	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:33631016G>A	ENST00000504830.1	-	13	2226	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H631Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACAAGGATGTGCTGAAGGG	0.488000										HNSCC(64;0.19)			15	451					0	0	0.575678	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049651	69049651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:69049651C>A	ENST00000295381.3	+	10	1796	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.S153R|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S452R|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.S420R|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S453R|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S460R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S453R(2)|p.S460R(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCCAACAGCAGCAAAATGG	0.478000													26	162					2.47511e-08	2.92635e-08	0.729181	1	0
KDM4A	9682	broad.mit.edu	37	1	44137514	44137514	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:44137514G>A	ENST00000372396.3	+	11	1836	c.1702G>A	c.(1702-1704)Gct>Act	p.A568T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	568					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.A568T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGGAAGCGCCGCTAGAAGTTT	0.612000													6	187					0	0	0.248553	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89196831	89196831	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:89196831C>G	ENST00000390244.2	+	0	84																											AGGTTCACCTCCTCAGCTTCC	0.453000													12	41					0	0	0.479597	0	0
FAM135B	51059	broad.mit.edu	37	8	139209901	139209901	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:139209901G>A	ENST00000395297.1	-	8	851	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	227								p.Y227Y(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGAGGTGATGTAGAAGCTTC	0.582000										HNSCC(54;0.14)			32	168					0	0	0.788014	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505620	44505620	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:44505620C>T	ENST00000255152.2	+	2	632	c.423C>T	c.(421-423)gcC>gcT	p.A141A	ZSWIM3_ENST00000454862.2_Silent_p.A135A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	141							zinc ion binding	p.A141A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTGACACTGCCGAGAAGTCCC	0.517000													6	78					0	0	0.217242	0	0
GMEB1	10691	broad.mit.edu	37	1	29041146	29041146	+	Missense_Mutation	SNP	C	C	T	rs148243859		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:29041146C>T	ENST00000373816.1	+	10	1691	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	GMEB1_ENST00000361872.4_Missense_Mutation_p.P518L|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Missense_Mutation_p.P528L	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	p.P518L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGCCCCGGACCCAGAA	0.532000													9	112					0	0	0.361761	0	0
OR4D5	219875	broad.mit.edu	37	11	123810656	123810656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:123810656G>T	ENST00000307033.2	+	1	407	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K111N(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGGCATCAAGATCTTCCTGC	0.498000													155	239					4.71032e-111	9.42935e-111	0.870114	1	0
INSL5	10022	broad.mit.edu	37	1	67266839	67266839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:67266839G>T	ENST00000304526.2	-	1	100	c.66C>A	c.(64-66)agC>agA	p.S22R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	22						extracellular region	hormone activity	p.S22R(2)		breast(2)|endometrium(1)|lung(5)	8						CAGACTCCTTGCTCCGCACTT	0.463000													74	148					4.38691e-48	7.89207e-48	0.870114	1	0
C8B	732	broad.mit.edu	37	1	57409484	57409484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:57409484G>T	ENST00000543257.1	-	9	1529	c.963C>A	c.(961-963)aaC>aaA	p.N321K	C8B_ENST00000371237.4_Missense_Mutation_p.N373K|C8B_ENST00000535057.1_Missense_Mutation_p.N311K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	373	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.N373K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATGGACGTTGTTAAGAGTAT	0.438000													52	296					4.63999e-43	8.13124e-43	0.870114	1	0
IPO8	10526	broad.mit.edu	37	12	30837234	30837234	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:30837234C>A	ENST00000256079.4	-	3	662		c.e3+1			NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCACCACATACCTCACTAAAT	0.398000													66	168					5.04879e-28	8.00562e-28	0.870114	1	0
PALD1	27143	broad.mit.edu	37	10	72293678	72293678	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:72293678G>T	ENST00000263563.6	+	8	1139	c.870_splice	c.e8-1	p.E291_splice		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.E291*(2)									TCTTTCCCAGGAGACCCCCAG	0.652000													5	49					0.000602214	0.0006496	0.184627	1	0
FAM65B	9750	broad.mit.edu	37	6	24843104	24843104	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:24843104C>G	ENST00000259698.4	-	14	2081	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	FAM65B_ENST00000540914.1_Missense_Mutation_p.D586H|FAM65B_ENST00000538035.1_Missense_Mutation_p.D615H|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000510784.2_Missense_Mutation_p.D620H|FAM65B_ENST00000378023.4_Missense_Mutation_p.D586H	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	636					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.D586H(2)|p.D636H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGAATATCATCCAAATTCATG	0.343000													11	42					0	0	0.387290	0	0
NUGGC	389643	broad.mit.edu	37	8	27888782	27888782	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:27888782T>C	ENST00000413272.2	-	15	2028	c.1886A>G	c.(1885-1887)aAa>aGa	p.K629R	NUGGC_ENST00000341513.6_Missense_Mutation_p.K629R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.K629R(4)									GAAATTTTTTTTGCAGCTATC	0.453000													54	343					0	0	0.870114	0	0
CUBN	8029	broad.mit.edu	37	10	17169920	17169920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:17169920G>A	ENST00000377833.4	-	3	321	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CUBN_ENST00000377823.1_Nonsense_Mutation_p.Q86*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	86					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTTTTCTGGATCTAATTT	0.284000													9	70					0	0	0.361761	0	0
OR8B12	219858	broad.mit.edu	37	11	124413479	124413479	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:124413479G>T	ENST00000306842.2	-	1	96	c.72C>A	c.(70-72)atC>atA	p.I24I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I24I(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAGAGGGGGATCCGCAGTC	0.547000													124	173					2.42353e-96	4.83368e-96	0.870114	1	0
SCN11A	11280	broad.mit.edu	37	3	38936055	38936055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:38936055T>A	ENST00000302328.3	-	15	3002	c.2804A>T	c.(2803-2805)cAg>cTg	p.Q935L	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q935L|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q935L|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q935L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	935					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q935L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGATGCGCTGTGCATTATC	0.488000													23	1187					0	0	0.520397	0	0
USP34	9736	broad.mit.edu	37	2	61505418	61505418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:61505418C>A	ENST00000398571.2	-	41	5391	c.5315G>T	c.(5314-5316)aGg>aTg	p.R1772M		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1772					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R1772M(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGGATCTCCCTACTACAAAA	0.338000													27	81					1.61788e-16	2.2349e-16	0.760397	1	0
BAGE2	85319	broad.mit.edu	37	21	11039168	11039168	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:11039168G>A	ENST00000470054.1	-	0	1035									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGACACTAAGGTTTCTAGTGG	0.408000													23	866					0	0	0.667858	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690476	77690476	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:77690476C>A	ENST00000521891.2	+	4	3574	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P	ZFHX4_ENST00000518282.1_Silent_p.P1016P|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.P1016P|ZFHX4_ENST00000050961.6_Silent_p.P1016P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGAATCCCGAATCCTGCT	0.483000										HNSCC(33;0.089)			195	337					3.39112e-68	6.58169e-68	0.870114	1	0
TENM4	26011	broad.mit.edu	37	11	78468036	78468036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:78468036C>A	ENST00000278550.7	-	19	3032	c.2570G>T	c.(2569-2571)tGc>tTc	p.C857F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.C857F(4)									CTGGAGGCAGCAGTCAGGGTC	0.537000													20	23					4.72057e-08	5.53288e-08	0.667858	1	0
HYDIN	54768	broad.mit.edu	37	16	70897063	70897063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:70897063G>T	ENST00000393567.2	-	68	11644	c.11494C>A	c.(11494-11496)Cgt>Agt	p.R3832S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3832								p.R3831S(2)|p.R3783S(2)|p.R3831C(1)|p.R3783C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTGGACACGTCCTGAATTA	0.463000													31	195					2.05212e-20	2.99925e-20	0.812448	1	0
OR2W3	343171	broad.mit.edu	37	1	248059622	248059622	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248059622T>A	ENST00000537741.1	+	3	991	c.734T>A	c.(733-735)cTc>cAc	p.L245H	OR2W3_ENST00000360358.3_Missense_Mutation_p.L245H			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245H(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCCATCTCACTGTGGTC	0.512000													14	388					0	0	0.457914	0	0
ZNF713	349075	broad.mit.edu	37	7	55991322	55991322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:55991322G>T	ENST00000429591.2	+	3	236	c.198G>T	c.(196-198)gaG>gaT	p.E66D	MRPS17_ENST00000426595.1_Missense_Mutation_p.E66D|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E66D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			gtaagccaGAGGTAATCGCGC	0.453000													13	73					1.3612e-06	1.55341e-06	0.479597	1	0
METTL4	64863	broad.mit.edu	37	18	2566948	2566948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:2566948G>A	ENST00000319888.6	-	2	1066	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL4_ENST00000574538.1_Missense_Mutation_p.P90S			Q8N3J2	METL4_HUMAN	methyltransferase like 4	90					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.P90S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAGTTCAGGTCGAAAAACA	0.368000													50	219					0	0	0.870114	0	0
IL17F	112744	broad.mit.edu	37	6	52109223	52109223	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:52109223G>T	ENST00000336123.4	-	1	112	c.5C>A	c.(4-6)aCa>aAa	p.T2K		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	2					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.T2K(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GGTCTTCACTGTCATGTTGCG	0.448000													9	277					0.00136819	0.0014527	0.411799	1	0
SCAF11	9169	broad.mit.edu	37	12	46320773	46320773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:46320773C>A	ENST00000465950.1	-	1	2975	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V	SCAF11_ENST00000419565.2_Missense_Mutation_p.G904V|SCAF11_ENST00000369367.3_Missense_Mutation_p.G904V|SCAF11_ENST00000549162.1_Missense_Mutation_p.G712V			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	904					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.G904V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTCTCCTGGGGAAGA	0.458000													126	159					1.06126e-43	1.87189e-43	0.870114	1	0
PDGFA	5154	broad.mit.edu	37	7	540753	540753	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:540753C>A	ENST00000402802.3	-	5	987	c.580_splice	c.e5+1	p.D194_splice	PDGFA_ENST00000354513.5_Splice_Site_p.G194_splice	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	0					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.G194*(2)|p.D194Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		AGCCACTCACCCGTGTCCTCT	0.552000													11	77					0.0809354	0.0823806	0.387290	1	0
OR2T8	343172	broad.mit.edu	37	1	248084416	248084416	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248084416G>T	ENST00000319968.4	+	1	97	c.97G>T	c.(97-99)Gtt>Ttt	p.V33F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGAGTATCGTTTTGACCTC	0.483000													32	212					1.8453e-21	2.75269e-21	0.853193	1	0
NRSN1	140767	broad.mit.edu	37	6	24134721	24134721	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:24134721A>T	ENST00000378491.4	+	3	467	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	NRSN1_ENST00000378478.1_Missense_Mutation_p.R56W|NRSN1_ENST00000378475.1_Missense_Mutation_p.R56W	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	56					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.R56W(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTAACAGGTGGAGCTC	0.453000													22	101					0	0	0.729181	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377943	48377943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:48377943A>T	ENST00000222002.3	-	5	855	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	239					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.V239E(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTTGTCCACTACATAATCAAC	0.403000													31	84					0	0	0.812448	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432850	73432850	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:73432850C>A	ENST00000263666.4	-	10	2981	c.2867G>T	c.(2866-2868)gGc>gTc	p.G956V	PDZRN3_ENST00000466780.1_Missense_Mutation_p.G613V|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G678V|PDZRN3_ENST00000462146.2_Missense_Mutation_p.G613V|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G673V	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	956							ubiquitin-protein ligase activity|zinc ion binding	p.G956V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGGTCATGCCGCTGCGCTC	0.667000													12	24					0.0135373	0.0140565	0.411799	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794437	15794437	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:15794437G>A	ENST00000550308.1	+	7	1162	c.782G>A	c.(781-783)cGc>cAc	p.R261H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R261H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGGCCTGCCGCCTGGTGCAT	0.552000													11	197					0	0	0.479597	0	0
STXBP1	6812	broad.mit.edu	37	9	130420719	130420719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:130420719C>G	ENST00000373302.3	+	4	374	c.235C>G	c.(235-237)Cca>Gca	p.P79A	STXBP1_ENST00000373299.1_Missense_Mutation_p.P79A	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	79					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.P79A(4)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCATCACTCCATCCGAGAA	0.483000													45	331					0	0	0.870114	0	0
BNIP2	663	broad.mit.edu	37	15	59961504	59961504	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:59961504T>A	ENST00000267859.3	-	8	1221	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000607373.1_Silent_p.T255T|BNIP2_ENST00000415213.2_Silent_p.T317T			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	255					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	p.T255T(2)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAGCCAGAAGTGTTCTGATAA	0.264000													16	51					0	0	0.639603	0	0
HP1BP3	50809	broad.mit.edu	37	1	21074085	21074085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:21074085C>A	ENST00000375003.2	-	7	2249	c.749G>T	c.(748-750)gGg>gTg	p.G250V	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402V			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GAACCCTTTCCCAGAGATCTG	0.373000													17	79					0.00465635	0.00488395	0.681144	1	0
TRMT2B	79979	broad.mit.edu	37	X	100278506	100278506	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:100278506C>T	ENST00000338687.7	-	7	1379	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	TRMT2B_ENST00000372939.1_Missense_Mutation_p.G192R|TRMT2B_ENST00000372931.5_Missense_Mutation_p.G237R|TRMT2B_ENST00000372935.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G237R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G237R			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	237							tRNA (uracil-5-)-methyltransferase activity	p.G237R(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATTGTGTGCCCTTGGCTATTG	0.443000													93	139					0	0	0.870114	0	0
REG3A	5068	broad.mit.edu	37	2	79384728	79384728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:79384728C>T	ENST00000393878.1	-	4	684	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	REG3A_ENST00000305165.2_Missense_Mutation_p.G144S|REG3A_ENST00000409839.3_Missense_Mutation_p.G144S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	144	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G144S(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCACAGTGGCCGGGGCTTGAG	0.542000													8	233					0	0	0.278610	0	0
HECW1	23072	broad.mit.edu	37	7	43283518	43283518	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:43283518T>A	ENST00000395891.1	+	3	619	c.14T>A	c.(13-15)cTg>cAg	p.L5Q	AC004692.4_ENST00000458680.1_RNA|AC004692.4_ENST00000457315.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.L5Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	5					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L5Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGCTGCACCTGTGTAGTGTG	0.448000													175	373					0	0	0.870114	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664295	38664295	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:38664295G>A	ENST00000336949.6	+	2	1041	c.96G>A	c.(94-96)gtG>gtA	p.V32V	MID1IP1_ENST00000378474.3_Silent_p.V32V|MID1IP1_ENST00000457894.1_Silent_p.V32V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	32					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		p.V32V(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACCAGACGGTGATGGTGCCCA	0.602000													21	27					0	0	0.654019	0	0
PRUNE2	158471	broad.mit.edu	37	9	79234264	79234264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:79234264C>A	ENST00000428286.1	-	18	9354	c.8154G>T	c.(8152-8154)atG>atT	p.M2718I	PRUNE2_ENST00000223609.6_Intron|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000443509.2_Missense_Mutation_p.M325I|PRUNE2_ENST00000376718.3_Missense_Mutation_p.M3076I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3076					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.M3076I(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTCCTTCTCCATAGAAGACA	0.428000													5	66					0.00116845	0.00124305	0.217242	1	0
ALMS1P	200420	broad.mit.edu	37	2	73899571	73899571	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:73899571A>G	ENST00000450720.1	+	0	443					NR_003683.2																						GCTCTTTACCAGTTATCCTGA	0.393000													16	103					0	0	0.624587	0	0
MEPE	56955	broad.mit.edu	37	4	88767150	88767150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:88767150C>A	ENST00000497649.2	+	6	1436	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	MEPE_ENST00000560249.1_Missense_Mutation_p.A264E|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.A377E|MEPE_ENST00000395102.4_Missense_Mutation_p.A408E|MEPE_ENST00000424957.3_Missense_Mutation_p.A377E|MEPE_ENST00000540395.1_Missense_Mutation_p.A264E			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	377					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A377E(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACCCTCCTGCACCCTCAAAA	0.438000													15	81					6.31663e-08	7.37167e-08	0.479597	1	0
TET1	80312	broad.mit.edu	37	10	70450858	70450858	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:70450858G>T	ENST00000373644.4	+	12	5907	c.5698G>T	c.(5698-5700)Ggc>Tgc	p.G1900C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1900					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.G1900C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGATGGCCCTGGCATTTCACA	0.567000													16	136					2.35188e-11	2.96173e-11	0.539581	1	0
MAN2C1	4123	broad.mit.edu	37	15	75650895	75650895	+	Missense_Mutation	SNP	C	C	T	rs150018240		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:75650895C>T	ENST00000565683.1	-	20	2373	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	MAN2C1_ENST00000563622.1_Missense_Mutation_p.A672T|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A771T|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A771T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	771					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.A771T(2)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGAACCAGGCGCTGCCCCGC	0.647000													8	14					0	0	0.335167	0	0
C1orf173	127254	broad.mit.edu	37	1	75042610	75042610	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:75042610T>A	ENST00000326665.5	-	13	2405	c.2187A>T	c.(2185-2187)tcA>tcT	p.S729S	C1orf173_ENST00000433746.2_Intron	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	729	Glu-rich.							p.S729S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAATGGCAATGAATCCTTTC	0.383000													6	188					0	0	0.217242	0	0
DENND1A	57706	broad.mit.edu	37	9	126641241	126641241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:126641241C>A	ENST00000373624.2	-	2	278	c.77G>T	c.(76-78)gGc>gTc	p.G26V	DENND1A_ENST00000373620.3_Missense_Mutation_p.G26V|DENND1A_ENST00000394215.2_Missense_Mutation_p.A11S|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373618.1_Missense_Mutation_p.A11S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	26	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.G26V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGAAAGAGTGCCACCTGTCCT	0.373000													56	521					1.88225e-35	3.14095e-35	0.870114	1	0
OR2T10	127069	broad.mit.edu	37	1	248756948	248756948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248756948C>G	ENST00000330500.2	-	1	152	c.122G>C	c.(121-123)tGg>tCg	p.W41S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W41S(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAATATTCCAAGACACAGC	0.423000													67	75					0	0	0.870114	0	0
CSMD2	114784	broad.mit.edu	37	1	34209016	34209016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:34209016C>A	ENST00000373381.4	-	14	2214	c.2038G>T	c.(2038-2040)Gcc>Tcc	p.A680S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4.					integral to membrane|plasma membrane	protein binding	p.A640S(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCTCGGCGGTGGCCCCA	0.617000													13	80					4.14922e-12	5.30532e-12	0.500413	1	0
PLB1	151056	broad.mit.edu	37	2	28843772	28843772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:28843772C>A	ENST00000422425.2	+	48	3465	c.3421C>A	c.(3421-3423)Ctc>Atc	p.L1141I	PLB1_ENST00000327757.5_Missense_Mutation_p.L1152I|PLB1_ENST00000541605.1_Missense_Mutation_p.L117I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1152	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L1141I(1)|p.L1152I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAACCCTTACCTCCTTGGCTT	0.552000													11	480					0.000151284	0.000165999	0.435327	1	0
BPIFB1	92747	broad.mit.edu	37	20	31873972	31873972	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:31873972C>T	ENST00000253354.1	+	2	254	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	31						extracellular space	lipid binding	p.L31L(2)									TTCTCATCCTCGGCCCAAAAG	0.567000													8	44					0	0	0.278610	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95210624	95210624	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:95210624G>T	ENST00000354268.4	+	24	3093	c.3019_splice	c.e24-1	p.G1007_splice	SMARCAD1_ENST00000509418.1_Splice_Site_p.G577_splice|SMARCAD1_ENST00000457823.2_Splice_Site_p.G1009_splice			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1007	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1007V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCTACAGGTGATGAAGGG	0.308000													83	366					1.46924e-35	2.45554e-35	0.870114	1	0
CACNA1E	777	broad.mit.edu	37	1	181759585	181759585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:181759585G>T	ENST00000526775.1	+	43	5899	c.5734G>T	c.(5734-5736)Ggc>Tgc	p.G1912C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1538C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1931C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1912C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1863C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1931C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1882C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1931					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G1931C(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTCAGGAGTGGCCGGAGTGG	0.542000													15	67					7.87624e-14	1.03897e-13	0.639603	1	0
DEFB112	245915	broad.mit.edu	37	6	50011302	50011302	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:50011302C>T	ENST00000322246.4	-	2	327	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	110					defense response to bacterium	extracellular region		p.D110N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGACGTGAGTCTTTAGGGTAC	0.408000													15	64					0	0	0.557998	0	0
BRAT1	221927	broad.mit.edu	37	7	2582880	2582880	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:2582880T>C	ENST00000340611.4	-	6	1137	c.881A>G	c.(880-882)cAc>cGc	p.H294R		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	294					response to ionizing radiation	nucleus	protein binding	p.H294R(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGGTCCCATGTGGGTGGGACC	0.642000													2	7					0	0	0.115264	0	0
OBSCN	84033	broad.mit.edu	37	1	228523918	228523918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:228523918C>A	ENST00000570156.2	+	75	19429	c.19355C>A	c.(19354-19356)tCa>tAa	p.S6452*	OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S2614*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S3129*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S5495*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S5495*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5495					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.S6077*(2)|p.S6207*(2)|p.S5495*(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCCATCTCAGCACAGGGG	0.572000													16	49					4.96729e-08	5.81576e-08	0.575678	1	0
NLRP4	147945	broad.mit.edu	37	19	56369376	56369376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:56369376C>A	ENST00000301295.6	+	3	1039	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.S131Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.S206Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	206	NACHT.						ATP binding	p.S206Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTTGATTTCCAGAGAGTGG	0.532000													28	120					4.74835e-14	6.2713e-14	0.750413	1	0
WDR27	253769	broad.mit.edu	37	6	170088913	170088913	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:170088913C>A	ENST00000333572.6	-	2	708	c.189_splice	c.e2+1	p.Q63_splice	WDR27_ENST00000423258.1_Splice_Site_p.Q63_splice|WDR27_ENST00000448612.1_Splice_Site_p.Q63_splice|WDR27_ENST00000420344.2_Splice_Site_p.Q63_splice			A2RRH5	WDR27_HUMAN	WD repeat domain 27	63								p.Q63H(6)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTCAATACCTGATGAGAAG	0.468000													151	362					1.3188e-82	2.60156e-82	0.870114	1	0
BIN2	51411	broad.mit.edu	37	12	51689596	51689596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:51689596C>G	ENST00000267012.4	-	9	806	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	BIN2_ENST00000452142.2_Missense_Mutation_p.V217L|BIN2_ENST00000604560.1_Missense_Mutation_p.V222L|BIN2_ENST00000544402.1_Missense_Mutation_p.V223L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	249						cytoplasm	protein binding	p.V249L(2)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTCCCTTCACCACAAAGACT	0.453000													122	250					0	0	0.870114	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988649	103988649	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:103988649A>T	ENST00000370005.3	+	4	674	c.453A>T	c.(451-453)acA>acT	p.T151T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	151					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.T151T(2)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACCACAGCACAGTGCTCGTGT	0.498000													37	54					0	0	0.864702	0	0
NXF1	10482	broad.mit.edu	37	11	62569274	62569274	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:62569274G>A	ENST00000531709.2	-	6	689	c.576C>T	c.(574-576)aaC>aaT	p.N192N	NXF1_ENST00000532297.1_Silent_p.N192N|NXF1_ENST00000439713.2_Silent_p.N192N|NXF1_ENST00000294172.2_Silent_p.N192N|NXF1_ENST00000531131.1_5'UTR	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	192	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.N192N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGAAGAGTTGATGATGA	0.488000													40	224					0	0	0.859065	0	0
KLK4	9622	broad.mit.edu	37	19	51412025	51412025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51412025C>A	ENST00000324041.1	-	3	284	c.285G>T	c.(283-285)caG>caT	p.Q95H	KLK4_ENST00000431178.2_Missense_Mutation_p.Q46H	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	95	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.Q95H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCACCATCTGGCTCCCTG	0.602000													61	129					4.88506e-25	7.57953e-25	0.870114	1	0
FRY	10129	broad.mit.edu	37	13	32811626	32811626	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:32811626A>T	ENST00000380250.3	+	44	6417	c.5921A>T	c.(5920-5922)gAa>gTa	p.E1974V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.E1974V(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAACTGCCGAACGGAGCCGG	0.532000													6	50					0	0	0.361761	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783353	140783353	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140783353A>T	ENST00000573521.1	+	1	834	c.834A>T	c.(832-834)gcA>gcT	p.A278A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCT	0.418000													27	66					0	0	0.740014	0	0
GPR112	139378	broad.mit.edu	37	X	135429796	135429796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:135429796C>T	ENST00000394143.1	+	6	4222	c.3931C>T	c.(3931-3933)Caa>Taa	p.Q1311*	GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1248*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1311*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1106*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q1311*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGTCACCAAACACATTC	0.443000													132	206					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70314575	70314575	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:70314575T>A	ENST00000377844.4	-	8	2512	c.1753A>T	c.(1753-1755)Agt>Tgt	p.S585C	KLHL1_ENST00000545028.1_Missense_Mutation_p.S392C	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	585					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S585C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTGACATACTGGCTACAAAT	0.403000													23	160					0	0	0.693898	0	0
ITIH2	3698	broad.mit.edu	37	10	7763676	7763676	+	Missense_Mutation	SNP	C	C	T	rs141514196		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:7763676C>T	ENST00000358415.4	+	8	969	c.803C>T	c.(802-804)gCg>gTg	p.A268V	ITIH2_ENST00000379587.4_Missense_Mutation_p.A257V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A268V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGGAGACTGCGGTAGATGGG	0.552000													13	96					0	0	0.520397	0	0
PLCB1	23236	broad.mit.edu	37	20	8770893	8770893	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:8770893G>T	ENST00000378641.3	+	31	3883	c.3408G>T	c.(3406-3408)ctG>ctT	p.L1136L	PLCB1_ENST00000378637.2_Silent_p.L1136L|PLCB1_ENST00000338037.6_Silent_p.L1136L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1136					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAGATCCTGGATGAAAAGC	0.338000													29	106					2.20474e-14	2.91898e-14	0.788014	1	0
NFIL3	4783	broad.mit.edu	37	9	94172835	94172835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:94172835C>A	ENST00000297689.3	-	2	576	c.182G>T	c.(181-183)cGg>cTg	p.R61L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	61					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R61L(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CCGTTTCCTCCGACATGCAGA	0.433000													52	231					2.84144e-21	4.20968e-21	0.870114	1	0
BRE	9577	broad.mit.edu	37	2	28464261	28464261	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:28464261G>T	ENST00000344773.2	+	9	989		c.e9+1		BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000342045.2_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.?(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTTTGGCACGTAAGTTCTGC	0.438000													14	189					1.33834e-09	1.61585e-09	0.557998	1	0
KRT6A	3853	broad.mit.edu	37	12	52885477	52885477	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:52885477C>A	ENST00000330722.6	-	2	652	c.584G>T	c.(583-585)tGg>tTg	p.W195L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	195	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.W195L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGGGTCCACTTTGTTTC	0.522000													29	42					2.84144e-21	4.20968e-21	0.870114	1	0
PXDN	7837	broad.mit.edu	37	2	1653089	1653089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:1653089C>A	ENST00000252804.4	-	17	2513	c.2463G>T	c.(2461-2463)tgG>tgT	p.W821C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	821					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.W821C(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAACTGGCCCCACTGCATCA	0.662000													3	17					0.115264	0.116555	0.115264	1	0
PLCD4	84812	broad.mit.edu	37	2	219492945	219492945	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:219492945A>T	ENST00000450993.2	+	7	1305	c.966A>T	c.(964-966)ggA>ggT	p.G322G	PLCD4_ENST00000417849.1_Silent_p.G322G|PLCD4_ENST00000432688.1_Silent_p.G322G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G322G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGTCGAGGGATATATACGGT	0.512000													9	190					0	0	0.411799	0	0
COL3A1	1281	broad.mit.edu	37	2	189872628	189872628	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:189872628G>A	ENST00000304636.3	+	46	3551	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1127	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.Q1127Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGTCAGCAGGGTGCAATCG	0.463000													61	74					0	0	0.870114	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:114107681C>T	ENST00000375418.3	-	1	158	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.K24K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGCTGTTCTCCTTGCAGACAT	0.577000													18	66					0	0	0.608945	0	0
PCDH10	57575	broad.mit.edu	37	4	134084177	134084177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:134084177G>T	ENST00000264360.4	+	4	3669	c.2843G>T	c.(2842-2844)gGc>gTc	p.G948V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	948					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G948V(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAGCTCTGGGCCACTCAGAT	0.483000													28	126					6.28921e-32	1.02733e-31	0.779181	1	0
OR2C3	81472	broad.mit.edu	37	1	247695358	247695358	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247695358C>T	ENST00000366487.3	-	2	817	c.456G>A	c.(454-456)ggG>ggA	p.G152G	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGTCAGACCCCCCAGCCAGG	0.562000													13	25					0	0	0.479597	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036699	58036699	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:58036699C>A	ENST00000556826.1	-	6	1170		c.e6-1		SLC35F4_ENST00000554729.1_Splice_Site|SLC35F4_ENST00000339762.6_Splice_Site	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.?(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAACAAGACCTGGAATGAGA	0.433000													5	36					0.00116845	0.00124305	0.217242	1	0
GUCY2F	2986	broad.mit.edu	37	X	108628501	108628501	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:108628501A>C	ENST00000218006.2	-	16	3258	c.2967T>G	c.(2965-2967)gtT>gtG	p.V989V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	989	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V989V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACTCCAGCAACAACCGGCC	0.478000													4	99					0	0	0.539581	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866251	131866251	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:131866251G>A	ENST00000359827.3	-	18	4343	c.3381C>T	c.(3379-3381)tcC>tcT	p.S1127S	PLXNA4_ENST00000321063.4_Silent_p.S1127S			Q9HCM2	PLXA4_HUMAN	plexin A4	1127	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.S1127S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGAGCAGGGACTGGACGT	0.602000													49	211					0	0	0.870114	0	0
OR13C5	138799	broad.mit.edu	37	9	107361248	107361248	+	Missense_Mutation	SNP	C	C	A	rs141723124	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:107361248C>A	ENST00000374779.2	-	1	540	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149C(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCCTATGATCCAGGACCCAG	0.458000													51	594					6.34439e-16	8.65362e-16	0.870114	1	0
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:166981296A>T	ENST00000061240.2	+	15	2610	c.1963A>T	c.(1963-1965)Aga>Tga	p.R655*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.R678*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	655	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R655*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCAGTACAGAATTTCTGT	0.418000													29	96					0	0	0.812448	0	0
ZNF831	128611	broad.mit.edu	37	20	57829002	57829002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:57829002C>G	ENST00000371030.2	+	5	4238	c.4238C>G	c.(4237-4239)aCt>aGt	p.T1413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1413						intracellular	nucleic acid binding|zinc ion binding	p.T1413S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCACAGCACTGCTGCCACA	0.498000													29	218					0	0	0.779181	0	0
SYT6	148281	broad.mit.edu	37	1	114640465	114640465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:114640465C>A	ENST00000393296.1	-	6	1476	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SYT6_ENST00000369547.1_Missense_Mutation_p.V382L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	467					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.V382L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGATCCCCACACGACAGACT	0.567000													33	216					2.52637e-11	3.17777e-11	0.812448	1	0
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:92101100G>T	ENST00000377067.3	+	2	621	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	83						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q83H(3)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGCTCGCCAGGATATGCAGC	0.438000													53	276					7.22619e-39	1.24025e-38	0.870114	1	0
SORCS3	22986	broad.mit.edu	37	10	106802840	106802840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:106802840C>G	ENST00000369701.3	+	5	1209	c.982C>G	c.(982-984)Cgg>Ggg	p.R328G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	328						integral to membrane	neuropeptide receptor activity	p.R328G(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTTGGAAGACGGTGGCAACT	0.438000													187	471					0	0	0.870114	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241225	109241225	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:109241225G>T	ENST00000370021.1	+	6	862		c.e6-1		PRPF38B_ENST00000370025.4_Splice_Site			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing|RNA splicing	spliceosomal complex		p.?(2)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TGTTTCTGTAGGACCTAGATG	0.353000													50	96					4.6707e-30	7.5498e-30	0.870114	1	0
BAGE2	85319	broad.mit.edu	37	21	11049486	11049486	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:11049486C>A	ENST00000470054.1	-	0	622									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATTGCCAACCTGCACG	0.448000													19	394					1.75199e-13	2.29155e-13	0.717897	1	0
BAG6	7917	broad.mit.edu	37	6	31614237	31614237	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:31614237G>C	ENST00000404765.2	-	8	1141	c.852C>G	c.(850-852)ctC>ctG	p.L284L	BAG6_ENST00000362049.6_Silent_p.L284L|BAG6_ENST00000375964.6_Silent_p.L290L|BAG6_ENST00000375976.4_Silent_p.L284L|BAG6_ENST00000211379.5_Silent_p.L284L|BAG6_ENST00000439687.2_Silent_p.L284L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	290	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.L284L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGAAGGGCTGGAGGCGACTCT	0.582000													7	100					0	0	0.307466	0	0
LCE3D	84648	broad.mit.edu	37	1	152552354	152552354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152552354T>A	ENST00000368787.3	-	2	115	c.59A>T	c.(58-60)aAg>aTg	p.K20M		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	20					keratinization			p.K20M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGGGACACTTGGGTGAGGG	0.602000													55	183					0	0	0.870114	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594437	11594437	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:11594437G>T	ENST00000294484.6	+	18	3513		c.e18-1		PTCHD2_ENST00000304391.6_Splice_Site|PTCHD2_ENST00000389575.3_Splice_Site	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2						cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.?(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTCCCCACAGACCACGTACA	0.627000													6	24					0.0293803	0.0300462	0.248553	1	0
GZMH	2999	broad.mit.edu	37	14	25075914	25075914	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:25075914G>T	ENST00000216338.4	-	5	680	c.636C>A	c.(634-636)gcC>gcA	p.A212A	GZMH_ENST00000557220.2_Silent_p.A81A|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Silent_p.A126A|RP11-104E19.1_ENST00000557736.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	212	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.A212A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GAATACCTTGGGCTACGTCCT	0.532000													24	122					1.06647e-15	1.44374e-15	0.788014	1	0
BRWD3	254065	broad.mit.edu	37	X	79936970	79936970	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:79936970T>C	ENST00000373275.4	-	40	4740	c.4524A>G	c.(4522-4524)ctA>ctG	p.L1508L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1508								p.L1508L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAGTAGATATAGTGAAAGCC	0.378000													72	80					0	0	0.870114	0	0
ANO6	196527	broad.mit.edu	37	12	45810526	45810526	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:45810526C>T	ENST00000320560.8	+	17	2258	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	ANO6_ENST00000425752.2_Silent_p.L686L|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.L668L|ANO6_ENST00000435642.1_Silent_p.L686L|ANO6_ENST00000423947.3_Silent_p.L707L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	686					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.L686L(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCTTTTCCACTGGCCCCTCT	0.473000													113	150					0	0	0.870114	0	0
F13A1	2162	broad.mit.edu	37	6	6318869	6318869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:6318869C>T	ENST00000264870.3	-	2	294	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	10					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G10E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTTCTGCCTCCAAAGGCGGT	0.478000													87	315					0	0	0.870114	0	0
OR2L3	391192	broad.mit.edu	37	1	248224532	248224532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248224532G>A	ENST00000359959.3	+	1	549	c.549G>A	c.(547-549)atG>atA	p.M183I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M183I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCCAGCAATGGTGACTCTGG	0.463000													118	750					0	0	0.870114	0	0
RBM44	375316	broad.mit.edu	37	2	238726701	238726701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:238726701C>T	ENST00000316997.4	+	3	1274	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RBM44_ENST00000409864.1_Missense_Mutation_p.S381F|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	380							nucleotide binding|RNA binding	p.S381F(4)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTCAAACTTCCTGGACCTCT	0.378000													9	70					0	0	0.361761	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979967	145979967	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:145979967A>C	ENST00000394413.3	-	7	1417	c.847T>G	c.(847-849)Tcg>Gcg	p.S283A	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S341A|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S349A|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S283A|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S283A|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S286A|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S283A|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S289A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.S283A(1)|p.S341A(1)|p.S286A(1)|p.S272A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGAAATCGAAGAGATAATT	0.423000													5	147					0	0	0.184627	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817990	22817990	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:22817990A>G	ENST00000404138.1	+	4	1306	c.795A>G	c.(793-795)ctA>ctG	p.L265L	ZBTB40_ENST00000375647.4_Silent_p.L265L|ZBTB40_ENST00000374651.4_Silent_p.L265L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L265L(2)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TAAAAAAACTAGAAATGTGTT	0.378000													69	182					0	0	0.870114	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995285	140995285	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:140995285C>A	ENST00000285879.4	+	4	2381	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	699							protein binding	p.L699I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTCCTCTTGAGGGAGA	0.562000										HNSCC(15;0.026)			23	30					3.28513e-13	4.27619e-13	0.667858	1	0
ESR1	2099	broad.mit.edu	37	6	152265375	152265375	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:152265375C>A	ENST00000440973.1	+	6	1198	c.828C>A	c.(826-828)ggC>ggA	p.G276G	ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Silent_p.G276G|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Silent_p.G276G|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000544394.1_Silent_p.G103G|ESR1_ENST00000206249.3_Silent_p.G276G	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	276	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.G276G(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATGGGGAGGGCAGGGGTGAAG	0.507000													46	154					4.96213e-28	7.87975e-28	0.870114	1	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:98188534C>G	ENST00000332650.5	+	1	211	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433000													168	758					0	0	0.870114	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452						integral to membrane		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358000													14	106					2.48551e-13	3.23923e-13	0.520397	1	0
LOXL4	84171	broad.mit.edu	37	10	100017495	100017495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:100017495G>T	ENST00000260702.3	-	8	1322	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	391	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.P391H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TTCCAGGGCAGGGCAGTCGCT	0.582000													27	47					3.09479e-21	4.57876e-21	0.827153	1	0
UNC13C	440279	broad.mit.edu	37	15	54307745	54307745	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:54307745T>A	ENST00000545554.1	+	1	2645	c.2645T>A	c.(2644-2646)aTg>aAg	p.M882K	UNC13C_ENST00000260323.11_Missense_Mutation_p.M882K|UNC13C_ENST00000537900.1_Missense_Mutation_p.M882K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	882					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.M882K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTGAAGTCATGGAACAAGTC	0.378000													96	198					0	0	0.870114	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204252	151204252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:151204252G>T	ENST00000409426.1	+	4	752	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	PIP5K1A_ENST00000368888.4_Missense_Mutation_p.V115L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V102L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V103L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	115	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.V115L(2)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATTTCTACGTGGTTGAGAG	0.488000													103	290					1.4093e-69	2.74017e-69	0.870114	1	0
REV1	51455	broad.mit.edu	37	2	100058928	100058928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:100058928G>C	ENST00000258428.3	-	5	582	c.354C>G	c.(352-354)atC>atG	p.I118M	REV1_ENST00000393445.3_Missense_Mutation_p.I118M|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	118	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I118M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCAGCTTTGATGCTGAAAC	0.413000								Direct reversal of damage					7	228					0	0	0.361761	0	0
TFPT	29844	broad.mit.edu	37	19	54618637	54618637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:54618637G>C	ENST00000391759.1	-	1	418	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	TFPT_ENST00000391757.1_Missense_Mutation_p.Q5E	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	5					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	p.Q5E(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCTTCTCTCTGCTCCAATTCC	0.522000			T	TCF3	pre-B ALL						OREG0003633|OREG0003635	type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	35					0	0	0.361761	0	0
TRBV27	28560	broad.mit.edu	37	7	142423595	142423595	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142423595A>G	ENST00000506718.1	+	0	603				TRBV27_ENST00000390399.3_RNA																							GAAGGGTACAAAGTCTCTCGA	0.502000													24	315					0	0	0.654019	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237364	84237364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:84237364G>A	ENST00000324537.5	+	7	787	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	SH3GL3_ENST00000434347.1_Missense_Mutation_p.G99S|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G91S|SH3GL3_ENST00000427482.2_Missense_Mutation_p.G91S			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	91	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G99S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCAGACGGAAGGCTTGCTGGG	0.517000													14	171					0	0	0.520397	0	0
ZNF322	79692	broad.mit.edu	37	6	26637670	26637670	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:26637670G>T	ENST00000415922.2	-	4	1757	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF322_ENST00000471278.1_Missense_Mutation_p.T371K	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.T371K(1)									AATGTGTACTGTCTGATGTTG	0.438000													52	880					3.86236e-30	6.26188e-30	0.870114	1	0
ELF2	1998	broad.mit.edu	37	4	139988852	139988852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:139988852G>C	ENST00000394235.2	-	7	1065	c.563C>G	c.(562-564)cCa>cGa	p.P188R	ELF2_ENST00000358635.3_Missense_Mutation_p.P140R|ELF2_ENST00000379549.2_Intron|ELF2_ENST00000265495.4_Missense_Mutation_p.P188R|ELF2_ENST00000379550.1_Missense_Mutation_p.P200R|ELF2_ENST00000510408.1_Missense_Mutation_p.P128R	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	200					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P188R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TCCTTCTCTTGGTTTCTTCTT	0.358000													33	103					0	0	0.827153	0	0
GRM3	2913	broad.mit.edu	37	7	86415735	86415735	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:86415735C>T	ENST00000361669.2	+	3	1726	c.627C>T	c.(625-627)aaC>aaT	p.N209N	AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Silent_p.N207N|GRM3_ENST00000439827.1_Silent_p.N209N|GRM3_ENST00000536043.1_Silent_p.N81N|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	209					synaptic transmission	integral to plasma membrane		p.N209N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCTTCTTCAACTGGACCTACG	0.572000													29	154					0	0	0.750413	0	0
WARS2	10352	broad.mit.edu	37	1	119619185	119619185	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:119619185T>C	ENST00000369426.5	-	2	139	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.I46V			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	46					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.I46V(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AGGTGGAGGATTCCTGTAGGT	0.448000													59	511					0	0	0.870114	0	0
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:21424254C>A	ENST00000304625.2	+	2	414	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418000													69	363					6.00099e-30	9.67123e-30	0.870114	1	0
LIPK	643414	broad.mit.edu	37	10	90486557	90486557	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:90486557G>C	ENST00000404190.1	+	2	111	c.111G>C	c.(109-111)caG>caC	p.Q37H		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	37					lipid catabolic process	extracellular region	hydrolase activity	p.Q37H(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTAGAGCCAGATTATTTCTT	0.313000													14	15					0	0	0.520397	0	0
C9orf64	84267	broad.mit.edu	37	9	86570403	86570403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:86570403C>A	ENST00000376344.3	-	2	706	c.490G>T	c.(490-492)Gga>Tga	p.G164*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.G23*|C9orf64_ENST00000376340.2_Nonsense_Mutation_p.G23*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	164								p.G164*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAAGAGCCTCCAAACTTCTCC	0.443000													14	43					0.00316338	0.00333912	0.479597	1	0
SCN4A	6329	broad.mit.edu	37	17	62018710	62018710	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:62018710C>G	ENST00000435607.1	-	24	5008	c.4932G>C	c.(4930-4932)gtG>gtC	p.V1644V	SCN4A_ENST00000578147.1_Silent_p.V1644V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1644V(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCAGGGTGTCCACGAAGTCTG	0.567000													15	47					0	0	0.520397	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145419	44145419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:44145419C>G	ENST00000260665.7	-	28	3072	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1005					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.Q1005H(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGGAACTTCCTGGTTACCCT	0.338000													33	121					0	0	0.870114	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412161	43412161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:43412161G>T	ENST00000310826.5	-	3	2227	c.2044C>A	c.(2044-2046)Ctc>Atc	p.L682I	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L682I|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L682I	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.L682I(2)									AATTGAGAGAGAAAGCGGTAC	0.433000													8	101					0.00448238	0.00471761	0.307466	1	0
DCTN5	84516	broad.mit.edu	37	16	23669846	23669846	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:23669846T>G	ENST00000300087.2	+	3	287	c.136T>G	c.(136-138)Tgt>Ggt	p.C46G	DCTN5_ENST00000563998.1_Missense_Mutation_p.C46G|DCTN5_ENST00000568589.1_Missense_Mutation_p.C46G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	46						centrosome	transferase activity	p.C46G(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GATGAATGACTGTATTATCCG	0.378000													6	249					0	0	0.217242	0	0
UMOD	7369	broad.mit.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:20360484C>A	ENST00000396134.2	-	4	361	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	UMOD_ENST00000424589.1_Missense_Mutation_p.V80F|UMOD_ENST00000302509.4_Missense_Mutation_p.V47F|UMOD_ENST00000396142.2_Missense_Mutation_p.V47F|UMOD_ENST00000570689.1_Missense_Mutation_p.V47F|UMOD_ENST00000396138.4_Missense_Mutation_p.V96F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	47	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612000													3	47					0.004672	0.00488395	0.115264	1	0
KIAA2018	205717	broad.mit.edu	37	3	113375768	113375768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:113375768G>T	ENST00000316407.4	-	7	5171	c.4761C>A	c.(4759-4761)aaC>aaA	p.N1587K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1587K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1587	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.N1587K(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTTATGATGGTTCCGACTAG	0.478000													24	92					1.37878e-21	2.05961e-21	0.654019	1	0
DUSP22	56940	broad.mit.edu	37	6	348110	348110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:348110G>T	ENST00000419235.2	+	6	349	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.G91W|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	91	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G91W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGCCTGGCCGGGGTCTCCAG	0.602000													17	174					1.77063e-15	2.39102e-15	0.693898	1	0
TTN	7273	broad.mit.edu	37	2	179443719	179443719	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179443719T>C	ENST00000589042.1	-	320	68262	c.68038A>G	c.(68038-68040)Atc>Gtc	p.I22680V	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20112V|TTN_ENST00000460472.2_Missense_Mutation_p.I13615V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13740V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I21039V|TTN_ENST00000342175.6_Missense_Mutation_p.I13807V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21039							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I20110V(1)|p.I13740V(1)|p.I20112V(1)|p.I13615V(1)|p.I13807V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTAGGATATAGTTGGTG	0.478000													11	86					0	0	0.411799	0	0
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:53854397G>C	ENST00000458035.1	+	4	586	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ZNF845_ENST00000595091.1_Missense_Mutation_p.E157Q	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157Q(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408000													7	214					0	0	0.248553	0	0
TXK	7294	broad.mit.edu	37	4	48114498	48114498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:48114498C>T	ENST00000264316.4	-	4	291	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R69Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAGTGGCTTTCGTTTTGACGG	0.433000													16	304					0	0	0.639603	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718254	103718254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:103718254C>A	ENST00000245312.3	-	1	942	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	116					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.A116S(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCAATAGGCCAAGATATTG	0.507000													23	270					8.24728e-16	1.1235e-15	0.681144	1	0
DUOX1	53905	broad.mit.edu	37	15	45444142	45444142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:45444142C>A	ENST00000321429.4	+	25	3492	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1029K|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q675K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1029	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.Q1029K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGTCTCCACCAGACGGTGCA	0.587000													15	51					1.15088e-07	1.33878e-07	0.500413	1	0
TBX3	6926	broad.mit.edu	37	12	115114148	115114148	+	Missense_Mutation	SNP	C	C	A	rs140580685	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:115114148C>A	ENST00000349155.2	-	5	1972	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	TBX3_ENST00000257566.3_Missense_Mutation_p.A357S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	357					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.A357S(2)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACAGTGGAGGCGGCTGGAGAA	0.522000													39	33					5.2432e-18	7.44219e-18	0.870114	1	0
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	G	C	rs148764513		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:3002623G>C	ENST00000381127.1	+	6	967	c.746G>C	c.(745-747)cGg>cCg	p.R249P	ARSF_ENST00000537104.1_Missense_Mutation_p.R249P|ARSF_ENST00000359361.2_Missense_Mutation_p.R249P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	249						extracellular region	arylsulfatase activity|metal ion binding	p.R249P(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCATGCGGGGGCACGAG	0.493000													28	36					0	0	0.779181	0	0
OR2J2	26707	broad.mit.edu	37	6	29141790	29141790	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:29141790T>C	ENST00000377167.2	+	1	480	c.378T>C	c.(376-378)gcT>gcC	p.A126A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A126A(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTATGTAGCTGTGTGTAGAC	0.453000													195	1380					0	0	0.870114	0	0
CDH1	999	broad.mit.edu	37	16	68849475	68849475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:68849475G>T	ENST00000261769.5	+	10	1569	c.1378G>T	c.(1378-1380)Gta>Tta	p.V460L	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.V399L	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	460	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.V460L(2)|p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACGAATGTGGTACCTTTTGA	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				47	259					4.44712e-29	7.12461e-29	0.870114	1	0
EPX	8288	broad.mit.edu	37	17	56270730	56270730	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:56270730A>T	ENST00000225371.5	+	3	280		c.e3-1			NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase						hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.?(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCTCCTGGGCAGCATCAAGCA	0.637000													44	251					0	0	0.870114	0	0
TG	7038	broad.mit.edu	37	8	134125713	134125713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:134125713C>A	ENST00000220616.4	+	44	7660	c.7620C>A	c.(7618-7620)taC>taA	p.Y2540*	TG_ENST00000377869.1_Nonsense_Mutation_p.Y2483*|TG_ENST00000519543.1_Nonsense_Mutation_p.Y673*|TG_ENST00000542445.1_Nonsense_Mutation_p.Y910*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2540					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Y2540*(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCCTTTTACCAGGCACTGC	0.488000													72	128					1.02218e-41	1.77692e-41	0.870114	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525673	176525673	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:176525673C>G	ENST00000367662.3	+	2	1379	c.215C>G	c.(214-216)cCc>cGc	p.P72R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P72R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	72					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P72R(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGTCTACCCCAGCAGGGCT	0.557000													181	494					0	0	0.870114	0	0
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:25014018G>A	ENST00000382114.4	-	7	944	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253						extracellular region		p.N253N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCACCATGCAGTTCTCCATGC	0.468000													49	281					0	0	0.870114	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140553818C>A	ENST00000231137.3	+	1	1576	c.1402C>A	c.(1402-1404)Ctg>Atg	p.L468M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632000													17	71					1.12875e-08	1.34186e-08	0.706142	1	0
CCDC63	160762	broad.mit.edu	37	12	111336809	111336809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:111336809G>T	ENST00000308208.5	+	10	1464	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	CCDC63_ENST00000545036.1_Missense_Mutation_p.D368Y|CCDC63_ENST00000552694.1_Missense_Mutation_p.D329Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	408								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAGACCTTGGATCTATTGAA	0.507000													82	81					1.13884e-41	1.97655e-41	0.870114	1	0
NLRP4	147945	broad.mit.edu	37	19	56370026	56370026	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:56370026G>T	ENST00000301295.6	+	3	1689	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W	NLRP4_ENST00000587891.1_Missense_Mutation_p.G348W|NLRP4_ENST00000346986.5_Missense_Mutation_p.G423W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	423	NACHT.						ATP binding	p.G423W(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGAAATGGGGTTGTTGA	0.562000													37	148					1.32136e-16	1.8323e-16	0.840704	1	0
PLB1	151056	broad.mit.edu	37	2	28855858	28855858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:28855858C>A	ENST00000422425.2	+	55	4061	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	PLB1_ENST00000327757.5_Missense_Mutation_p.F1350L|PLB1_ENST00000541605.1_Missense_Mutation_p.F315L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1350	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.F1339L(2)|p.F1350L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTTTCACTTCTCAGACCGCG	0.562000													30	264					1.69901e-12	2.18531e-12	0.812448	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	86					0	0	0.361761	0	0
OR2G6	391211	broad.mit.edu	37	1	248685280	248685280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248685280G>A	ENST00000343414.4	+	1	365	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCGTCTGAGTGTATTCTCT	0.552000													50	590					0	0	0.870114	0	0
CACNA1S	779	broad.mit.edu	37	1	201029820	201029820	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:201029820A>G	ENST00000362061.3	-	26	3606	c.3380T>C	c.(3379-3381)cTc>cCc	p.L1127P	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1127P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1127					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.L1127P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAGCATGATGAGGGCAAACAT	0.537000													9	390					0	0	0.387290	0	0
DYRK4	8798	broad.mit.edu	37	12	4722693	4722693	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:4722693A>G	ENST00000540757.2	+	13	1497	c.1337A>G	c.(1336-1338)aAa>aGa	p.K446R	DYRK4_ENST00000543431.1_Missense_Mutation_p.K445R|DYRK4_ENST00000010132.5_Missense_Mutation_p.K446R|DYRK4_ENST00000545342.1_Missense_Mutation_p.K83R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	446						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K847R(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GAGATCACCAAAGAGACTACA	0.438000													21	131					0	0	0.654019	0	0
ERG	2078	broad.mit.edu	37	21	39775598	39775598	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:39775598T>G	ENST00000442448.1	-	6	714	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	ERG_ENST00000398907.1_Missense_Mutation_p.Q141P|ERG_ENST00000453032.2_Missense_Mutation_p.Q49P|ERG_ENST00000398897.1_Missense_Mutation_p.Q49P|ERG_ENST00000398910.1_Missense_Mutation_p.Q148P|ERG_ENST00000398919.2_Missense_Mutation_p.Q148P|ERG_ENST00000288319.7_Missense_Mutation_p.Q141P|ERG_ENST00000398911.1_Missense_Mutation_p.Q148P|ERG_ENST00000398905.1_Missense_Mutation_p.Q141P|ERG_ENST00000429727.2_Intron|ERG_ENST00000417133.2_Missense_Mutation_p.Q148P	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	148	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q148P(2)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCCAGCCACTGCCGCACATG	0.507000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								57	183					0	0	0.870114	0	0
CLC	1178	broad.mit.edu	37	19	40228577	40228577	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:40228577C>T	ENST00000221804.4	-	1	91		c.e1+1			NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin						lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TTTTAACTCACGGGTAGCAGG	0.428000													21	690					0	0	0.729181	0	0
RP1L1	94137	broad.mit.edu	37	8	10469886	10469886	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:10469886G>T	ENST00000382483.3	-	4	1945	c.1722C>A	c.(1720-1722)ccC>ccA	p.P574P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	574					intracellular signal transduction			p.P574P(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGAGAAGCGGGGTCGCCTC	0.652000													6	33					0.0293803	0.0300462	0.248553	1	0
TOPORS	10210	broad.mit.edu	37	9	32544246	32544246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:32544246C>G	ENST00000360538.2	-	3	393	c.277G>C	c.(277-279)Gta>Cta	p.V93L	TOPORS_ENST00000379858.1_Missense_Mutation_p.V28L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.V93L(2)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAGCTGGTACTGTCTGTTGC	0.373000													7	102					0	0	0.335167	0	0
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:27196029C>G	ENST00000242159.3	-	1	269	c.136G>C	c.(136-138)Gcc>Ccc	p.A46P		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622000													6	12					0	0	0.248553	0	0
SLC10A7	84068	broad.mit.edu	37	4	147425062	147425062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:147425062C>A	ENST00000432059.2	-	4	581	c.335G>T	c.(334-336)gGt>gTt	p.G112V	SLC10A7_ENST00000511374.1_Missense_Mutation_p.R66S|SLC10A7_ENST00000394059.4_Missense_Mutation_p.G112V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000335472.7_Missense_Mutation_p.G112V|SLC10A7_ENST00000507030.1_Missense_Mutation_p.G112V|SLC10A7_ENST00000394062.3_Missense_Mutation_p.G112V|SLC10A7_ENST00000264986.3_Missense_Mutation_p.R66S			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	112						integral to membrane	bile acid:sodium symporter activity	p.G112V(4)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGGCATGCAACCTACTGTCTG	0.373000													19	108					1.87028e-06	2.13212e-06	0.608945	1	0
SLC5A11	115584	broad.mit.edu	37	16	24895432	24895432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:24895432C>T	ENST00000347898.3	+	8	1266	c.644C>T	c.(643-645)gCg>gTg	p.A215V	SLC5A11_ENST00000567758.1_Missense_Mutation_p.A180V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A180V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A151V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A151V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	215					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.A215V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTATAGGAGCGCTCACCTTG	0.592000													91	313					0	0	0.870114	0	0
ALOX5	240	broad.mit.edu	37	10	45907644	45907644	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:45907644T>A	ENST00000374391.2	+	4	490	c.437T>A	c.(436-438)aTg>aAg	p.M146K	ALOX5_ENST00000542434.1_Missense_Mutation_p.M146K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	146	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.M146K(2)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTCAGATGGATGGAGTGGAAC	0.498000													4	74					0	0	0.217242	0	0
OGN	4969	broad.mit.edu	37	9	95165620	95165620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:95165620G>T	ENST00000262551.4	-	2	490	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.Q24K	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	24						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAGTCCTGCTGGGTTGGTGGT	0.383000													34	85					4.14481e-20	6.0172e-20	0.819951	1	0
UGDH	7358	broad.mit.edu	37	4	39515801	39515801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:39515801C>A	ENST00000316423.6	-	3	508	c.166G>T	c.(166-168)Gga>Tga	p.G56*	UGDH_ENST00000506179.1_Nonsense_Mutation_p.G56*|UGDH_ENST00000507089.1_De_novo_Start_OutOfFrame|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Nonsense_Mutation_p.G56*	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	56					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.G56*(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TCTTTTAGTCCTGGCTAAAAA	0.313000													11	37					0.0202918	0.0209295	0.457914	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	50					0	0	0.184627	0	0
CNTN6	27255	broad.mit.edu	37	3	1415642	1415642	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:1415642A>C	ENST00000446702.2	+	16	2607	c.1980A>C	c.(1978-1980)gcA>gcC	p.A660A	CNTN6_ENST00000350110.2_Silent_p.A660A|CNTN6_ENST00000539053.1_Silent_p.A588A			Q9UQ52	CNTN6_HUMAN	contactin 6	660	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.A660A(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATACAATGCAACAGTGGTTG	0.388000													45	122					0	0	0.870114	0	0
C4orf22	255119	broad.mit.edu	37	4	81866088	81866088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:81866088C>A	ENST00000358105.3	+	5	650	c.601C>A	c.(601-603)Cca>Aca	p.P201T	C4orf22_ENST00000508675.1_Missense_Mutation_p.P218T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	201								p.P201T(2)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TAATGTGGACCCAAAGGTAAT	0.323000													24	96					1.88708e-17	2.6473e-17	0.729181	1	0
SMARCD3	6604	broad.mit.edu	37	7	150939644	150939644	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:150939644C>A	ENST00000392811.2	-	6	937	c.463G>T	c.(463-465)Gcg>Tcg	p.A155S	SMARCD3_ENST00000356800.2_Missense_Mutation_p.A155S|SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000262188.8_Missense_Mutation_p.A168S	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	p.A155S(2)|p.A168S(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGGCTTCGCAGGGTTAAAA	0.577000													18	46					1.2644e-06	1.44905e-06	0.592651	1	0
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:10822872G>C	ENST00000250237.5	+	6	692	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617000													10	13					0	0	0.457914	0	0
F8	2157	broad.mit.edu	37	X	154157069	154157069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:154157069G>A	ENST00000360256.4	-	14	5196	c.4996C>T	c.(4996-4998)Caa>Taa	p.Q1666*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1666	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q1666*(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTTCCCGTTGATGGCGTTTC	0.408000													24	341					0	0	0.667858	0	0
RBM47	54502	broad.mit.edu	37	4	40440430	40440430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:40440430T>A	ENST00000319592.4	-	4	1190	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	RBM47_ENST00000295971.7_Missense_Mutation_p.M161L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.M161L|RBM47_ENST00000514014.1_Missense_Mutation_p.M123L|RBM47_ENST00000381793.2_Missense_Mutation_p.M161L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	161	RRM 2.					nucleus	nucleotide binding|RNA binding	p.M161L(6)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTTCTTCATCTTGGGGATC	0.627000													9	23					0	0	0.335167	0	0
OR52K1	390036	broad.mit.edu	37	11	4510989	4510989	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:4510989C>G	ENST00000307632.3	+	1	881	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTTTCCCACCCATGGTCAA	0.463000													126	522					0	0	0.870114	0	0
HDHD1	8226	broad.mit.edu	37	X	6995465	6995465	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:6995465C>A	ENST00000381077.5	-	3	382	c.306G>T	c.(304-306)ctG>ctT	p.L102L	HDHD1_ENST00000540122.1_Silent_p.L102L|HDHD1_ENST00000424830.2_Silent_p.L125L|HDHD1_ENST00000412827.2_Silent_p.L59L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	102					nucleotide metabolic process		metal ion binding|phosphatase activity	p.L88L(2)		breast(2)|large_intestine(1)|lung(3)	6						CATGTTTCCGCAGGTGGATGA	0.592000													10	44					2.31682e-05	2.57346e-05	0.479597	1	0
LRIT2	340745	broad.mit.edu	37	10	85982089	85982089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:85982089C>A	ENST00000372113.4	-	3	1245	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.G424*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTATTGATTCCGGGGCCAATG	0.557000													64	86					1.15062e-32	1.88579e-32	0.870114	1	0
GTF3C1	2975	broad.mit.edu	37	16	27540011	27540011	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:27540011T>A	ENST00000356183.4	-	6	896	c.881A>T	c.(880-882)tAc>tTc	p.Y294F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y294F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	294						transcription factor TFIIIC complex	DNA binding|protein binding	p.Y294F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATATACTGGTACAGACGCTT	0.453000													21	562					0	0	0.667858	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811918	56811918	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:56811918C>A	ENST00000229201.4	-	27	3605	c.3451_splice	c.e27+1	p.E1151_splice	TIMELESS_ENST00000553532.1_Splice_Site_p.E1152_splice|TIMELESS_ENST00000554616.1_Splice_Site_p.E649_splice	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1152					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.E1152*(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCACTATTACCCTCTGGGGAT	0.532000													112	172					7.55469e-51	1.37047e-50	0.870114	1	0
SLC17A4	10050	broad.mit.edu	37	6	25769244	25769244	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:25769244C>A	ENST00000377905.4	+	3	242	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC17A4_ENST00000439485.2_Silent_p.L41L|SLC17A4_ENST00000397076.2_5'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	41					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.L41L(2)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCCCTCATCTTGCAGC	0.468000													35	123					3.61848e-18	5.15633e-18	0.834066	1	0
PRRC2C	23215	broad.mit.edu	37	1	171482234	171482234	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:171482234C>G	ENST00000367742.3	+	3	455	c.213C>G	c.(211-213)ggC>ggG	p.G71G	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000338920.4_Silent_p.G69G|PRRC2C_ENST00000426496.2_Silent_p.G69G|PRRC2C_ENST00000392078.3_Silent_p.G71G			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	69							protein C-terminus binding	p.G71G(2)									AAAACAAAGGCAATGATCCTA	0.423000													9	379					0	0	0.361761	0	0
BRINP3	339479	broad.mit.edu	37	1	190067423	190067423	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:190067423C>G	ENST00000367462.3	-	8	2257	c.2026G>C	c.(2026-2028)Gac>Cac	p.D676H	FAM5C_ENST00000534846.1_Missense_Mutation_p.D574H|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		676						extracellular region		p.D676H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTTCAGGGTCAAAGTGCATG	0.458000													58	270					0	0	0.870114	0	0
OR6K2	81448	broad.mit.edu	37	1	158670253	158670253	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:158670253T>A	ENST00000359610.2	-	1	233	c.190A>T	c.(190-192)Agt>Tgt	p.S64C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAAAGAGCACTGATAAAAGTA	0.438000													156	386					0	0	0.870114	0	0
PTPN5	84867	broad.mit.edu	37	11	18754824	18754824	+	Silent	SNP	C	C	A	rs116891792	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:18754824C>A	ENST00000396170.1	-	11	2344	c.1080G>T	c.(1078-1080)acG>acT	p.T360T	PTPN5_ENST00000396168.1_Silent_p.T368T|PTPN5_ENST00000358540.2_Silent_p.T392T|PTPN5_ENST00000396167.2_Silent_p.T360T|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Silent_p.T392T|PTPN5_ENST00000477854.1_Silent_p.T196T	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	392	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.T392T(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAATGATGGGCGTGTGCTCCT	0.577000													13	92					1.02788e-11	1.30046e-11	0.520397	1	0
FRMPD2	143162	broad.mit.edu	37	10	49450216	49450216	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:49450216A>T	ENST00000374201.3	-	5	857	c.555T>A	c.(553-555)ggT>ggA	p.G185G	FRMPD2_ENST00000407470.4_Silent_p.G154G|FRMPD2_ENST00000305531.3_Silent_p.G161G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	185	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G185G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAATGGTACCCAGAACCA	0.448000													6	196					0	0	0.307466	0	0
RBM7	10179	broad.mit.edu	37	11	114276519	114276519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:114276519G>T	ENST00000541475.1	+	4	504	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	RBM7_ENST00000545678.1_Missense_Mutation_p.V26L|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.Q143H|RBM7_ENST00000540163.1_Missense_Mutation_p.V146L|RBM7_ENST00000375490.5_Missense_Mutation_p.V147L|RBM7_ENST00000544582.1_Missense_Mutation_p.V146L			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	146					meiosis		nucleotide binding|protein binding|RNA binding	p.V146L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGACAAGCAGTGGTAGGTTG	0.323000													71	115					2.15109e-50	3.88919e-50	0.870114	1	0
C1orf116	79098	broad.mit.edu	37	1	207195442	207195442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:207195442G>T	ENST00000359470.5	-	4	1916	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	C1orf116_ENST00000461135.2_Missense_Mutation_p.S310Y	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	556						cytoplasm|plasma membrane	receptor activity	p.S556Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CAGGCGCTTGGAGCTCTGCTC	0.597000													7	54					0.000274275	0.000297934	0.307466	1	0
MAP2K3	5606	broad.mit.edu	37	17	21201787	21201787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:21201787C>A	ENST00000342679.4	+	2	361	c.112C>A	c.(112-114)Ccc>Acc	p.P38T	MAP2K3_ENST00000361818.5_Missense_Mutation_p.P9T|MAP2K3_ENST00000316920.6_Missense_Mutation_p.P9T	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	38					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P42T(2)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGCACCCAACCCCACGTGAGT	0.582000													8	49					0.0809354	0.0823806	0.387290	1	0
OR9G4	283189	broad.mit.edu	37	11	56510307	56510307	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:56510307T>C	ENST00000302957.3	-	1	980	c.981A>G	c.(979-981)acA>acG	p.T327T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T327T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACCTTCATGTTTGTGGTT	0.363000													79	275					0	0	0.870114	0	0
NID1	4811	broad.mit.edu	37	1	236201439	236201439	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:236201439C>A	ENST00000264187.6	-	5	1332	c.1250G>T	c.(1249-1251)gGc>gTc	p.G417V	NID1_ENST00000366595.3_Missense_Mutation_p.G417V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	417	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G417V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCCCGTATAGCCAGCGACACA	0.542000													30	159					3.11337e-16	4.27891e-16	0.769981	1	0
FAM83C	128876	broad.mit.edu	37	20	33876672	33876672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:33876672G>T	ENST00000374408.3	-	2	699	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	201								p.Y201*(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGAGCAGGTACACAGGGA	0.602000													15	62					2.4624e-09	2.96638e-09	0.575678	1	0
HP1BP3	50809	broad.mit.edu	37	1	21074086	21074086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:21074086C>A	ENST00000375003.2	-	7	2248	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402W			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AACCCTTTCCCAGAGATCTGT	0.368000													17	81					0.00465635	0.00488395	0.681144	1	0
TRAM1	23471	broad.mit.edu	37	8	71512306	71512306	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:71512306T>A	ENST00000521425.1	-	0	913				TRAM1_ENST00000536748.1_Missense_Mutation_p.K14N|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.K45N			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.K45N(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGATAGAAGCTTTTGCCGTTA	0.368000													47	72					0	0	0.870114	0	0
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592000										HNSCC(7;0.00092)			129	187					8.32301e-65	1.59537e-64	0.870114	1	0
ZNF268	10795	broad.mit.edu	37	12	133779409	133779409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:133779409G>T	ENST00000536435.2	+	6	1467	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.Q379H|ZNF268_ENST00000537565.1_Missense_Mutation_p.Q218H|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	379						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTCACACCAGAAAACTCATT	0.388000													11	17					0.0135373	0.0140565	0.411799	1	0
HEPH	9843	broad.mit.edu	37	X	65417580	65417580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:65417580G>T	ENST00000519389.1	+	10	1898	c.1719G>T	c.(1717-1719)tgG>tgT	p.W573C	HEPH_ENST00000441993.2_Missense_Mutation_p.W522C|HEPH_ENST00000343002.2_Missense_Mutation_p.W519C|HEPH_ENST00000336279.5_Missense_Mutation_p.W252C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.W522C			Q9BQS7	HEPH_HUMAN	hephaestin	519	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.W519C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATACCGCTGGACAGTCCCCC	0.488000													59	83					2.49387e-53	4.56998e-53	0.870114	1	0
C10orf12	26148	broad.mit.edu	37	10	98743749	98743749	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:98743749T>A	ENST00000286067.2	+	1	2709	c.2602T>A	c.(2602-2604)Ttt>Att	p.F868I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	868								p.F868I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATGACAAACTTTAAATTATC	0.398000													4	123					0	0	0.150653	0	0
DICER1	23405	broad.mit.edu	37	14	95573945	95573945	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:95573945C>T	ENST00000526495.1	-	19	3095	c.2804_splice	c.e19+1	p.R935_splice	DICER1_ENST00000393063.1_Splice_Site_p.R935_splice|DICER1_ENST00000343455.3_Splice_Site_p.R935_splice|DICER1_ENST00000541352.1_Splice_Site_p.R935_splice|DICER1_ENST00000527414.1_Splice_Site_p.R935_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	935	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R935K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATACCTACCTTGGAATGAT	0.418000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				6	153					0	0	0.248553	0	0
PDE8B	8622	broad.mit.edu	37	5	76607850	76607850	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:76607850C>T	ENST00000264917.5	+	2	416	c.371C>T	c.(370-372)cCc>cTc	p.P124L	PDE8B_ENST00000340978.3_Missense_Mutation_p.P124L|PDE8B_ENST00000333194.4_Missense_Mutation_p.P124L|PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000346042.3_Missense_Mutation_p.P124L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	124					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.P124L(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGCATCGGGCCCATGAGACTG	0.428000													20	678					0	0	0.667858	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773147	140773147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140773147C>A	ENST00000398604.2	+	1	767	c.767C>A	c.(766-768)cCc>cAc	p.P256H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1												p.P256H(2)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACATGCCCCCAGGCACG	0.488000													20	35					2.89027e-11	3.6145e-11	0.624587	1	0
PRR16	51334	broad.mit.edu	37	5	120022158	120022158	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:120022158G>T	ENST00000379551.2	+	3	957	c.600G>T	c.(598-600)cgG>cgT	p.R200R	PRR16_ENST00000407149.2_Silent_p.R223R|PRR16_ENST00000446965.1_Silent_p.R153R|PRR16_ENST00000505123.1_Silent_p.R153R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	223	Pro-rich.							p.R200R(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTGATACCCGGTATAACATAA	0.512000													35	169					2.20914e-33	3.63602e-33	0.859065	1	0
STPG2	285555	broad.mit.edu	37	4	98480220	98480220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:98480220C>T	ENST00000295268.3	-	11	1458	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.D457N(2)									CACATTATATCAGCAGCCATT	0.284000													59	249					0	0	0.870114	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182405	57182405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:57182405G>T	ENST00000504228.1	+	6	2842	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A913S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A906S			Q6ZU35	K1211_HUMAN	KIAA1211	913								p.A913S(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCGGAAGCAAGCCCCTTCCAC	0.687000													9	26					4.68919e-08	5.50205e-08	0.361761	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702834	40702834	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:40702834A>C	ENST00000356699.5	+	4	520	c.491A>C	c.(490-492)gAt>gCt	p.D164A	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.D164A(4)									CATCCTCAGGATCTGGCCTCC	0.587000													92	436					0	0	0.870114	0	0
LHCGR	3973	broad.mit.edu	37	2	48941147	48941147	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:48941147T>G	ENST00000294954.7	-	7	604	c.583A>C	c.(583-585)Aat>Cat	p.N195H	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.N195H|LHCGR_ENST00000405626.1_Missense_Mutation_p.N195H|LHCGR_ENST00000403273.1_Missense_Mutation_p.N195H|LHCGR_ENST00000344775.3_Missense_Mutation_p.N195H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	195					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.N195H(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCGTCCCATTGAATGCATGA	0.378000													22	198					0	0	0.717897	0	0
TRIM55	84675	broad.mit.edu	37	8	67064862	67064862	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:67064862G>A	ENST00000315962.4	+	8	1609	c.1236_splice	c.e8+1	p.Q412_splice	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Splice_Site_p.Q412_splice|TRIM55_ENST00000353317.5_Splice_Site_p.Q412_splice	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	412						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGTGACACAGGTAACCCCTC	0.542000													33	143					0	0	0.819951	0	0
AE000661.37	0	broad.mit.edu	37	14	22951283	22951283	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22951283G>T	ENST00000514473.2	-	0	107				TRAJ54_ENST00000390484.1_RNA																							GTGTAATTCAGGGAGCCCAGA	0.532000													22	36					9.86323e-18	1.39087e-17	0.667858	1	0
STARD13	90627	broad.mit.edu	37	13	33704350	33704350	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:33704350C>A	ENST00000336934.5	-	5	580	c.464G>T	c.(463-465)cGt>cTt	p.R155L	STARD13_ENST00000255486.4_Missense_Mutation_p.R147L|STARD13_ENST00000399365.3_Missense_Mutation_p.R37L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	155					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R155L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTCGTCCACACGAGACCACCT	0.552000													20	140					1.12875e-08	1.34186e-08	0.706142	1	0
NYNRIN	57523	broad.mit.edu	37	14	24877306	24877306	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:24877306G>T	ENST00000382554.3	+	3	748	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	144					DNA integration	integral to membrane	DNA binding	p.G144C(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGCGCTGGGGCCCTGCCCC	0.687000													5	19					0.00116845	0.00124305	0.217242	1	0
CEP78	84131	broad.mit.edu	37	9	80869847	80869847	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:80869847T>C	ENST00000424347.2	+	11	1636	c.1347T>C	c.(1345-1347)ccT>ccC	p.P449P	CEP78_ENST00000415759.2_Silent_p.P450P|CEP78_ENST00000487108.2_3'UTR|CEP78_ENST00000376597.4_Silent_p.P450P|CEP78_ENST00000277082.5_Silent_p.P449P|CEP78_ENST00000376598.2_Silent_p.P449P			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	449					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.P449P(1)|p.P450P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ATGAAGTGCCTGAGAAAACTA	0.378000													3	80					0	0	0.150653	0	0
OSBPL6	114880	broad.mit.edu	37	2	179259071	179259071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179259071G>T	ENST00000190611.4	+	24	2981	c.2605G>T	c.(2605-2607)Gca>Tca	p.A869S	OSBPL6_ENST00000409045.3_Missense_Mutation_p.A838S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.A833S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.A833S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A894S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.A873S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	869					lipid transport		lipid binding	p.A894S(2)|p.A869S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGAAGCTGCAGCATCAGAGAA	0.348000													59	171					2.72187e-29	4.37356e-29	0.870114	1	0
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	C	A	rs142051051	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:57876663C>A	ENST00000311585.7	+	2	621	c.251C>A	c.(250-252)gCg>gAg	p.A84E	EDN3_ENST00000371028.2_Missense_Mutation_p.A84E|EDN3_ENST00000337938.2_Missense_Mutation_p.A84E|EDN3_ENST00000395654.3_Missense_Mutation_p.A84E|EDN3_ENST00000371025.3_Missense_Mutation_p.A84E	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	84					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662000													7	19					8.12818e-05	8.94596e-05	0.248553	1	0
NUPL1	9818	broad.mit.edu	37	13	25881957	25881957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:25881957G>T	ENST00000463407.1	+	2	264	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	NUPL1_ENST00000381736.3_Missense_Mutation_p.G41W|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.G41W			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	41	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.G41W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCCTTCTGTGGGGCTCAATTT	0.378000													12	51					9.05144e-12	1.14786e-11	0.435327	1	0
IFNA2	3440	broad.mit.edu	37	9	21384955	21384955	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:21384955C>A	ENST00000380206.2	-	1	441	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	125					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G125V(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CACCCCCACCCCCTGTATCAC	0.483000													16	233					3.41278e-10	4.18104e-10	0.520397	1	0
CADPS	8618	broad.mit.edu	37	3	62636588	62636588	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:62636588G>C	ENST00000383710.4	-	5	1486	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	CADPS_ENST00000357948.3_Missense_Mutation_p.I379M|CADPS_ENST00000283269.9_Missense_Mutation_p.I379M|CADPS_ENST00000490353.2_Missense_Mutation_p.I379M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	379					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I379M(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCCCATGTCGATGATGGAAG	0.522000													38	157					0	0	0.840704	0	0
ADAM12	8038	broad.mit.edu	37	10	127753557	127753557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:127753557C>A	ENST00000368679.4	-	14	1745	c.1436G>T	c.(1435-1437)gGa>gTa	p.G479V	ADAM12_ENST00000368676.4_Missense_Mutation_p.G479V|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	479	Disintegrin.		G -> E (in a breast cancer sample; somatic mutation).		cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.G479V(6)|p.G479E(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCACGCTGTTCCTGCAGGCTT	0.607000													9	25					0.000673444	0.000723551	0.361761	1	0
OR2M7	391196	broad.mit.edu	37	1	248487866	248487866	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248487866G>T	ENST00000317965.2	-	1	33	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2E(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCTCCCATGCCATGATGAA	0.428000													107	536					9.84861e-36	1.64854e-35	0.870114	1	0
RAB3C	115827	broad.mit.edu	37	5	58120870	58120870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:58120870C>A	ENST00000282878.4	+	4	546	c.377C>A	c.(376-378)aCt>aAt	p.T126N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	126					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.T126N(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGTCAACTCAAATCAAA	0.418000													68	405					1.7458e-18	2.49434e-18	0.870114	1	0
IGSF5	150084	broad.mit.edu	37	21	41137527	41137527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:41137527G>T	ENST00000380588.4	+	3	269	c.166G>T	c.(166-168)Gct>Tct	p.A56S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	56	Ig-like V-type 1.					integral to membrane|tight junction		p.A56S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGGCTCCCAGGCTCGCTTCAA	0.527000													65	138					1.25089e-41	2.16754e-41	0.870114	1	0
TARSL2	123283	broad.mit.edu	37	15	102197168	102197168	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:102197168C>T	ENST00000335968.3	-	18	2433	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	739					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.K739K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGTATTTTCTTATTTAGTG	0.313000													10	24					0	0	0.435327	0	0
CD163	9332	broad.mit.edu	37	12	7636092	7636092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:7636092C>A	ENST00000359156.4	-	12	3161	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	CD163_ENST00000432237.2_Missense_Mutation_p.G987W|CD163_ENST00000396620.3_Missense_Mutation_p.G1020W|CD163_ENST00000541972.1_Missense_Mutation_p.G975W|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGTCCAGTCCCCTGACCAAAC	0.517000													49	148					2.47907e-22	3.7186e-22	0.870114	1	0
FRAS1	80144	broad.mit.edu	37	4	79367972	79367972	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:79367972T>A	ENST00000264895.6	+	43	6388	c.5948T>A	c.(5947-5949)cTg>cAg	p.L1983Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1982					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L1983Q(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTTTGAGCCTGCAAGACCTG	0.478000													5	48					0	0	0.184627	0	0
CALHM2	51063	broad.mit.edu	37	10	105209690	105209690	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:105209690G>T	ENST00000393235.1	-	3	1206	c.9C>A	c.(7-9)gcC>gcA	p.A3A	CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000260743.5_Silent_p.A3A|CALHM2_ENST00000369788.3_Silent_p.A3A			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	3						integral to membrane		p.A3A(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGCGATCAGGGCTGCCATGG	0.587000													19	30					6.32553e-13	8.22395e-13	0.681144	1	0
RASGRF2	5924	broad.mit.edu	37	5	80408586	80408586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:80408586C>A	ENST00000265080.4	+	14	2063	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	666	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L666M(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAACACCTTTCTGCACACCTA	0.512000													224	746					5.16896e-63	9.87299e-63	0.870114	1	0
SHPRH	257218	broad.mit.edu	37	6	146262871	146262871	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:146262871C>G	ENST00000367503.3	-	10	2776	c.2378G>C	c.(2377-2379)cGt>cCt	p.R793P	SHPRH_ENST00000367505.2_Missense_Mutation_p.R793P|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793P|SHPRH_ENST00000275233.7_Missense_Mutation_p.R793P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R793P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCGTAGGCGACGCCCATCCTC	0.468000													25	69					0	0	0.693898	0	0
NNMT	4837	broad.mit.edu	37	11	114182861	114182861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:114182861C>T	ENST00000535401.1	+	5	721	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P153S|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	153					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGGGCCGTCCCCTTACCCCC	0.622000													6	115					0	0	0.248553	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449458	124449458	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:124449458G>T	ENST00000523984.1	+	5	440	c.212G>T	c.(211-213)aGa>aTa	p.R71I	WDYHV1_ENST00000523356.1_Missense_Mutation_p.R131I|WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000287387.2_Missense_Mutation_p.R131I|WDYHV1_ENST00000517609.1_3'UTR			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	131					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.R131I(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AGGAAATTTAGAGTGATCCGT	0.408000													12	104					6.72482e-11	8.37125e-11	0.479597	1	0
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:10930655C>A	ENST00000283141.6	+	19	1837	c.1541C>A	c.(1540-1542)aCc>aAc	p.T514N	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358000													10	119					1.76689e-08	2.09359e-08	0.335167	1	0
ZP1	22917	broad.mit.edu	37	11	60636728	60636728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:60636728G>T	ENST00000278853.5	+	2	307	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	103					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V103L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGCCACGTGCTGGAGAA	0.572000													4	17					0.00116845	0.00124305	0.217242	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407714	105407714	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:105407714C>T	ENST00000333244.5	-	7	14193	c.14074G>A	c.(14074-14076)Gaa>Aaa	p.E4692K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4692						nucleus		p.E4692K(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTCCAACTTCTCCAACAGCA	0.413000													4	16					0	0	0.184627	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628585	20628585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:20628585G>T	ENST00000525748.1	+	4	985	c.712G>T	c.(712-714)Gct>Tct	p.A238S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	238					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A238S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATGATGCTGGCTCTGGCTGG	0.567000													41	66					8.30282e-39	1.42053e-38	0.870114	1	0
KIF27	55582	broad.mit.edu	37	9	86506225	86506225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:86506225T>A	ENST00000297814.2	-	6	1937	c.1794A>T	c.(1792-1794)agA>agT	p.R598S	KIF27_ENST00000334204.2_Missense_Mutation_p.R598S|KIF27_ENST00000413982.1_Missense_Mutation_p.R598S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	598					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R598S(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGGAATCTTGTCTTGATGGGA	0.358000													22	163					0	0	0.681144	0	0
FHDC1	85462	broad.mit.edu	37	4	153889217	153889217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:153889217G>A	ENST00000511601.1	+	10	1374	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E396K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	396	FH2.				actin cytoskeleton organization		actin binding	p.E396K(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGGGATGGTGAACTTTGTCA	0.453000													29	93					0	0	0.740014	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336927	162336927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:162336927G>T	ENST00000493151.1	+	2	2673	c.306G>T	c.(304-306)gaG>gaT	p.E102D	NOS1AP_ENST00000361897.5_Missense_Mutation_p.E397D|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E392D|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E83D	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	397	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.E397D(4)|p.E102D(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTAAGCCAGAGGACCTGCATT	0.667000													22	96					9.57634e-11	1.18799e-10	0.654019	1	0
RFC3	5983	broad.mit.edu	37	13	34404943	34404943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:34404943A>T	ENST00000380071.3	+	6	791	c.661A>T	c.(661-663)Aga>Tga	p.R221*	RFC3_ENST00000434425.1_Nonsense_Mutation_p.R221*	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.R221*(4)		lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAAGTCTTGTAGAAATCTCAG	0.433000													23	125					0	0	0.750413	0	0
IGLON5	402665	broad.mit.edu	37	19	51828677	51828677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51828677G>T	ENST00000270642.8	+	4	469	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	157	Ig-like C2-type 2.					extracellular region		p.V157L(2)		large_intestine(5)|lung(6)|prostate(1)	12						TTGCCTGGCCGTGGGGCGGCC	0.667000													11	20					6.72482e-11	8.37125e-11	0.479597	1	0
CSMD3	114788	broad.mit.edu	37	8	113569119	113569119	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113569119T>A	ENST00000297405.5	-	25	4351	c.4107A>T	c.(4105-4107)caA>caT	p.Q1369H	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q1369H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q1329H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q1265H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7.					integral to membrane|plasma membrane		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAGTGGCCTTGGTCACTGA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			63	139					0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75097613	75097613	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:75097613C>G	ENST00000326665.5	-	7	822		c.e7-1		C1orf173_ENST00000420661.2_Splice_Site	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173									p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTGCCCTGTAATCATA	0.368000													21	407					0	0	0.639603	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596192	24596192	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:24596192G>C	ENST00000535378.1	-	4	1325	c.683C>G	c.(682-684)cCc>cGc	p.P228R	KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.P237R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCGGCAAGGGAAGCAACAC	0.547000													5	132					0	0	0.217242	0	0
IFT80	57560	broad.mit.edu	37	3	159998598	159998598	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:159998598T>A	ENST00000326448.7	-	15	1953	c.1521A>T	c.(1519-1521)acA>acT	p.T507T	RP11-432B6.3_ENST00000483754.1_Silent_p.T678T|IFT80_ENST00000483465.1_Silent_p.T370T|IFT80_ENST00000496589.1_Silent_p.T370T	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	507						cilium axoneme|microtubule basal body		p.T507T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATGCACCATTGTTCCTTAAT	0.313000													19	37					0	0	0.608945	0	0
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:37026967G>C	ENST00000358047.3	+	1	536	c.484G>C	c.(484-486)Gca>Cca	p.A162P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTGGAGGACGCAGGCTCTTG	0.582000													22	16					0	0	0.639603	0	0
FAM171B	165215	broad.mit.edu	37	2	187626258	187626258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:187626258G>T	ENST00000304698.5	+	8	1392	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	397						integral to membrane	DNA binding	p.V397F(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAACTTGAGGTCCTCAAGAG	0.358000													89	265					1.2136e-71	2.36816e-71	0.870114	1	0
KIAA0020	9933	broad.mit.edu	37	9	2820099	2820099	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:2820099C>A	ENST00000397885.2	-	13	1395		c.e13-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum|nucleolus	RNA binding	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGTATTGGCCCTGCAAGAATT	0.403000													10	97					2.31682e-05	2.57346e-05	0.479597	1	0
SAMHD1	25939	broad.mit.edu	37	20	35540928	35540928	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:35540928G>A	ENST00000262878.4	-	10	1289	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.H149Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	364					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.H364Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGCGAGTGTGGAACATGTCA	0.328000													39	113					0	0	0.870114	0	0
GPR141	353345	broad.mit.edu	37	7	37780650	37780650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:37780650C>A	ENST00000447769.1	+	4	944	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GPR141_ENST00000334425.1_Missense_Mutation_p.Q219K|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	219						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q219K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTATCCCACCAGGAGTTCTG	0.418000													123	549					9.13576e-48	1.6408e-47	0.870114	1	0
KIAA0930	23313	broad.mit.edu	37	22	45598869	45598869	+	Splice_Site	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:45598869A>C	ENST00000336156.4	-	7	918		c.e7+1		KIAA0930_ENST00000251993.7_Splice_Site|KIAA0930_ENST00000391627.2_Splice_Site|KIAA0930_ENST00000443310.3_Splice_Site	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding	p.?(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCAGCCCTTACCCGCTCGTG	0.652000													12	12					0	0	0.435327	0	0
MYO1G	64005	broad.mit.edu	37	7	45011815	45011815	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:45011815C>G	ENST00000258787.7	-	6	764	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	210	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.G210R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTCACTGCCTCTCAGCAAC	0.507000													8	21					0	0	0.335167	0	0
RAB15	376267	broad.mit.edu	37	14	65417768	65417768	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:65417768C>T	ENST00000267512.5	-	4	428	c.348G>A	c.(346-348)ccG>ccA	p.P116P	RAB15_ENST00000436278.2_Silent_p.P70P|RAB15_ENST00000533601.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000426039.3_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	NM_198686.2	NP_941959.1	P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.P116P(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CTCCACACCCCGGCAGTGAGG	0.562000													3	54					0	0	0.115264	0	0
CHPF	79586	broad.mit.edu	37	2	220404338	220404338	+	Missense_Mutation	SNP	C	C	G	rs149014949		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:220404338C>G	ENST00000243776.6	-	4	2343	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	CHPF_ENST00000535926.1_Missense_Mutation_p.E537Q	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	699						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.E699Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCAGCTCCTCTTCTTGTTCT	0.647000													4	51					0	0	0.278610	0	0
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:141734530G>T	ENST00000475668.2	+	16	1902	c.1848G>T	c.(1846-1848)gcG>gcT	p.A616A	MGAM_ENST00000549489.2_Silent_p.A616A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	616	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A616A(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCTTTGCGGGCTCTGGCA	0.498000													22	181					1.42536e-11	1.79704e-11	0.681144	1	0
LIPK	643414	broad.mit.edu	37	10	90499787	90499787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:90499787C>T	ENST00000404190.1	+	7	851	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	284					lipid catabolic process	extracellular region	hydrolase activity	p.A284V(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACAATCCTGCGGGAACATCT	0.423000													78	182					0	0	0.870114	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55064991	55064991	+	RNA	SNP	G	G	T	rs115145648	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:55064991G>T	ENST00000526016.1	-	0	434					NR_038174.2																						CCATGTTCAGGTTTCTGAGAT	0.403000													4	139					0.0293803	0.0300462	0.248553	1	0
ADAM20	8748	broad.mit.edu	37	14	70991190	70991190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:70991190C>A	ENST00000256389.3	-	2	679	c.435G>T	c.(433-435)caG>caT	p.Q145H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	95					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q145H(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAGGGCATGCTGCTCTGTGT	0.522000													84	461					5.70515e-31	9.30523e-31	0.870114	1	0
KLHL20	27252	broad.mit.edu	37	1	173735426	173735426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:173735426G>T	ENST00000209884.4	+	8	1429	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E242D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	431					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.E431D(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTGTTGAGAGGTGATCTT	0.428000													151	353					2.18101e-91	4.32607e-91	0.870114	1	0
MGAM	8972	broad.mit.edu	37	7	141755465	141755465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:141755465C>A	ENST00000475668.2	+	28	3476	c.3422C>A	c.(3421-3423)tCc>tAc	p.S1141Y	MGAM_ENST00000549489.2_Missense_Mutation_p.S1141Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1141	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1141Y(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCACAGGTCCTATAGGAGA	0.542000													41	93					4.86159e-25	7.55395e-25	0.870114	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73165952	73165952	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:73165952A>T	ENST00000545377.1	+	21	2660	c.2484A>T	c.(2482-2484)gcA>gcT	p.A828A	ARHGEF28_ENST00000296799.4_Silent_p.A515A|ARHGEF28_ENST00000287898.5_Silent_p.A828A|ARHGEF28_ENST00000296794.6_Silent_p.A828A|ARHGEF28_ENST00000426542.2_Silent_p.A828A|ARHGEF28_ENST00000513042.2_Silent_p.A828A|ARHGEF28_ENST00000437974.1_Silent_p.A828A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A828A(4)									AGTTTGAAGCAGAATCTTGGA	0.408000													94	309					0	0	0.870114	0	0
OR51D1	390038	broad.mit.edu	37	11	4661635	4661635	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:4661635C>G	ENST00000357605.2	+	1	691	c.615C>G	c.(613-615)acC>acG	p.T205T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T205T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTGACACCAGGGTCAATG	0.468000													220	506					0	0	0.870114	0	0
MYH14	79784	broad.mit.edu	37	19	50779265	50779265	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:50779265G>C	ENST00000440075.2	+	28	3532	c.3485G>C	c.(3484-3486)gGg>gCg	p.G1162A	MYH14_ENST00000596571.1_Missense_Mutation_p.G1121A|MYH14_ENST00000425460.1_Missense_Mutation_p.G1129A|MYH14_ENST00000598205.1_Missense_Mutation_p.G1129A|MYH14_ENST00000601313.1_Missense_Mutation_p.G1162A|MYH14_ENST00000262269.8_Missense_Mutation_p.G1162A|MYH14_ENST00000376970.2_Missense_Mutation_p.G1154A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1121					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G1121A(2)|p.G1162A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGAGGGTGGGGCCCGGGCC	0.647000													3	14					0	0	0.115264	0	0
MGAM	8972	broad.mit.edu	37	7	141765177	141765177	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:141765177C>A	ENST00000475668.2	+	38	4581	c.4527C>A	c.(4525-4527)acC>acA	p.T1509T	MGAM_ENST00000549489.2_Silent_p.T1509T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1509	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.T1509T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGTCATCACCCGCTCCACAT	0.597000													15	14					1.02788e-11	1.30046e-11	0.520397	1	0
STK31	56164	broad.mit.edu	37	7	23826529	23826529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:23826529C>A	ENST00000354639.3	+	20	2868	c.2404C>A	c.(2404-2406)Cct>Act	p.P802T	STK31_ENST00000433467.2_Missense_Mutation_p.P825T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.P825T|STK31_ENST00000428484.1_Missense_Mutation_p.P802T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.P825T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCAACATGCCTTTAAATTC	0.368000													63	521					4.59617e-45	8.16008e-45	0.870114	1	0
VWF	7450	broad.mit.edu	37	12	6135206	6135206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:6135206C>A	ENST00000261405.5	-	23	3228	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	992	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.V992L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCACACACTTTCTCCTTG	0.557000													34	196					3.61848e-18	5.15633e-18	0.834066	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045525	142045525	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142045525C>A	ENST00000390392.3	+	0	164																											CCCGCAGTCCCCATGGAAACG	0.478000													28	375					1.39806e-14	1.85324e-14	0.729181	1	0
CFHR5	81494	broad.mit.edu	37	1	196967432	196967432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:196967432C>A	ENST00000367414.5	+	7	1273	c.1217C>A	c.(1216-1218)aCa>aAa	p.T406K	CFHR5_ENST00000256785.4_Missense_Mutation_p.T382K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	382	Sushi 7.				complement activation, alternative pathway	extracellular region		p.T382K(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAGACTGCACAGGTAAGATT	0.294000													13	68					3.45872e-05	3.83397e-05	0.500413	1	0
GAK	2580	broad.mit.edu	37	4	905514	905514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:905514T>A	ENST00000314167.4	-	4	439	c.329A>T	c.(328-330)gAg>gTg	p.E110V	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	110	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.E110V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTCTGACTCCTCTTTTCCTAT	0.507000													5	32					0	0	0.278610	0	0
ENAH	55740	broad.mit.edu	37	1	225699552	225699552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:225699552C>A	ENST00000366844.2	-	10	1883	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	ENAH_ENST00000284563.6_Nonsense_Mutation_p.E725*|ENAH_ENST00000366843.2_Nonsense_Mutation_p.E478*	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	478	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	p.E478*(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTACAGGCTCTGAATCTTCC	0.313000													10	28					0.0202918	0.0209295	0.457914	1	0
CNTN2	6900	broad.mit.edu	37	1	205042265	205042265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:205042265C>A	ENST00000331830.4	+	22	3198	c.2914C>A	c.(2914-2916)Cca>Aca	p.P972T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	972	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P972T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATAGAAATCCCAGTGCCTGA	0.557000													15	85					1.49906e-05	1.67369e-05	0.457914	1	0
SPEG	10290	broad.mit.edu	37	2	220353298	220353298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:220353298G>T	ENST00000312358.7	+	33	8069	c.7937G>T	c.(7936-7938)cGg>cTg	p.R2646L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2646	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2646L(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCATCCCCCGGGCGGGCAAG	0.642000													4	13					1.024e-07	1.19375e-07	0.184627	1	0
TMEM176A	55365	broad.mit.edu	37	7	150500824	150500824	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:150500824C>T	ENST00000484928.1	+	5	1040	c.459C>T	c.(457-459)atC>atT	p.I153I	TMEM176A_ENST00000461345.1_Silent_p.I94I|TMEM176A_ENST00000004103.3_Silent_p.I153I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	153						integral to membrane		p.I153I(2)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCGCATCTCCAGCTCGA	0.512000													26	55					0	0	0.729181	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775904	77775904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:77775904G>C	ENST00000521891.2	+	11	10402	c.9954G>C	c.(9952-9954)caG>caC	p.Q3318H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3292H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3273H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3269H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3269						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q3302H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTTgcagcagtaccaacagt	0.527000										HNSCC(33;0.089)			12	23					0	0	0.387290	0	0
PTH2R	5746	broad.mit.edu	37	2	209302554	209302554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:209302554C>A	ENST00000272847.2	+	4	572	c.359C>A	c.(358-360)gCc>gAc	p.A120D	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	120						integral to plasma membrane	parathyroid hormone receptor activity	p.A120D(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AAAACATGGGCCAATTATTCA	0.403000													12	176					1.99824e-07	2.3195e-07	0.520397	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811061	69811061	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:69811061C>T	ENST00000251566.4	-	2	857	c.827G>A	c.(826-828)gGa>gAa	p.G276E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	276						integral to membrane	glucuronosyltransferase activity	p.G276E(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAATCCTCCAACAAACTC	0.368000													46	210					0	0	0.870114	0	0
COL11A1	1301	broad.mit.edu	37	1	103347308	103347308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:103347308G>T	ENST00000358392.2	-	65	5338	c.5021C>A	c.(5020-5022)tCa>tAa	p.S1674*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.S1623*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.S1546*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.S1662*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1662	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.S1674*(1)|p.S1662*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTGGCCATGATGAAATTCT	0.318000													10	86					9.31168e-06	1.04829e-05	0.435327	1	0
ZNF592	9640	broad.mit.edu	37	15	85326477	85326477	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:85326477G>C	ENST00000299927.3	+	1	593	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	ZNF592_ENST00000560079.2_Missense_Mutation_p.V191L			Q92610	ZN592_HUMAN	zinc finger protein 592	191					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAGTTTCCGGTTCCAGAGCT	0.537000													29	89					0	0	0.729181	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872401	125872401	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:125872401C>G	ENST00000393434.2	-	7	1093	c.744G>C	c.(742-744)acG>acC	p.T248T	ALDH1L1_ENST00000393431.2_Silent_p.T248T|ALDH1L1_ENST00000455064.2_Silent_p.T73T|ALDH1L1_ENST00000472186.1_Silent_p.T248T|ALDH1L1_ENST00000273450.3_Silent_p.T258T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Silent_p.T147T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	248					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.T248T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGTGTTCAGCGTTGAGTTGA	0.562000													13	70					0	0	0.479597	0	0
ABCA9	10350	broad.mit.edu	37	17	67039769	67039769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:67039769C>A	ENST00000340001.4	-	6	872	c.661G>T	c.(661-663)Gtt>Ttt	p.V221F	ABCA9_ENST00000370732.2_Missense_Mutation_p.V221F|ABCA9_ENST00000453985.2_Missense_Mutation_p.V221F|ABCA9_ENST00000495634.1_Missense_Mutation_p.V221F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	221					transport	integral to membrane	ATP binding|ATPase activity	p.V221F(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCAGTTGCAACTCCTCCTTGG	0.328000													31	227					2.1956e-27	3.45615e-27	0.796494	1	0
CPEB1	64506	broad.mit.edu	37	15	83215961	83215961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:83215961G>A	ENST00000563800.1	-	10	3232	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*	CPEB1_ENST00000398591.2_Nonsense_Mutation_p.Q406*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.Q250*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.Q479*|RP11-152F13.10_ENST00000562833.1_Silent_p.T210T|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000568757.1_Nonsense_Mutation_p.Q401*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.Q476*|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.Q481*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	481	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.Q406*(2)|p.Q476*(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAACTCCGTTGGTTATTGAAA	0.413000													25	92					0	0	0.717897	0	0
SOAT2	8435	broad.mit.edu	37	12	53515143	53515143	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:53515143C>T	ENST00000301466.3	+	12	1254	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	398					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.V398V(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACGTGGTGGTCCATGACTGGC	0.567000													8	140					0	0	0.361761	0	0
FCGBP	8857	broad.mit.edu	37	19	40433455	40433455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:40433455G>T	ENST00000221347.6	-	2	821	c.814C>A	c.(814-816)Cag>Aag	p.Q272K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	272	IgGFc-binding.					extracellular region	protein binding	p.Q272K(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTGTGGCCTGGCTGGCCACA	0.602000													13	49					3.45872e-05	3.83397e-05	0.500413	1	0
GBP1	2633	broad.mit.edu	37	1	89523812	89523812	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:89523812T>G	ENST00000370473.4	-	6	956	c.737A>C	c.(736-738)aAg>aCg	p.K246T		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	246					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.K246T(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTGGGCAAGCTTCCTGCGGTG	0.433000													8	233					0	0	0.411799	0	0
PAXIP1	22976	broad.mit.edu	37	7	154775016	154775016	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:154775016C>A	ENST00000404141.1	-	5	505	c.351G>T	c.(349-351)ctG>ctT	p.L117L	PAXIP1_ENST00000397192.1_Silent_p.L117L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	117	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.L83L(2)|p.L117L(2)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCAAAGCCCACAGGGCACTTC	0.423000													4	77					2.0095e-06	2.28601e-06	0.248553	1	0
ZAN	7455	broad.mit.edu	37	7	100382441	100382441	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:100382441T>C	ENST00000542585.1	+	0	6964				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.H2272H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGATGCCCATGGTGGCTCCA	0.582000													5	52					0	0	0.248553	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604640	108604640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:108604640C>A	ENST00000264047.2	+	2	305	c.29C>A	c.(28-30)gCt>gAt	p.A10D	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A10D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	10					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.A10D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGACTGATAGCTATCATCGTG	0.443000													49	162					7.91745e-34	1.3111e-33	0.870114	1	0
OR10S1	219873	broad.mit.edu	37	11	123848123	123848123	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:123848123G>T	ENST00000531945.1	-	1	365	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATGACCTTGGGCACTGTCA	0.547000													16	275					3.62473e-10	4.43068e-10	0.608945	1	0
ZNF419	79744	broad.mit.edu	37	19	58005013	58005013	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:58005013G>A	ENST00000424930.2	+	5	1320	c.1091G>A	c.(1090-1092)cGt>cAt	p.R364H	ZNF419_ENST00000221735.7_Missense_Mutation_p.R363H|ZNF419_ENST00000442920.2_Missense_Mutation_p.R350H|ZNF419_ENST00000426954.2_Missense_Mutation_p.R351H|ZNF419_ENST00000354197.4_Missense_Mutation_p.R351H|ZNF419_ENST00000415379.2_Missense_Mutation_p.R317H|ZNF419_ENST00000347466.6_Missense_Mutation_p.R331H|AC003005.4_ENST00000601674.1_Intron	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R331H(1)|p.R338H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAACATTGGCGTGTTCATACT	0.413000													4	105					0	0	0.150653	0	0
CHST13	166012	broad.mit.edu	37	3	126255153	126255153	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:126255153G>C	ENST00000319340.2	+	2	187	c.137G>C	c.(136-138)gGg>gCg	p.G46A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	46					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.G46A(2)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGGCTTGGTGGGGAGAAGAGA	0.607000													7	29					0	0	0.435327	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5319167	5319167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:5319167C>A	ENST00000274181.7	+	23	3729	c.3591C>A	c.(3589-3591)tgC>tgA	p.C1197*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1197	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1197*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCACTGGTGCTACCTGGTAC	0.532000													41	99					3.54909e-21	5.22947e-21	0.859065	1	0
UMODL1	89766	broad.mit.edu	37	21	43524089	43524089	+	Missense_Mutation	SNP	G	G	T	rs150059583		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:43524089G>T	ENST00000400427.1	+	9	1591	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	UMODL1_ENST00000400424.1_Missense_Mutation_p.V399L|UMODL1_ENST00000408910.2_Missense_Mutation_p.V471L|C21orf128_ENST00000329015.2_Missense_Mutation_p.H48Q|UMODL1_ENST00000408989.2_Missense_Mutation_p.V471L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	471	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.H48Q(4)|p.V399L(2)|p.V471L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGCTCACCGTGCAGGACCC	0.607000													17	71					7.21436e-19	1.03349e-18	0.575678	1	0
HSPH1	10808	broad.mit.edu	37	13	31713001	31713001	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:31713001C>T	ENST00000320027.5	-	16	2469	c.2125G>A	c.(2125-2127)Gct>Act	p.A709T	HSPH1_ENST00000429785.2_Missense_Mutation_p.A528T|HSPH1_ENST00000445273.2_Missense_Mutation_p.A711T|HSPH1_ENST00000380406.5_Missense_Mutation_p.A668T|HSPH1_ENST00000380405.4_Missense_Mutation_p.A665T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	709					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.A709T(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGTTCTTCAGCTTCCTGAAAC	0.328000													17	139					0	0	0.608945	0	0
PLXND1	23129	broad.mit.edu	37	3	129279567	129279567	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:129279567C>G	ENST00000393239.1	-	30	5172		c.e30-1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(2)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AAGTCTTTCACTGTGAGAGGA	0.483000													6	15					0	0	0.278610	0	0
UNC5B	219699	broad.mit.edu	37	10	73047403	73047403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:73047403G>T	ENST00000335350.6	+	6	1198	c.782G>T	c.(781-783)cGc>cTc	p.R261L	UNC5B_ENST00000373192.4_Missense_Mutation_p.R261L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	261	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.R261L(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCTCCAACCGCTGTGGCCGA	0.667000													9	35					5.4927e-09	6.58759e-09	0.307466	1	0
MXRA5	25878	broad.mit.edu	37	X	3241316	3241316	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:3241316A>C	ENST00000217939.6	-	5	2564	c.2410T>G	c.(2410-2412)Ttg>Gtg	p.L804V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	804						extracellular region		p.L804V(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTTAATCAATGGGGGTACT	0.473000													10	242					0	0	0.411799	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306857	126306857	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:126306857G>A	ENST00000525144.2	-	12	1650	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	KIRREL3_ENST00000529097.2_Silent_p.R467R|KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000525704.2_Silent_p.R467R	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	467	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R467R(4)|p.R426R(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCACCGTATAGCGCCCCGATG	0.642000													6	17					0	0	0.248553	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719903	52719903	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:52719903A>T	ENST00000322088.6	+	9	1173	c.1115A>T	c.(1114-1116)cAg>cTg	p.Q372L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q317L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q193L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	372	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.Q372L(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCCTGGCTCAGCTGAAGGAT	0.552000			Mis		clear cell ovarian carcinoma								28	77					0	0	0.779181	0	0
CALU	813	broad.mit.edu	37	7	128394426	128394426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:128394426G>T	ENST00000535623.1	+	4	1299	c.356G>T	c.(355-357)cGa>cTa	p.R119L	CALU_ENST00000249364.4_Missense_Mutation_p.R111L|CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.R111L|CALU_ENST00000449187.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.R119L	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	111	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	p.R111L(2)		kidney(2)|large_intestine(3)|lung(5)	10						GATGTAGAGCGACAGTGGAAG	0.483000													33	84					1.57351e-24	2.43098e-24	0.788014	1	0
ZNF285	26974	broad.mit.edu	37	19	44891467	44891467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:44891467T>A	ENST00000330997.4	-	4	1004	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K314*|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K321*	NM_152354.3	NP_689567.3			zinc finger protein 285									p.K314*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGTAGGGTTTGTCTCCTGAG	0.502000													17	132					0	0	0.592651	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644305	45644305	+	RNA	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:45644305T>G	ENST00000427229.2	+	0	476																											TTTGAAGATTTTTACCTAGAA	0.348000													28	66					0	0	0.804634	0	0
TPO	7173	broad.mit.edu	37	2	1544403	1544403	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:1544403G>A	ENST00000345913.4	+	16	2747	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.E842K|TPO_ENST00000329066.4_Missense_Mutation_p.E886K|TPO_ENST00000382198.1_Missense_Mutation_p.E713K|TPO_ENST00000337415.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E713K|TPO_ENST00000382201.3_Missense_Mutation_p.E829K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	886					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E886K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCATCTCGGAGACAGGCGG	0.642000													10	55					0	0	0.387290	0	0
LETMD1	25875	broad.mit.edu	37	12	51442900	51442900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:51442900G>T	ENST00000418425.2	+	2	225	c.206G>T	c.(205-207)gGg>gTg	p.G69V	LETMD1_ENST00000550929.1_Missense_Mutation_p.G13V|LETMD1_ENST00000262055.4_Missense_Mutation_p.G69V|LETMD1_ENST00000547008.1_Missense_Mutation_p.G69V|LETMD1_ENST00000380123.2_Missense_Mutation_p.G69V|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	69	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding	p.G69V(2)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCGATTAATGGGAAATACCAT	0.398000													41	64					4.17328e-34	6.92139e-34	0.870114	1	0
MAML2	84441	broad.mit.edu	37	11	95713012	95713012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:95713012C>T	ENST00000524717.1	-	5	3855	c.2571G>A	c.(2569-2571)atG>atA	p.M857I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	857					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.M857I(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATAATGATGGCATTCTTGTCC	0.413000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								14	212					0	0	0.500413	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036447	33036447	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:33036447G>A	ENST00000419277.1	-	5	892	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.R255W	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	255					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.R255W(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCCTGGGCCCGGGGGTCATGG	0.542000													6	56					0	0	0.278610	0	0
RICTOR	253260	broad.mit.edu	37	5	38947422	38947422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:38947422C>A	ENST00000357387.3	-	32	4288	c.4258G>T	c.(4258-4260)Ggt>Tgt	p.G1420C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1444C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1420					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G1420C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATCTGAACCCCCATATGTG	0.383000													64	434					3.56499e-28	5.67777e-28	0.870114	1	0
MCPH1	79648	broad.mit.edu	37	8	6338368	6338368	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:6338368C>T	ENST00000344683.5	+	11	2183	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	703	BRCT 2.					microtubule organizing center		p.R703C(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAATTGCGCGTGGCTGCTG	0.512000													15	100					0	0	0.539581	0	0
VWA5A	4013	broad.mit.edu	37	11	124007382	124007382	+	Splice_Site	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:124007382G>C	ENST00000456829.2	+	14	1876		c.e14+1		VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A									p.?(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGATGTCAAGTGAGAATTCA	0.488000													30	306					0	0	0.819951	0	0
EDA2R	60401	broad.mit.edu	37	X	65824892	65824892	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:65824892G>A	ENST00000374719.3	-	3	320	c.264C>T	c.(262-264)ccC>ccT	p.P88P	EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000456230.2_Silent_p.P88P|EDA2R_ENST00000450752.1_Silent_p.P88P|EDA2R_ENST00000396050.1_Silent_p.P88P|EDA2R_ENST00000253392.5_Silent_p.P88P	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	88					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.P88P(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCTCACCTGGGCAAACAGT	0.478000													19	28					0	0	0.575678	0	0
MNDA	4332	broad.mit.edu	37	1	158815548	158815548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:158815548C>A	ENST00000368141.4	+	5	1003	c.742C>A	c.(742-744)Cat>Aat	p.H248N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	248	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H248N(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAATATTTCCATGTGAAAGT	0.378000													51	149					1.40541e-12	1.81413e-12	0.870114	1	0
PHOX2B	8929	broad.mit.edu	37	4	41750491	41750491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:41750491G>T	ENST00000226382.2	-	1	496	c.137C>A	c.(136-138)cCg>cAg	p.P46Q	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	46					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.P46Q(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGTCCTTATCGGGTTATACTG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	52					0.00116845	0.00124305	0.217242	1	0
TSPAN33	340348	broad.mit.edu	37	7	128806740	128806740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:128806740C>A	ENST00000289407.4	+	6	690	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	194						integral to membrane		p.P194H(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGCCTACTCCTGACCAGGTG	0.557000													38	131					1.465e-08	1.73969e-08	0.840704	1	0
USO1	8615	broad.mit.edu	37	4	76703986	76703986	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:76703986T>A	ENST00000538159.1	+	9	836	c.836T>A	c.(835-837)gTg>gAg	p.V279E	USO1_ENST00000514213.2_Missense_Mutation_p.V262E			O60763	USO1_HUMAN	USO1 vesicle transport factor	277	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.V279E(1)|p.V205E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCACAGAAAGTGACCAATCTA	0.338000													5	130					0	0	0.248553	0	0
PRKCB	5579	broad.mit.edu	37	16	24046867	24046867	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:24046867C>A	ENST00000303531.7	+	5	680	c.529_splice	c.e5+1	p.L176_splice	PRKCB_ENST00000321728.7_Splice_Site_p.L176_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	176	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.L176L(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCATTGTCCTCGGTAGGTGGC	0.647000													29	129					9.65021e-13	1.24865e-12	0.750413	1	0
LRRC66	339977	broad.mit.edu	37	4	52860545	52860545	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:52860545T>G	ENST00000343457.3	-	4	2649	c.2643A>C	c.(2641-2643)taA>taC	p.*881Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	0						integral to membrane		p.*881Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGATTCTTATTTTAAAA	0.383000													12	159					0	0	0.411799	0	0
REG1P	5969	broad.mit.edu	37	2	79364020	79364020	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:79364020C>A	ENST00000444841.1	-	0	318																											AGCACAGACACCAGGTTACCT	0.517000													28	207					6.97489e-18	9.86136e-18	0.804634	1	0
EXT2	2132	broad.mit.edu	37	11	44228502	44228502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:44228502G>T	ENST00000395673.3	+	10	1810	c.1754G>T	c.(1753-1755)gGt>gTt	p.G585V	EXT2_ENST00000358681.4_Missense_Mutation_p.G562V|EXT2_ENST00000343631.3_Missense_Mutation_p.G552V|EXT2_ENST00000533608.1_Missense_Mutation_p.G552V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGCAATTTGGTTATGAGGTA	0.348000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				71	314					1.4648e-57	2.73044e-57	0.870114	1	0
IGHG1	3500	broad.mit.edu	37	14	106208131	106208131	+	RNA	SNP	C	C	G	rs1127807		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:106208131C>G	ENST00000390548.2	-	0	671																											CTCGGGGCTGCCCTGTAGGGA	0.647000													23	42					0	0	0.750413	0	0
GNAQ	2776	broad.mit.edu	37	9	80537207	80537207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:80537207C>A	ENST00000286548.4	-	2	413	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	64					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.G64V(2)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTATCCTGACCCATGGATGAT	0.483000			Mis		uveal melanoma								181	635					4.16634e-53	7.60901e-53	0.870114	1	0
AKAP6	9472	broad.mit.edu	37	14	33015542	33015542	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:33015542T>C	ENST00000280979.4	+	4	1853	c.1683T>C	c.(1681-1683)agT>agC	p.S561S	AKAP6_ENST00000557272.1_Silent_p.S561S|AKAP6_ENST00000557354.1_Silent_p.S561S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	561					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCAGAGAAGTTGGAATGCCA	0.458000													7	424					0	0	0.278610	0	0
GAS2	2620	broad.mit.edu	37	11	22707259	22707259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:22707259G>T	ENST00000454584.2	+	3	496	c.191G>T	c.(190-192)gGt>gTt	p.G64V	GAS2_ENST00000433790.1_Missense_Mutation_p.G64V|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Missense_Mutation_p.G64V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	64	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		p.G64V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTGGACAATGGTGCCTTGCTC	0.383000													25	149					1.2476e-16	1.73224e-16	0.706142	1	0
COL25A1	84570	broad.mit.edu	37	4	109861765	109861765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:109861765C>A	ENST00000399132.1	-	10	1132	c.602G>T	c.(601-603)gGc>gTc	p.G201V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G201V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G197V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	201	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G201V(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGAGGGCCAGGGGGTCC	0.562000													5	67					0.000157383	0.000172168	0.278610	1	0
PCDH17	27253	broad.mit.edu	37	13	58209184	58209184	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:58209184G>C	ENST00000377918.3	+	1	2530	c.2504G>C	c.(2503-2505)aGc>aCc	p.S835T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	835					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S835T(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCACACCAGCTTCACCGGA	0.577000													4	22					0	0	0.150653	0	0
CD109	135228	broad.mit.edu	37	6	74440084	74440084	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:74440084A>T	ENST00000437994.2	+	4	725	c.294A>T	c.(292-294)gcA>gcT	p.A98A	CD109_ENST00000287097.5_Silent_p.A98A|CD109_ENST00000422508.2_Intron	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	98						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A98A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACAGTGCAGATGAGATTT	0.373000													32	113					0	0	0.847076	0	0
DSG3	1830	broad.mit.edu	37	18	29046538	29046538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:29046538C>A	ENST00000257189.4	+	11	1540	c.1457C>A	c.(1456-1458)cCc>cAc	p.P486H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	486	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P486H(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAGAGTACCCGATTTCAAT	0.378000													15	231					2.94398e-08	3.46558e-08	0.557998	1	0
RHOJ	57381	broad.mit.edu	37	14	63671738	63671738	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:63671738G>A	ENST00000316754.3	+	1	613	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Missense_Mutation_p.V51M	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	51					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.V51M(3)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAGGAATACGTGCCCACTGT	0.557000													28	208					0	0	0.827153	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651332	1651332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:1651332G>T	ENST00000399676.2	+	1	300	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	88	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G88C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCAAAGGGGGCTGTGGCTC	0.662000													8	107					5.50884e-06	6.22763e-06	0.411799	1	0
NPY2R	4887	broad.mit.edu	37	4	156135962	156135962	+	Missense_Mutation	SNP	G	G	T	rs147783618		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:156135962G>T	ENST00000329476.3	+	2	1360	c.871G>T	c.(871-873)Gtt>Ttt	p.V291F	NPY2R_ENST00000506608.1_Missense_Mutation_p.V291F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	291					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.V291F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAGCTTGCCGTTGACATTGA	0.527000													14	85					9.05144e-12	1.14786e-11	0.435327	1	0
LCE4A	199834	broad.mit.edu	37	1	152681629	152681629	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152681629C>T	ENST00000368777.1	+	2	334	c.78C>T	c.(76-78)ccC>ccT	p.P26P	LCE4A_ENST00000335535.3_Silent_p.P26P			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	26	Cys-rich.				keratinization			p.P26P(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAAAATGTCCCTCAAAGTGTG	0.572000													49	305					0	0	0.870114	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202398051	202398051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:202398051G>T	ENST00000406302.3	+	6	1068	c.915G>T	c.(913-915)caG>caT	p.Q305H	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q305H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	305					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.Q305H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAAGAAGCAGAATGTGGTGA	0.453000													17	88					6.33239e-15	8.4771e-15	0.592651	1	0
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:12880890G>T	ENST00000155926.4	+	3	2421	c.1002G>T	c.(1000-1002)atG>atT	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512000													48	179					9.53978e-28	1.50606e-27	0.870114	1	0
TNRC6C	57690	broad.mit.edu	37	17	76047196	76047196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:76047196G>A	ENST00000335749.4	+	3	2622	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	TNRC6C_ENST00000588847.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V685M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V685M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	685	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.V685M(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCTTCTGTGAAACAGAC	0.552000													9	22					0	0	0.387290	0	0
GJB1	2705	broad.mit.edu	37	X	70443680	70443680	+	Missense_Mutation	SNP	G	G	T	rs116840816		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:70443680G>T	ENST00000374022.3	+	2	218	c.123G>T	c.(121-123)gaG>gaT	p.E41D	GJB1_ENST00000361726.6_Missense_Mutation_p.E41D|GJB1_ENST00000374029.1_Missense_Mutation_p.E41D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	41			E -> K (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	p.E41D(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTGCAGAGAGTGTGTGGG	0.532000													34	63					1.16512e-39	2.00608e-39	0.827153	1	0
DEPDC7	91614	broad.mit.edu	37	11	33054339	33054339	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:33054339G>A	ENST00000311388.3	+	7	1612	c.1236_splice	c.e7+1	p.K412_splice	DEPDC7_ENST00000241051.3_Splice_Site_p.K421_splice	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	421					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.K421K(2)|p.K412K(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ATGTTTTTAAGGTAAAATTGT	0.294000													18	88					0	0	0.654019	0	0
RIMS2	9699	broad.mit.edu	37	8	104943527	104943527	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:104943527A>G	ENST00000507740.1	+	9	1893	c.1657A>G	c.(1657-1659)Ata>Gta	p.I553V	RIMS2_ENST00000406091.3_Missense_Mutation_p.I761V|RIMS2_ENST00000262231.10_Missense_Mutation_p.I600V|RIMS2_ENST00000436393.2_Missense_Mutation_p.I539V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	823					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.I553V(4)|p.I828V(2)|p.I539V(2)|p.I761V(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACCAATTAATAGTTACAAT	0.338000										HNSCC(12;0.0054)			14	126					0	0	0.500413	0	0
C1QB	713	broad.mit.edu	37	1	22986096	22986096	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:22986096C>A	ENST00000509305.1	+	2	487	c.141C>A	c.(139-141)ccC>ccA	p.P47P	C1QB_ENST00000314933.6_Silent_p.P49P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	49	Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.P49P(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTGGCCCCGATGGCCAAC	0.602000													26	60					1.06801e-11	1.34966e-11	0.740014	1	0
LAMA2	3908	broad.mit.edu	37	6	129511367	129511367	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:129511367A>T	ENST00000421865.2	+	11	1534	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	495	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G495G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAAGGAGGAGACTGTAGTC	0.403000													38	125					0	0	0.870114	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530120	80530120	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:80530120C>A	ENST00000295057.3	-	2	1481	c.825G>T	c.(823-825)gtG>gtT	p.V275V	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.V275V|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	275						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V275V(4)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGTCTCGAACACATGGGGCT	0.582000										HNSCC(69;0.2)			8	28					0.00448238	0.00471761	0.307466	1	0
ARMC5	79798	broad.mit.edu	37	16	31471201	31471201	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:31471201C>T	ENST00000457010.2	+	1	1057	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ARMC5_ENST00000563544.1_Missense_Mutation_p.P119L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P214L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P119L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P151L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	119							binding	p.P214L(2)|p.P119L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGTCTAGTCCTACGCCGCCA	0.726000													7	20					0	0	0.278610	0	0
OR2M7	391196	broad.mit.edu	37	1	248487614	248487614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248487614A>T	ENST00000317965.2	-	1	285	c.257T>A	c.(256-258)tTg>tAg	p.L86*		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L86*(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCAGACAAGTAGTTGAA	0.493000													261	865					0	0	0.870114	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414155	38414155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:38414155C>A	ENST00000377694.1	-	2	528	c.506G>T	c.(505-507)gGg>gTg	p.G169V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	169	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding	p.G169V(2)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CACCTGCGCCCCGGTGACGTT	0.577000													15	76					4.35082e-09	5.22967e-09	0.592651	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:46032564G>T	ENST00000334662.2	+	1	569	c.547G>T	c.(547-549)Gct>Tct	p.A183S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A183S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGGGCTTCCTCTCT	0.632000													93	338					1.8585e-67	3.5942e-67	0.870114	1	0
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652000													5	11					0	0	0.248553	0	0
LIG4	3981	broad.mit.edu	37	13	108861585	108861585	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:108861585G>A	ENST00000356922.4	-	2	2304	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	LIG4_ENST00000405925.1_Silent_p.L678L|LIG4_ENST00000442234.1_Silent_p.L678L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	678	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.L678L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGTTCTCCAGGTCAGGCTTT	0.383000								Non-homologous end-joining					8	26					0	0	0.361761	0	0
DCHS2	54798	broad.mit.edu	37	4	155298498	155298498	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:155298498G>T	ENST00000357232.3	-	3	332	c.333C>A	c.(331-333)atC>atA	p.I111I	DCHS2_ENST00000339452.1_Silent_p.I717I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	111	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I111I(2)|p.I717I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGAGGGTCGATCCGGAATG	0.463000													179	561					3.24732e-118	6.51267e-118	0.870114	1	0
LRRC7	57554	broad.mit.edu	37	1	70504811	70504811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:70504811A>G	ENST00000310961.5	+	22	3623	c.3205A>G	c.(3205-3207)Aaa>Gaa	p.K1069E	LRRC7_ENST00000035383.5_Missense_Mutation_p.K1064E|LRRC7_ENST00000415775.2_Missense_Mutation_p.K348E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1064						centrosome|focal adhesion|nucleolus	protein binding	p.K1064E(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCAGCAAAAACATCGC	0.463000													20	54					0	0	0.592651	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936140	94936140	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94936140C>G	ENST00000337425.5	-	2	166	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.G13A|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G31A|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000546329.1_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	13					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.G31A(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGCACAGAGGCCAACAGCAAA	0.517000													255	843					0	0	0.870114	0	0
C9orf72	203228	broad.mit.edu	37	9	27556699	27556699	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:27556699C>T	ENST00000380003.3	-	8	1014	c.951G>A	c.(949-951)caG>caA	p.Q317Q	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	317								p.Q317Q(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AGGGTGGCATCTGCTTCACAG	0.473000													12	176					0	0	0.479597	0	0
VSNL1	7447	broad.mit.edu	37	2	17836616	17836616	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:17836616C>A	ENST00000406397.1	+	4	1056	c.531C>A	c.(529-531)agC>agA	p.S177R	VSNL1_ENST00000295156.4_Missense_Mutation_p.S177R|VSNL1_ENST00000404666.2_Missense_Mutation_p.S177R			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4.						calcium ion binding	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443000													35	318					6.07928e-31	9.90054e-31	0.847076	1	0
XIST	7503	broad.mit.edu	37	X	73066574	73066574	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:73066574G>T	ENST00000429829.1	-	0	6014					NR_001564.2																						ACACATATTGGGAGGCCAAGA	0.468000													5	60					0.014758	0.0152509	0.184627	1	0
CLCN4	1183	broad.mit.edu	37	X	10176257	10176257	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:10176257G>C	ENST00000380833.4	+	9	1407	c.1016G>C	c.(1015-1017)gGg>gCg	p.G339A	CLCN4_ENST00000421085.2_Missense_Mutation_p.G245A|CLCN4_ENST00000380829.1_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	339						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.G339A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCTGCTTGGGGTCTTCGGG	0.572000													9	245					0	0	0.479597	0	0
LTBP1	4052	broad.mit.edu	37	2	33359928	33359928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:33359928G>T	ENST00000404816.2	+	5	1455	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	LTBP1_ENST00000418533.2_Missense_Mutation_p.G42C|LTBP1_ENST00000390003.4_Missense_Mutation_p.G42C|LTBP1_ENST00000404525.1_Missense_Mutation_p.G42C|LTBP1_ENST00000354476.3_Missense_Mutation_p.G368C|LTBP1_ENST00000402934.1_Missense_Mutation_p.G42C|LTBP1_ENST00000407925.1_Missense_Mutation_p.G42C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	368					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G368C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACCAAGGGCAGCTGTCA	0.547000													67	192					6.5469e-37	1.10613e-36	0.870114	1	0
ZNF268	10795	broad.mit.edu	37	12	133779410	133779410	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:133779410A>T	ENST00000536435.2	+	6	1468	c.1138A>T	c.(1138-1140)Aaa>Taa	p.K380*	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.K380*|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.K219*|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	380						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTCACACCAGAAAACTCATTC	0.388000													11	17					0	0	0.411799	0	0
GRID1	2894	broad.mit.edu	37	10	87628799	87628799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:87628799C>A	ENST00000327946.7	-	6	1004	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	307						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D307Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCTGGGGGTCGCAGAGCAGG	0.582000										Multiple Myeloma(13;0.14)			77	113					4.02937e-33	6.62186e-33	0.870114	1	0
SETBP1	26040	broad.mit.edu	37	18	42533086	42533086	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:42533086A>G	ENST00000282030.5	+	4	4077	c.3781A>G	c.(3781-3783)Aaa>Gaa	p.K1261E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1261						nucleus	DNA binding	p.K1261E(1)|p.K1207E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCATGCACGAAAAGATACTC	0.537000									Schinzel-Giedion syndrome				4	95					0	0	0.248553	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555897	125555897	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:125555897G>A	ENST00000431078.1	+	19	3578	c.3214_splice	c.e19+1	p.G1072_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1072	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1072S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGCAAGAATGGTGAGTGTGA	0.498000													30	97					0	0	0.769981	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	48					0	0	0.184627	0	0
TRAV16	28667	broad.mit.edu	37	14	22459119	22459119	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22459119C>T	ENST00000390444.1	+	0	271																											ATCTTTCCACCTGAAGAAACC	0.463000													21	51					0	0	0.639603	0	0
LPPR4	9890	broad.mit.edu	37	1	99767413	99767413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:99767413A>C	ENST00000370185.3	+	6	1423	c.926A>C	c.(925-927)tAt>tCt	p.Y309S	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.Y151S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309							phosphatidate phosphatase activity	p.Y309S(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTTGATGTCTATTGTGGCTTT	0.358000													17	167					0	0	0.557998	0	0
RSPO2	340419	broad.mit.edu	37	8	109001368	109001368	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:109001368C>A	ENST00000517939.1	-	0	194				RSPO2_ENST00000276659.5_Missense_Mutation_p.G67W|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron			Q6UXX9	RSPO2_HUMAN	R-spondin 2						Wnt receptor signaling pathway	extracellular region	heparin binding	p.G67W(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGGCGCATCCCTTCTCTTCGA	0.468000													147	295					8.54292e-67	1.64919e-66	0.870114	1	0
FCRLA	84824	broad.mit.edu	37	1	161680697	161680697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:161680697C>A	ENST00000540926.1	+	3	538	c.245C>A	c.(244-246)tCc>tAc	p.S82Y	FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.S76Y|FCRLA_ENST00000367959.2_Missense_Mutation_p.S99Y|FCRLA_ENST00000546024.1_Missense_Mutation_p.S93Y|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000236938.6_Missense_Mutation_p.S93Y|FCRLA_ENST00000367953.3_Missense_Mutation_p.S82Y|FCRLA_ENST00000367949.2_Missense_Mutation_p.S93Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.S53Y|FCRLA_ENST00000349527.4_Missense_Mutation_p.S76Y			Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGATTGTGTCCTATGGTGAG	0.557000													43	117					3.50607e-19	5.02923e-19	0.870114	1	0
CUBN	8029	broad.mit.edu	37	10	16873350	16873350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:16873350G>T	ENST00000377833.4	-	65	10494	c.10429C>A	c.(10429-10431)Cct>Act	p.P3477T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3477	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P3477T(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAAGACAGGGTTTGGCAGC	0.393000													107	289					7.53784e-56	1.39308e-55	0.870114	1	0
HHATL	57467	broad.mit.edu	37	3	42738369	42738369	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:42738369C>A	ENST00000441594.1	-	9	1272	c.1010_splice	c.e9-1	p.T337_splice	HHATL_ENST00000310417.5_Splice_Site_p.T337_splice	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	337					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.T337T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGTCAAAGTGCCTGTAAGAGG	0.612000													7	29					0.0293803	0.0300462	0.248553	1	0
GLRX3	10539	broad.mit.edu	37	10	131958334	131958334	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:131958334G>T	ENST00000368644.1	+	3	298		c.e3+1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	p.?(4)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTTTTCAAGGTAAGGATAAA	0.368000													56	117					1.28914e-47	2.31149e-47	0.870114	1	0
LPA	4018	broad.mit.edu	37	6	160977165	160977165	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:160977165T>A	ENST00000447678.1	-	31	4985	c.4865A>T	c.(4864-4866)cAg>cTg	p.Q1622L	LPA_ENST00000316300.5_Missense_Mutation_p.Q1622L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4130	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Q1622L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGATAACTCTGGCCATTACC	0.483000													202	484					0	0	0.870114	0	0
TAF1L	138474	broad.mit.edu	37	9	32633787	32633787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:32633787C>A	ENST00000242310.4	-	1	1880	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	597					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCGAAGACCCTGTTGCTTGG	0.483000													137	337					1.61599e-48	2.91201e-48	0.870114	1	0
NLRC4	58484	broad.mit.edu	37	2	32477681	32477681	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:32477681G>T	ENST00000404025.2	-	4	557	c.69C>A	c.(67-69)atC>atA	p.I23I	NLRC4_ENST00000402280.1_Silent_p.I23I|NLRC4_ENST00000360906.5_Silent_p.I23I|NLRC4_ENST00000342905.6_Silent_p.I23I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	23	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I23I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTCATCTGTGATTTGCTTTA	0.393000													112	317					6.14176e-70	1.19632e-69	0.870114	1	0
COL4A2	1284	broad.mit.edu	37	13	111132683	111132683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:111132683G>T	ENST00000360467.5	+	31	3010	c.2704G>T	c.(2704-2706)Gga>Tga	p.G902*		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	902	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G902*(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGCCATCCAGGAAGCCCTGG	0.592000													6	18					0.0293803	0.0300462	0.248553	1	0
PLB1	151056	broad.mit.edu	37	2	28855888	28855888	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:28855888C>T	ENST00000422425.2	+	55	4091	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	PLB1_ENST00000327757.5_Silent_p.I1360I|PLB1_ENST00000541605.1_Silent_p.I325I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.I1349I(2)|p.I1360I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGATGGCCATCGCACTCTGGA	0.547000													30	196					0	0	0.779181	0	0
PALB2	79728	broad.mit.edu	37	16	23634330	23634330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:23634330C>A	ENST00000261584.4	-	9	3108	c.2956G>T	c.(2956-2958)Gat>Tat	p.D986Y	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	986	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.D986Y(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTTGTTGATCAGAAAGGGTC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					46	196					1.44317e-28	2.30524e-28	0.870114	1	0
PCYT1B	9468	broad.mit.edu	37	X	24597530	24597530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:24597530T>A	ENST00000379145.1	-	6	601	c.557A>T	c.(556-558)gAc>gTc	p.D186V	PCYT1B_ENST00000379144.2_Missense_Mutation_p.D204V|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000356768.4_Missense_Mutation_p.D204V	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	204	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.D204V(4)|p.D186V(2)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGTAATGATGTCCGATGTTGA	0.428000													241	389					0	0	0.870114	0	0
GRIA4	2893	broad.mit.edu	37	11	105804494	105804494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:105804494C>A	ENST00000393127.2	+	14	2539	c.2093C>A	c.(2092-2094)tCa>tAa	p.S698*	GRIA4_ENST00000530497.1_Nonsense_Mutation_p.S698*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.S698*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.S698*	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	698					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.S698*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TACATGCGATCAGCAGAGCCA	0.408000													7	46					5.18039e-06	5.86858e-06	0.278610	1	0
NPC1	4864	broad.mit.edu	37	18	21140248	21140248	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:21140248G>A	ENST00000269228.5	-	6	1382	c.828C>T	c.(826-828)taC>taT	p.Y276Y	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.Y9Y	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	276					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.Y276Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACGCCATGTAGGTGATCC	0.507000													12	207					0	0	0.435327	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661623	113661623	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:113661623G>T	ENST00000393544.2	+	0	1671																											TAGGAAGCCAGACTCCACTGC	0.507000													27	49					2.24059e-21	3.33319e-21	0.706142	1	0
CLDN14	23562	broad.mit.edu	37	21	37833580	37833580	+	Missense_Mutation	SNP	C	C	A	rs142846225	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:37833580C>A	ENST00000399137.1	-	3	1280	c.414G>T	c.(412-414)tgG>tgT	p.W138C	CLDN14_ENST00000399136.1_Missense_Mutation_p.W138C|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Missense_Mutation_p.W138C|CLDN14_ENST00000399135.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399139.1_Missense_Mutation_p.W138C	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	138					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.W138C(2)		endometrium(1)|lung(5)|skin(1)	7						CGTTGGTGGTCCAGGAGACGG	0.637000													10	37					1.61879e-10	1.99222e-10	0.411799	1	0
RABL3	285282	broad.mit.edu	37	3	120417341	120417341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:120417341T>A	ENST00000273375.3	-	5	492	c.463A>T	c.(463-465)Aca>Tca	p.T155S	RABL3_ENST00000483733.1_Missense_Mutation_p.T155S|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	155	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.T155S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGGCGCTTTGTTTCATGAATC	0.358000													158	511					0	0	0.870114	0	0
BCAS1	8537	broad.mit.edu	37	20	52612502	52612502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:52612502C>A	ENST00000395961.3	-	5	977	c.811G>T	c.(811-813)Gca>Tca	p.A271S	BCAS1_ENST00000434986.2_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.A271S|BCAS1_ENST00000371440.3_Missense_Mutation_p.A271S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	271						cytoplasm	protein binding	p.A271S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCGTCCTTTGCAGTCTCCAGT	0.473000													73	207					1.62783e-20	2.38557e-20	0.870114	1	0
ABCC9	10060	broad.mit.edu	37	12	22089557	22089557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:22089557C>G	ENST00000261200.4	-	1	51	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	ABCC9_ENST00000538350.1_Missense_Mutation_p.G18R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G18R|ABCC9_ENST00000345162.2_Missense_Mutation_p.G18R|ABCC9_ENST00000326684.4_Missense_Mutation_p.G18R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	18					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G18R(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTAGTACACCATCGTTGATA	0.338000													23	120					0	0	0.654019	0	0
MSC	9242	broad.mit.edu	37	8	72754932	72754932	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:72754932A>T	ENST00000325509.4	-	2	874	c.585T>A	c.(583-585)gtT>gtA	p.V195V	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	195					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V195V(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGGCTGCGGAAACTTCTTTGG	0.468000													256	518					0	0	0.870114	0	0
SCG2	7857	broad.mit.edu	37	2	224463262	224463262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:224463262C>A	ENST00000305409.2	-	2	971	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	247					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.G247*(2)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGTCTTCTCCCCCGACCACA	0.413000													168	543					3.92034e-43	6.88125e-43	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237729943	237729943	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:237729943G>A	ENST00000366574.2	+	28	3608	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	RYR2_ENST00000542537.1_Silent_p.K1081K|RYR2_ENST00000360064.6_Silent_p.K1095K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1097	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K1095K(2)|p.K1095N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGTGAAGGCCGGACGGT	0.557000													81	282					0	0	0.870114	0	0
NFAT5	10725	broad.mit.edu	37	16	69660388	69660388	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:69660388C>T	ENST00000432919.1	+	3	1418	c.210C>T	c.(208-210)agC>agT	p.S70S	NFAT5_ENST00000393742.2_5'UTR|NFAT5_ENST00000354436.2_Silent_p.S52S|NFAT5_ENST00000349945.1_5'UTR|NFAT5_ENST00000566899.1_5'UTR|NFAT5_ENST00000567239.1_Silent_p.S70S	NM_001113178.2|NM_138713.3	NP_001106649.1|NP_619727.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	52	Ser-rich.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S70S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCAGACAAGCGGTGGTGAGG	0.448000													4	67					0	0	0.248553	0	0
TENM2	57451	broad.mit.edu	37	5	167525048	167525048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:167525048C>A	ENST00000519204.1	+	8	1484	c.1366C>A	c.(1366-1368)Cca>Aca	p.P456T	TENM2_ENST00000518659.1_Missense_Mutation_p.P577T|TENM2_ENST00000545108.1_Missense_Mutation_p.P577T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.P410T|TENM2_ENST00000520394.1_Missense_Mutation_p.P345T					teneurin transmembrane protein 2									p.P577T(2)|p.P410T(2)|p.P456T(2)									GCAGGACTGTCCACGTAACTG	0.453000													28	62					1.26612e-14	1.68246e-14	0.779181	1	0
OR8J1	219477	broad.mit.edu	37	11	56128272	56128272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:56128272C>A	ENST00000303039.3	+	1	582	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TAATGTTCCTCTGTTAGCATT	0.333000													53	158					2.93687e-30	4.76857e-30	0.870114	1	0
LILRB1	10859	broad.mit.edu	37	19	55146212	55146212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:55146212C>A	ENST00000396331.1	+	11	1838	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S495*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S544*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S478*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S478*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	494					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S494*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACTGGACATCGAGTGAGTAG	0.577000										HNSCC(37;0.09)			74	178					5.82064e-54	1.07025e-53	0.870114	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784676	140784676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140784676G>T	ENST00000573521.1	+	1	2157	c.2157G>T	c.(2155-2157)tgG>tgT	p.W719C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGCACTGGCACTCCTCGC	0.587000													19	38					1.33834e-09	1.61585e-09	0.557998	1	0
OR4D6	219983	broad.mit.edu	37	11	59224639	59224639	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:59224639T>C	ENST00000300127.2	+	1	229	c.206T>C	c.(205-207)cTg>cCg	p.L69P		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69P(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AAATCAGTCCTGGACATCGTT	0.463000													38	163					0	0	0.819951	0	0
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000412726.1_Missense_Mutation_p.R294H|DCC_ENST00000581580.1_Missense_Mutation_p.R101H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517000													13	521					0	0	0.457914	0	0
SCN9A	6335	broad.mit.edu	37	2	167133545	167133545	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:167133545T>A	ENST00000375387.4	-	16	3165	c.2825A>T	c.(2824-2826)cAa>cTa	p.Q942L	SCN9A_ENST00000303354.6_Missense_Mutation_p.Q942L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q930L|SCN9A_ENST00000409435.1_Missense_Mutation_p.Q941L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	941						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q930L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCACATAGCTTGACCAGCGAC	0.448000													118	830					0	0	0.870114	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750472	41750472	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:41750472C>A	ENST00000226382.2	-	1	515	c.156G>T	c.(154-156)ggG>ggT	p.G52G	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	52					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G52G(2)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CGGACGTGGCCCCAAAAGTGG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	46					0.00307968	0.00325394	0.278610	1	0
ZNF560	147741	broad.mit.edu	37	19	9578614	9578614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:9578614C>A	ENST00000301480.4	-	10	1222	c.1009G>T	c.(1009-1011)Gta>Tta	p.V337L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V337L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCAACATTTACAGCATGGCTT	0.388000													5	152					0.184627	0.186348	0.184627	1	0
C9orf131	138724	broad.mit.edu	37	9	35045842	35045842	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:35045842C>A	ENST00000312292.5	+	2	3263	c.3216C>A	c.(3214-3216)ccC>ccA	p.P1072P	C9orf131_ENST00000354479.5_Silent_p.P999P|C9orf131_ENST00000421362.2_Silent_p.P1024P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1072								p.P1072P(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCATCGACCCCTACCCACCA	0.517000													116	393					5.22802e-61	9.91583e-61	0.870114	1	0
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:35836516C>A	ENST00000085219.5	+	12	2286	c.2220C>A	c.(2218-2220)gcC>gcA	p.A740A	CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Silent_p.A568A|CD22_ENST00000544992.2_Intron|CD22_ENST00000594250.1_Silent_p.A563A|CD22_ENST00000536635.2_Silent_p.A652A|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000341773.6_Silent_p.A563A	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	740					cell adhesion		protein binding|sugar binding	p.A740A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTAGAAGGGCCCCCCTCTCTG	0.582000													22	21					9.90768e-06	1.11423e-05	0.681144	1	0
USHBP1	83878	broad.mit.edu	37	19	17373540	17373540	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:17373540C>T	ENST00000252597.3	-	4	636	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	USHBP1_ENST00000431146.2_Missense_Mutation_p.G91R|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	155							PDZ domain binding	p.G155R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTGCTCCCCCTTCGCTTGTG	0.687000													25	10					0	0	0.740014	0	0
ACTG1	71	broad.mit.edu	37	17	79479156	79479156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:79479156C>A	ENST00000575842.1	-	2	562	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	ACTG1_ENST00000575087.1_Missense_Mutation_p.G46C|ACTG1_ENST00000331925.2_Missense_Mutation_p.G46C|ACTG1_ENST00000573283.1_Missense_Mutation_p.G46C			P63261	ACTG_HUMAN	actin, gamma 1	46					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G46C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGGCCCATGCCCACCATGACG	0.667000													5	14					0.0215528	0.0221879	0.217242	1	0
SYNPO2	171024	broad.mit.edu	37	4	119948371	119948371	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:119948371C>T	ENST00000307142.4	+	3	1043	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R283W|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R283W	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	283						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R283W(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGACTGCCCCGGGTGGAAGT	0.557000													39	93					0	0	0.080422	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513291	70513291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:70513291C>A	ENST00000503640.1	-	1	127	c.72G>T	c.(70-72)ttG>ttT	p.L24F	UGT2A1_ENST00000514019.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000286604.4_Missense_Mutation_p.L24F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	24					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.L24F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCAAATCAAAACATTCC	0.398000													15	89					5.35267e-07	6.05433e-07	0.189662	1	0
FCRL4	83417	broad.mit.edu	37	1	157556176	157556176	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:157556176A>T	ENST00000271532.1	-	6	1052	c.917T>A	c.(916-918)cTg>cAg	p.L306Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	306	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.L306Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GACAAGGACCAGCATCTCCCC	0.602000													63	163					0	0	0.139131	0	0
NLRP2	55655	broad.mit.edu	37	19	55497607	55497607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:55497607G>T	ENST00000543010.1	+	8	2433	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	NLRP2_ENST00000339757.7_Missense_Mutation_p.G742C|NLRP2_ENST00000538819.1_Missense_Mutation_p.G740C|NLRP2_ENST00000263437.6_Missense_Mutation_p.G761C|NLRP2_ENST00000537859.1_Missense_Mutation_p.G742C|NLRP2_ENST00000448584.2_Missense_Mutation_p.G764C|NLRP2_ENST00000391721.4_Missense_Mutation_p.G740C|NLRP2_ENST00000427260.2_Missense_Mutation_p.G741C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	764					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.G764C(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCCTTCAAGGCAATGACCA	0.443000													40	82					1.62957e-23	2.57323e-23	0.104719	1	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328321	21328321	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:21328321C>T	ENST00000444326.1	+	0	437																		p.P67S(1)									CGATGAAGTGCCTTTCTACAT	0.423000													12	472					0	0	0.105934	0	0
CSMD3	114788	broad.mit.edu	37	8	113348989	113348989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113348989G>T	ENST00000297405.5	-	44	7155	c.6911C>A	c.(6910-6912)cCa>cAa	p.P2304Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2200Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2234Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2264Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2304	CUB 13.					integral to membrane|plasma membrane		p.P2304Q(1)|p.P2264Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGTTTGGATATTCATC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	275					3.09899e-07	3.52502e-07	0.047766	1	0
ZMYM4	9202	broad.mit.edu	37	1	35847281	35847281	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:35847281G>T	ENST00000314607.6	+	9	1571	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	ZMYM4_ENST00000373297.2_Silent_p.S497S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	497					multicellular organismal development		DNA binding|zinc ion binding	p.S497S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTGGGTCGGGACAATGCC	0.433000													23	204					7.87624e-14	1.04555e-13	0.076483	1	0
C15orf52	388115	broad.mit.edu	37	15	40628796	40628796	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:40628796C>T	ENST00000397536.2	-	5	403	c.368G>A	c.(367-369)aGg>aAg	p.R123K	C15orf52_ENST00000559313.1_Missense_Mutation_p.R333K			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	333								p.R333K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCAGTCAGCCTCTCCTTGCC	0.632000													13	134					0	0	0.189662	0	0
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:153691700C>A	ENST00000304337.2	-	2	1277	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.G153C(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACTGGTACACCTGTAGCTTCT	0.363000													35	118					3.90053e-15	5.33013e-15	0.163468	1	0
CYB561A3	220002	broad.mit.edu	37	11	61121427	61121427	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:61121427C>G	ENST00000426130.2	-	5	1052	c.273G>C	c.(271-273)ggG>ggC	p.G91G	CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000536915.1_Silent_p.G74G|CYB561A3_ENST00000294072.4_Silent_p.G74G|CYB561A3_ENST00000447532.2_Silent_p.G74G	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3									p.G91G(2)|p.G74G(2)									GCAGTTTGGGCCCCACCCACG	0.607000													35	94					0	0	0.193644	0	0
EDIL3	10085	broad.mit.edu	37	5	83239283	83239283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:83239283C>G	ENST00000296591.5	-	11	1816	c.1398G>C	c.(1396-1398)agG>agC	p.R466S	EDIL3_ENST00000380138.3_Missense_Mutation_p.R456S	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	466	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.R466S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTGATCCTCCCGTACC	0.488000													42	128					0	0	0.124865	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22868122	22868122	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:22868122C>T	ENST00000251822.6	+	7	2229	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	RHOBTB2_ENST00000522948.1_Silent_p.T571T|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.T586T	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	564	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.T564T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCATGTTCACCTCCAGCCCCG	0.587000													45	204					0	0	0.131918	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377943	48377943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:48377943A>T	ENST00000222002.3	-	5	855	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	239					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.V239E(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTTGTCCACTACATAATCAAC	0.403000													52	124					0	0	0.139131	0	0
ADCY6	112	broad.mit.edu	37	12	49170251	49170251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:49170251C>A	ENST00000307885.4	-	6	2189	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	ADCY6_ENST00000357869.3_Missense_Mutation_p.V499L|ADCY6_ENST00000550422.1_Missense_Mutation_p.V499L|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	499					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.V499L(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAGGGTCACATCATTGGAC	0.647000													43	55					1.56793e-16	2.20752e-16	0.139131	1	0
WNK4	65266	broad.mit.edu	37	17	40940775	40940775	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:40940775A>C	ENST00000246914.5	+	11	2138	c.2117A>C	c.(2116-2118)gAt>gCt	p.D706A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	706					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.D706A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGATTTGATCTGGATGGG	0.517000													8	136					0	0	0.038147	0	0
CFH	3075	broad.mit.edu	37	1	196654266	196654266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:196654266A>C	ENST00000367429.4	+	7	1103	c.863A>C	c.(862-864)gAt>gCt	p.D288A	CFH_ENST00000359637.2_Missense_Mutation_p.D224A|CFH_ENST00000439155.2_Missense_Mutation_p.D288A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	288	Sushi 5.				complement activation, alternative pathway	extracellular space		p.D288A(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAACTGGAGATGAAATCACG	0.383000													8	362					0	0	0.047766	0	0
OR13C4	138804	broad.mit.edu	37	9	107288712	107288712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:107288712G>T	ENST00000277216.3	-	1	778	c.779C>A	c.(778-780)gCa>gAa	p.A260E		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A260E(3)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTAGGTTTTGCATACATAAA	0.468000													14	161					4.36969e-10	5.30511e-10	0.105934	1	0
FAT3	120114	broad.mit.edu	37	11	92531039	92531039	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:92531039A>T	ENST00000298047.6	+	9	4877	c.4860A>T	c.(4858-4860)ctA>ctT	p.L1620L	FAT3_ENST00000525166.1_Silent_p.L1470L|FAT3_ENST00000409404.2_Silent_p.L1620L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1620	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L1620L(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCGGTCCTAGGCATCATCA	0.428000										TCGA Ovarian(4;0.039)			73	130					0	0	0.139131	0	0
ABCA10	10349	broad.mit.edu	37	17	67151277	67151277	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:67151277C>A	ENST00000269081.4	-	31	4486	c.3576_splice	c.e31-1	p.E1193_splice	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1193					transport	integral to membrane	ATP binding|ATPase activity	p.E1193*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGACTGGTTCCTGGAAAACA	0.323000													26	68					3.73148e-12	4.77503e-12	0.125774	1	0
BICD1	636	broad.mit.edu	37	12	32260458	32260458	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:32260458G>C	ENST00000548411.1	+	1	374	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000551086.1_Missense_Mutation_p.E65Q|BICD1_ENST00000281474.5_Missense_Mutation_p.E65Q|BICD1_ENST00000551848.1_Missense_Mutation_p.E65Q|BICD1_ENST00000550207.1_Missense_Mutation_p.E65Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	65					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.E65Q(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCTCAAACAGGAGCTGGAGCA	0.577000													5	9					0	0	0.047766	0	0
VPS37C	55048	broad.mit.edu	37	11	60899828	60899828	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:60899828G>A	ENST00000301765.5	-	5	764	c.532C>T	c.(532-534)Ccg>Tcg	p.P178S		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	178	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.P178S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGGCGCACCGGGGGTGGTGGA	0.682000													4	14					0	0	0.184627	0	0
ZBED4	9889	broad.mit.edu	37	22	50277734	50277734	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:50277734G>A	ENST00000216268.4	+	2	901	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	142						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.E142K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGAAGGAGTTCAGCAG	0.507000													35	71					0	0	0.163468	0	0
C2orf78	388960	broad.mit.edu	37	2	74043181	74043181	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:74043181C>A	ENST00000409561.1	+	3	1952	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	611	Lys-rich.							p.Q581K(2)|p.Q611K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAGAAAAATCAACCTGAGCT	0.438000													32	70					4.4194e-11	5.49808e-11	0.173368	1	0
ASXL3	80816	broad.mit.edu	37	18	31323228	31323228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:31323228C>A	ENST00000269197.5	+	12	3416	c.3416C>A	c.(3415-3417)cCt>cAt	p.P1139H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P846H(1)|p.P1139H(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGGAAGGGCCTCCAAACTTA	0.473000													10	49					0.0581538	0.058885	0.058154	1	0
CD163	9332	broad.mit.edu	37	12	7636092	7636092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:7636092C>A	ENST00000359156.4	-	12	3161	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	CD163_ENST00000396620.3_Missense_Mutation_p.G1020W|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.G975W|CD163_ENST00000432237.2_Missense_Mutation_p.G987W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGTCCAGTCCCCTGACCAAAC	0.517000													28	116					4.22769e-11	5.27044e-11	0.116897	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714185	70714185	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:70714185G>T	ENST00000530196.1	-	0	333					NR_003951.1																						CCAAACCGCAGACTATAGGAG	0.522000													8	110					0.000566183	0.000597336	0.160694	1	0
AGO3	192669	broad.mit.edu	37	1	36437711	36437711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:36437711G>T	ENST00000373191.4	+	4	748	c.399G>T	c.(397-399)tgG>tgT	p.W133C	AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000397828.2_Missense_Mutation_p.W133C|AGO3_ENST00000324350.5_Missense_Mutation_p.W133C	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3									p.W133C(2)									GGGTGAGTTGGCACCTACTGC	0.483000													15	102					1.05317e-09	1.2735e-09	0.119110	1	0
KMT2C	58508	broad.mit.edu	37	7	151962159	151962159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:151962159C>A	ENST00000355193.2	-	8	1366	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	KMT2C_ENST00000262189.6_Missense_Mutation_p.W383L					lysine (K)-specific methyltransferase 2C									p.W383L(2)									AGGACATTGCCAACCTGCACG	0.438000													18	726					5.45024e-15	7.43103e-15	0.083992	1	0
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:17071902C>G	ENST00000359963.3	-	1	1798	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	513					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.Q513H(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTCACGAGCTGTAGCACCA	0.498000													104	163					0	0	0.139131	0	0
FCRLA	84824	broad.mit.edu	37	1	161680653	161680653	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:161680653G>A	ENST00000367959.2	+	3	494	c.252G>A	c.(250-252)caG>caA	p.Q84Q	FCRLA_ENST00000309691.6_Silent_p.Q61Q|FCRLA_ENST00000236938.6_Silent_p.Q78Q|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367949.2_Silent_p.Q78Q|FCRLA_ENST00000367950.1_Silent_p.Q38Q|FCRLA_ENST00000367953.3_Silent_p.Q67Q|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000349527.4_Silent_p.Q61Q|FCRLA_ENST00000546024.1_Silent_p.Q78Q|FCRLA_ENST00000540926.1_Silent_p.Q67Q|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000294796.4_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	61	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.Q84Q(2)|p.Q61Q(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTTCCAGGTCAAGGCCT	0.562000													47	142					0	0	0.139131	0	0
TRANK1	9881	broad.mit.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:36872739C>T	ENST00000429976.2	-	21	8450	c.8203G>A	c.(8203-8205)Ggc>Agc	p.G2735S	TRANK1_ENST00000428977.2_Missense_Mutation_p.G2185S|TRANK1_ENST00000301807.6_Missense_Mutation_p.G2185S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2735					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.G2185S(2)|p.G2178S(2)|p.G2735S(2)|p.G2735C(1)|p.G2185C(1)|p.G2178C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCTGGGCCACGGGTAAAC	0.592000													24	55					0	0	0.083992	0	0
KIAA1377	57562	broad.mit.edu	37	11	101786030	101786030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:101786030G>T	ENST00000263468.8	+	1	285	c.15G>T	c.(13-15)agG>agT	p.R5S	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	5							protein binding	p.R5S(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGGCGGGGAGGCCCGGAACCC	0.701000													52	70					6.3237e-29	1.0729e-28	0.139131	1	0
CDH6	1004	broad.mit.edu	37	5	31297485	31297485	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:31297485C>G	ENST00000265071.2	+	4	878	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q150E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q205E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTACAGGGACAGCCCTATTT	0.373000													14	235					0	0	0.105934	0	0
ZMYND11	10771	broad.mit.edu	37	10	294355	294355	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:294355T>C	ENST00000397962.3	+	13	1735	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	ZMYND11_ENST00000558098.2_Missense_Mutation_p.V436A|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000535374.1_Missense_Mutation_p.V231A|ZMYND11_ENST00000403354.1_Missense_Mutation_p.V356A|ZMYND11_ENST00000381607.4_Missense_Mutation_p.V342A|ZMYND11_ENST00000402736.1_Missense_Mutation_p.V405A|ZMYND11_ENST00000381602.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000381604.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000602682.1_Missense_Mutation_p.V351A|ZMYND11_ENST00000381584.1_Missense_Mutation_p.V419A|ZMYND11_ENST00000397959.3_Missense_Mutation_p.V351A|ZMYND11_ENST00000309776.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000545619.1_Missense_Mutation_p.V316A|ZMYND11_ENST00000509513.2_Missense_Mutation_p.V435A|ZMYND11_ENST00000381591.1_Missense_Mutation_p.V436A			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	396	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V436A(4)|p.V396A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAGTCTCCGTGTCAACTCAG	0.498000													44	101					0	0	0.104719	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432382	107432382	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:107432382A>G	ENST00000340010.5	-	4	459	c.275T>C	c.(274-276)tTa>tCa	p.L92S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L57S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAAATGCTAAACCTGTAAA	0.423000													8	126					0	0	0.047766	0	0
RLTPR	146206	broad.mit.edu	37	16	67680809	67680809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:67680809G>T	ENST00000334583.6	+	8	872	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	RLTPR_ENST00000545661.1_Missense_Mutation_p.D182Y	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	182										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCAGGACGTGGACACCATTTA	0.627000													4	37					0.150653	0.151658	0.150653	1	0
CSMD1	64478	broad.mit.edu	37	8	2966218	2966218	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:2966218C>A	ENST00000520002.1	-	45	7219	c.6664G>T	c.(6664-6666)Gcc>Tcc	p.A2222S	CSMD1_ENST00000537824.1_Missense_Mutation_p.A2221S|CSMD1_ENST00000602723.1_Missense_Mutation_p.A2222S|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2222S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2221S|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2222S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2222	CUB 13.					integral to membrane		p.A2221S(1)|p.A1950S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTTCGAGGGCTGTGTTGCCA	0.507000													8	38					0.00448238	0.00463589	0.047766	1	0
TBX5	6910	broad.mit.edu	37	12	114804114	114804114	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:114804114C>T	ENST00000310346.4	-	8	1504	c.838G>A	c.(838-840)Gct>Act	p.A280T	TBX5_ENST00000526441.1_Missense_Mutation_p.A280T|TBX5_ENST00000405440.2_Missense_Mutation_p.A280T|TBX5_ENST00000349716.5_Missense_Mutation_p.A230T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	280					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A280T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGGAGAGAGCTCGAGACTCG	0.552000													15	207					0	0	0.146539	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686206	36686206	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:36686206C>A	ENST00000265113.4	+	10	1940	c.1464C>A	c.(1462-1464)tcC>tcA	p.S488S	SLC1A3_ENST00000381918.3_Silent_p.S443S|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	488					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.S488S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGAGACTCCCTGGGAGCTG	0.517000													18	249					8.00594e-06	8.8402e-06	0.189662	1	0
MMP10	4319	broad.mit.edu	37	11	102643716	102643716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:102643716C>A	ENST00000279441.4	-	8	1124	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	363	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R363I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCATTTCCTCTGATGGCCCA	0.368000													16	255					1.3612e-06	1.52677e-06	0.132662	1	0
NLGN1	22871	broad.mit.edu	37	3	173996827	173996827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:173996827G>T	ENST00000457714.1	+	6	1465	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	NLGN1_ENST00000361589.4_Missense_Mutation_p.D346Y|NLGN1_ENST00000401917.3_Missense_Mutation_p.D386Y|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.D346Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	363					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGTTGACCAAGATATTCAACC	0.428000													6	274					0.00116845	0.00121995	0.021553	1	0
OR6K3	391114	broad.mit.edu	37	1	158687393	158687393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:158687393G>T	ENST00000368146.1	-	1	560	c.561C>A	c.(559-561)ccC>ccA	p.P187P	OR6K3_ENST00000368145.1_Silent_p.P171P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P187P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGATTTGGTTGGGCCCACAGA	0.512000													68	175					1.33661e-31	2.33327e-31	0.139131	1	0
FBLIM1	54751	broad.mit.edu	37	1	16096939	16096939	+	Nonsense_Mutation	SNP	C	C	T	rs140794901		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:16096939C>T	ENST00000375766.3	+	6	1217	c.577C>T	c.(577-579)Cga>Tga	p.R193*	FBLIM1_ENST00000332305.5_Nonsense_Mutation_p.R96*|FBLIM1_ENST00000441801.2_Nonsense_Mutation_p.R193*|FBLIM1_ENST00000400773.1_Nonsense_Mutation_p.R96*|FBLIM1_ENST00000375771.1_Nonsense_Mutation_p.R193*	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	193	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.R193*(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CGTGTCCCCCCGAGAGCTGGC	0.642000													11	133					0	0	0.093190	0	0
CIT	11113	broad.mit.edu	37	12	120263085	120263085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:120263085C>A	ENST00000392521.2	-	8	896	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	CIT_ENST00000261833.7_Missense_Mutation_p.G281C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	281	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.G281C(4)|p.G282C(2)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGTCCAGGCCGTAGGTGCCT	0.527000													80	125					3.30373e-36	5.98337e-36	0.139131	1	0
NEB	4703	broad.mit.edu	37	2	152512820	152512820	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:152512820G>A	ENST00000397345.3	-	49	6544	c.6342C>T	c.(6340-6342)caC>caT	p.H2114H	NEB_ENST00000172853.10_Silent_p.H2114H|NEB_ENST00000427231.2_Silent_p.H2114H|NEB_ENST00000409198.1_Silent_p.H2114H|NEB_ENST00000603639.1_Silent_p.H2114H|NEB_ENST00000604864.1_Silent_p.H2114H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2114					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.H2114H(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGGCAGGGGTGTGGTAGCTGG	0.478000													61	172					0	0	0.139131	0	0
HDAC2	3066	broad.mit.edu	37	6	114270215	114270215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:114270215C>T	ENST00000519065.1	-	8	1145	c.769G>A	c.(769-771)Gct>Act	p.A257T	HDAC2_ENST00000368632.2_Missense_Mutation_p.A227T|HDAC2_ENST00000519108.1_Missense_Mutation_p.A227T|HDAC2_ENST00000398283.2_Missense_Mutation_p.A351T			Q92769	HDAC2_HUMAN	histone deacetylase 2	257	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.A257T(2)|p.A351T(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	AATACCACAGCACTAGGTTGA	0.378000													43	122					0	0	0.139131	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157231	12157231	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:12157231G>T	ENST00000263932.2	+	3	447	c.225G>T	c.(223-225)ctG>ctT	p.L75L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	75					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.L75L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACTACCTGGATGAGGCCG	0.577000													26	109					7.92952e-12	1.00936e-11	0.091800	1	0
C15orf60	283677	broad.mit.edu	37	15	73852136	73852136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:73852136C>A	ENST00000331090.6	+	6	708	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.S199Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	227								p.S227Y(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATGAACAATCTGCATGGGGT	0.463000													43	107					6.5261e-18	9.45268e-18	0.104719	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125850370	125850370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:125850370C>A	ENST00000393434.2	-	13	1829	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D494Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D393Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D504Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	494	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.D494Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCATGAGATCTGCCAACCTG	0.647000													38	75					1.96642e-18	2.87931e-18	0.092188	1	0
PHF14	9678	broad.mit.edu	37	7	11022088	11022088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:11022088G>T	ENST00000403050.3	+	3	654	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	68	Glu/Lys-rich.						zinc ion binding	p.E68*(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TATTTTAGAAGAAGAACTGAA	0.313000													13	36					0.00010058	0.000108	0.093190	1	0
EPYC	1833	broad.mit.edu	37	12	91358003	91358003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:91358003G>T	ENST00000261172.3	-	7	991	c.899C>A	c.(898-900)cCt>cAt	p.P300H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	300					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.P300H(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GAGATTAATAGGGTTTCCATC	0.393000													71	92					1.55545e-33	2.7878e-33	0.139131	1	0
STARD7	56910	broad.mit.edu	37	2	96858109	96858109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:96858109C>G	ENST00000337288.5	-	6	1224	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	281	START.					mitochondrion		p.E281Q(2)|p.E206Q(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AAACTCACCTCATCAAATGAC	0.493000													64	166					0	0	0.139131	0	0
BDP1	55814	broad.mit.edu	37	5	70797393	70797393	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:70797393A>T	ENST00000380675.2	+	0	2224				BDP1_ENST00000358731.4_Missense_Mutation_p.H654L			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.H654L(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCACAGAACCACGTGGAAAAA	0.343000													24	110					0	0	0.099896	0	0
OR2G3	81469	broad.mit.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247769640C>A	ENST00000320002.2	+	1	785	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F251L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGATTATATTCTATGGCACCA	0.488000													25	97					1.85244e-09	2.22662e-09	0.083992	1	0
PDE6C	5146	broad.mit.edu	37	10	95425130	95425130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:95425130A>T	ENST00000371447.3	+	22	2670	c.2532A>T	c.(2530-2532)tcA>tcT	p.S844S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	844					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S844S(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTGAAGATTCAGGAGGTGGTG	0.318000													37	146					0	0	0.131918	0	0
TGFBR3	7049	broad.mit.edu	37	1	92174229	92174229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:92174229C>A	ENST00000212355.4	-	14	2743	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E760*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E759*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	760					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E760*(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTTTAGATTCTGCTTCATGG	0.493000													68	177					1.49552e-23	2.36465e-23	0.139131	1	0
NDRG2	57447	broad.mit.edu	37	14	21486634	21486634	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:21486634G>T	ENST00000556147.1	-	13	1783	c.843C>A	c.(841-843)acC>acA	p.T281T	NDRG2_ENST00000298687.5_Silent_p.T281T|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000554104.1_Silent_p.T194T|NDRG2_ENST00000553503.1_Silent_p.T267T|NDRG2_ENST00000397851.2_Silent_p.T281T|NDRG2_ENST00000350792.3_Silent_p.T267T|NDRG2_ENST00000555158.1_Silent_p.T267T|NDRG2_ENST00000554143.1_Silent_p.T267T|NDRG2_ENST00000298684.5_Silent_p.T238T|NDRG2_ENST00000397855.3_Silent_p.T238T|NDRG2_ENST00000403829.3_Silent_p.T277T|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397847.2_Silent_p.T270T|NDRG2_ENST00000397858.1_Silent_p.T281T|NDRG2_ENST00000360463.3_Silent_p.T267T|NDRG2_ENST00000397853.3_Silent_p.T281T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	281					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		p.T281T(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACGAGGTCTGGGTGGGGTCCA	0.582000													12	42					3.27435e-08	3.81429e-08	0.119110	1	0
CROT	54677	broad.mit.edu	37	7	87011391	87011391	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:87011391G>T	ENST00000331536.3	+	12	1249	c.1062_splice	c.e12-1	p.G355_splice	CROT_ENST00000442291.1_Splice_Site_p.G355_splice|CROT_ENST00000419147.2_Splice_Site_p.G383_splice	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	355					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.G355V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TATTTTCAGGGTTCAGAGAAG	0.333000													37	56					6.29468e-14	8.37443e-14	0.214465	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													6	19					0.00116845	0.00121995	0.021553	1	0
ELF2	1998	broad.mit.edu	37	4	139980627	139980627	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:139980627G>C	ENST00000394235.2	-	10	1758	c.1256C>G	c.(1255-1257)cCa>cGa	p.P419R	ELF2_ENST00000379550.1_Missense_Mutation_p.P431R|ELF2_ENST00000510408.1_Missense_Mutation_p.P359R|ELF2_ENST00000265495.4_Missense_Mutation_p.P419R|ELF2_ENST00000358635.3_Missense_Mutation_p.P371R|ELF2_ENST00000379549.2_Missense_Mutation_p.P342R|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	431					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P419R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GACTACCTTTGGAGAGGTCGC	0.438000													8	185					0	0	0.038147	0	0
PROM2	150696	broad.mit.edu	37	2	95945675	95945675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:95945675G>T	ENST00000317620.9	+	11	1490	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	PROM2_ENST00000403131.2_Missense_Mutation_p.G453C|PROM2_ENST00000317668.4_Missense_Mutation_p.G453C|PROM2_ENST00000542147.1_Missense_Mutation_p.G453C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	453						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G453C(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGCATCTGGGGCCTGTCTGC	0.642000													24	110					1.1804e-14	1.59321e-14	0.091800	1	0
KDM3A	55818	broad.mit.edu	37	2	86678331	86678331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:86678331A>G	ENST00000409556.1	+	5	813	c.448A>G	c.(448-450)Ata>Gta	p.I150V	KDM3A_ENST00000409064.1_Missense_Mutation_p.I150V|KDM3A_ENST00000312912.5_Missense_Mutation_p.I150V|KDM3A_ENST00000542128.1_Missense_Mutation_p.I98V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	150					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.I150V(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTTGAAGCCTATACAGGTAAA	0.363000													12	70					0	0	0.080935	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:54219926C>A	ENST00000384818.1	+	0	79					NR_030203.1																						AGAGTGTTACCGTGTGAGAAA	0.428000													63	101					4.45325e-31	7.75149e-31	0.139131	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044273	90044273	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:90044273C>A	ENST00000462693.1	+	0	224																											CAGCAGAGGCCAGGCCAGCCT	0.537000													28	262					1.06801e-11	1.35521e-11	0.144211	1	0
TGM7	116179	broad.mit.edu	37	15	43585794	43585794	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:43585794T>A	ENST00000452443.2	-	2	50	c.46A>T	c.(46-48)Agc>Tgc	p.S16C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	16					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S16C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCTGGAGCTCTGCAGGTCG	0.652000													25	86					0	0	0.091800	0	0
HP1BP3	50809	broad.mit.edu	37	1	21074085	21074085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:21074085C>A	ENST00000375003.2	-	7	2249	c.749G>T	c.(748-750)gGg>gTg	p.G250V	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402V			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GAACCCTTTCCCAGAGATCTG	0.373000													11	120					0.00185496	0.00193005	0.105934	1	0
NFIL3	4783	broad.mit.edu	37	9	94172835	94172835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:94172835C>A	ENST00000297689.3	-	2	576	c.182G>T	c.(181-183)cGg>cTg	p.R61L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	61					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R61L(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CCGTTTCCTCCGACATGCAGA	0.433000													127	365					4.27115e-56	8.28178e-56	0.139131	1	0
TAS1R1	80835	broad.mit.edu	37	1	6639557	6639557	+	Nonsense_Mutation	SNP	C	C	A	rs145637880	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:6639557C>A	ENST00000333172.6	+	6	2632	c.2439C>A	c.(2437-2439)taC>taA	p.Y813*	TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Y559*|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	813					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.Y813*(2)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTAAGTGCTACGTGATCCTCT	0.617000													28	126					4.7796e-09	5.66611e-09	0.099896	1	0
MYH1	4619	broad.mit.edu	37	17	10399714	10399714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:10399714G>T	ENST00000226207.5	-	34	4903	c.4809C>A	c.(4807-4809)agC>agA	p.S1603R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1603						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1603R(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCCAGTGTGCTCTGCATGG	0.448000													126	258					7.75303e-77	1.52784e-76	0.139131	1	0
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:98802742C>T	ENST00000266058.4	-	20	2325	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G694R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	694	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.G694R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612000													16	60					0	0	0.160694	0	0
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547000													18	63					3.51602e-12	4.50408e-12	0.204396	1	0
MIR381HG	378881	broad.mit.edu	37	14	101515025	101515025	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:101515025G>T	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							ttgttaaaaagcagattctga	0.413000													25	61					2.21704e-12	2.84308e-12	0.076483	1	0
RASSF1	11186	broad.mit.edu	37	3	50368057	50368057	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:50368057G>A	ENST00000359365.4	-	6	1084	c.978C>T	c.(976-978)tgC>tgT	p.C326C	RASSF1_ENST00000357043.2_Silent_p.C330C|RASSF1_ENST00000327761.3_Silent_p.C256C|RASSF1_ENST00000395126.3_Silent_p.C175C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	330	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	p.C256C(2)|p.C330C(2)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTTCTGGCGGCAATAGGAGT	0.612000													50	144					0	0	0.139131	0	0
PRDM5	11107	broad.mit.edu	37	4	121631535	121631535	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:121631535C>T	ENST00000264808.3	-	15	1897	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.A522T|PRDM5_ENST00000515109.1_Missense_Mutation_p.G493D	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	553					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.A553T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGAAGGCCTTGCTGCAC	0.483000													37	104					0	0	0.086207	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574545	11574545	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:11574545G>A	ENST00000294484.6	+	4	1553	c.1415G>A	c.(1414-1416)tGc>tAc	p.C472Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C472Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	472	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.C689Y(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCAGCAGCTGCATTGCTGCC	0.582000													19	204					0	0	0.055883	0	0
BAGE2	85319	broad.mit.edu	37	21	11039168	11039168	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:11039168G>A	ENST00000470054.1	-	0	1035									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGACACTAAGGTTTCTAGTGG	0.408000													13	542					0	0	0.105934	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897071	29897071	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:29897071C>T	ENST00000308713.5	-	8	1736		c.e8-1		SEZ6L2_ENST00000537485.1_Splice_Site|SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.?(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCATCAGCCTGGGATGGAC	0.557000													19	78					0	0	0.175082	0	0
RYR1	6261	broad.mit.edu	37	19	38986924	38986924	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:38986924G>A	ENST00000355481.4	+	40	6749	c.6618G>A	c.(6616-6618)acG>acA	p.T2206T	RYR1_ENST00000360985.3_Silent_p.T2206T|RYR1_ENST00000359596.3_Silent_p.T2206T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2206	6 X approximate repeats.		T -> M (in MHS1; induces an increase sensitivity to caffeine; dbSNP:rs28934000).|T -> R (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCACGAGACGGTCATGGAGG	0.632000													4	127					0	0	0.021553	0	0
STARD13	90627	broad.mit.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000255486.4_Missense_Mutation_p.R272L|STARD13_ENST00000399365.3_Missense_Mutation_p.R162L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542000													15	156					2.61681e-11	3.2894e-11	0.119110	1	0
MYO1D	4642	broad.mit.edu	37	17	31105502	31105502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:31105502C>A	ENST00000318217.5	-	3	698	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	MYO1D_ENST00000394649.4_Nonsense_Mutation_p.E44*|MYO1D_ENST00000583621.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.E132*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	132	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.E132*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTTACCTTTCAACCTCTGCT	0.478000													35	119					5.04308e-16	7.02657e-16	0.086207	1	0
BEND2	139105	broad.mit.edu	37	X	18209221	18209221	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:18209221G>T	ENST00000380033.4	-	8	1320	c.1188C>A	c.(1186-1188)ggC>ggA	p.G396G	BEND2_ENST00000380030.3_Silent_p.G305G	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	396								p.G396G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCATTTGTGGGCCAGATTCTG	0.378000													60	86					1.13205e-32	2.01105e-32	0.139131	1	0
COL5A1	1289	broad.mit.edu	37	9	137658860	137658860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:137658860G>T	ENST00000371817.3	+	23	2562	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	716	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E716D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGGAGAGCCTGGCCCCC	0.652000													12	28					1.15088e-07	1.32154e-07	0.146539	1	0
MEPE	56955	broad.mit.edu	37	4	88767161	88767161	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:88767161G>C	ENST00000497649.2	+	6	1447	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	MEPE_ENST00000361056.3_Missense_Mutation_p.E381Q|MEPE_ENST00000395102.4_Missense_Mutation_p.E412Q|MEPE_ENST00000560249.1_Missense_Mutation_p.E268Q|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.E381Q|MEPE_ENST00000540395.1_Missense_Mutation_p.E268Q			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	381					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.E381Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACCCTCAAAAGAGAAAAGAAA	0.443000													21	89					0	0	0.204396	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	105					0	0	0.029380	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506336	178506336	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:178506336A>T	ENST00000315475.6	+	5	1209	c.903A>T	c.(901-903)cgA>cgT	p.R301R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301R(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCGTATCGATGTAGGGAAT	0.418000													33	225					0	0	0.163468	0	0
FHL5	9457	broad.mit.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:97063550G>T	ENST00000326771.2	+	7	1137	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	FHL5_ENST00000541107.1_Missense_Mutation_p.G253W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	253	LIM zinc-binding 4.					nucleus	zinc ion binding	p.G253W(2)|p.G253R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTTTAACTGCGGGAAATGCTC	0.458000													25	52					2.4375e-19	3.6307e-19	0.125774	1	0
CAMK2A	815	broad.mit.edu	37	5	149644579	149644579	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:149644579C>A	ENST00000348628.6	-	3	823		c.e3-1		CAMK2A_ENST00000398376.3_Splice_Site	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha						interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTGATGGTCTGAAACACAG	0.602000													15	73					2.32078e-09	2.7785e-09	0.132662	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173																											TTTTCTCTTCGGTGAGTAATC	0.388000													3	42					0	0	0.150653	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407714	105407714	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:105407714C>T	ENST00000333244.5	-	7	14193	c.14074G>A	c.(14074-14076)Gaa>Aaa	p.E4692K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4692						nucleus		p.E4692K(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTCCAACTTCTCCAACAGCA	0.413000													14	99					0	0	0.119110	0	0
FAM210A	125228	broad.mit.edu	37	18	13671873	13671873	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:13671873A>G	ENST00000322247.3	-	4	960	c.573T>C	c.(571-573)taT>taC	p.Y191Y	FAM210A_ENST00000588475.1_Intron|FAM210A_ENST00000402563.1_Silent_p.Y191Y	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	191	DUF1279.					integral to membrane											TAAACAAGGCATATGCTGTGA	0.463000													4	94					0	0	0.021553	0	0
ZNF680	340252	broad.mit.edu	37	7	63982636	63982636	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:63982636A>G	ENST00000309683.6	-	4	647	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F166L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAATTTGAAAATTTATGAAAG	0.299000													5	76					0	0	0.184627	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175884	40175884	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:40175884C>T	ENST00000307641.5	+	4	1170	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393881.3_Silent_p.N183N|NKIRAS2_ENST00000393880.1_Silent_p.N183N|NKIRAS2_ENST00000393884.2_Silent_p.N181N|NKIRAS2_ENST00000449471.4_Silent_p.N127N|NKIRAS2_ENST00000316082.4_Silent_p.N221N|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393885.4_Silent_p.N183N	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	183	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	p.N183N(2)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCCGGAAGAACAAGGGCAGCG	0.607000													34	63					0	0	0.183431	0	0
NUGGC	389643	broad.mit.edu	37	8	27888782	27888782	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:27888782T>C	ENST00000413272.2	-	15	2028	c.1886A>G	c.(1885-1887)aAa>aGa	p.K629R	NUGGC_ENST00000341513.6_Missense_Mutation_p.K629R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.K629R(4)									GAAATTTTTTTTGCAGCTATC	0.453000													33	162					0	0	0.080422	0	0
SCN1A	6323	broad.mit.edu	37	2	166896013	166896013	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:166896013C>A	ENST00000423058.2	-	14	2526	c.2509G>T	c.(2509-2511)Ggt>Tgt	p.G837C	SCN1A_ENST00000375405.3_Missense_Mutation_p.G826C|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.G837C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G809C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	837						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G837C(2)|p.G826C(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAATAAAACCGTCAAAGATA	0.363000													34	59					1.61788e-16	2.27256e-16	0.163468	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791250	50791250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:50791250C>A	ENST00000263046.4	+	3	405	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P71Q			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	71	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P71Q(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCCTACTTCCCACCCCCCTAC	0.682000													13	60					0.00185496	0.00193005	0.105934	1	0
PTPRD	5789	broad.mit.edu	37	9	8460541	8460541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:8460541G>T	ENST00000381196.4	-	30	4288	c.3745C>A	c.(3745-3747)Ccc>Acc	p.P1249T	PTPRD_ENST00000397611.3_Missense_Mutation_p.P835T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P828T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P838T|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1249T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1236T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P835T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1227T|PTPRD_ENST00000486161.1_Missense_Mutation_p.P838T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1249T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P828T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1249T(4)|p.P720T(2)|p.P838T(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACACCACGGGGTCGGAGTAA	0.433000										TSP Lung(15;0.13)			12	127					1.5842e-08	1.8634e-08	0.105934	1	0
SOX14	8403	broad.mit.edu	37	3	137483858	137483858	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:137483858C>A	ENST00000306087.1	+	1	280	c.232C>A	c.(232-234)Cga>Aga	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.R78R(2)		large_intestine(2)|lung(12)	14						CTACAAGTACCGACCTCGGCG	0.612000													22	112					1.22574e-08	1.44458e-08	0.069288	1	0
LELP1	149018	broad.mit.edu	37	1	153177368	153177368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:153177368C>A	ENST00000368747.1	+	2	295	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	62	Cys/Pro-rich.							p.P62H(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTGCCCCTCGCAGTCT	0.592000													21	150					9.04072e-19	1.32861e-18	0.183431	1	0
GJB1	2705	broad.mit.edu	37	X	70443680	70443680	+	Missense_Mutation	SNP	G	G	T	rs116840816		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:70443680G>T	ENST00000374022.3	+	2	218	c.123G>T	c.(121-123)gaG>gaT	p.E41D	GJB1_ENST00000361726.6_Missense_Mutation_p.E41D|GJB1_ENST00000374029.1_Missense_Mutation_p.E41D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	41			E -> K (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	p.E41D(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTGCAGAGAGTGTGTGGG	0.532000													33	40					3.11337e-16	4.358e-16	0.173368	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160273941	160273941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:160273941G>T	ENST00000264431.4	+	21	3906	c.3487G>T	c.(3487-3489)Gtg>Ttg	p.V1163L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1163	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.V1151L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTTGACTCAGTGCCAGTCTC	0.478000													39	146					3.78316e-11	4.72113e-11	0.086207	1	0
PRDM16	63976	broad.mit.edu	37	1	3328631	3328631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:3328631G>T	ENST00000378398.3	+	10	1955	c.1873G>T	c.(1873-1875)Gac>Tac	p.D625Y	PRDM16_ENST00000442529.2_Missense_Mutation_p.D624Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.D624Y|PRDM16_ENST00000514189.1_Missense_Mutation_p.D625Y|PRDM16_ENST00000270722.5_Missense_Mutation_p.D624Y|PRDM16_ENST00000511072.1_Missense_Mutation_p.D625Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.D624Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	624					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D624Y(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAG	0.677000			T	EVI1	"""MDS, AML"""								15	159					1.37285e-15	1.89532e-15	0.146539	1	0
USH2A	7399	broad.mit.edu	37	1	216051129	216051129	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:216051129C>T	ENST00000366943.2	-	43	9038	c.8652G>A	c.(8650-8652)caG>caA	p.Q2884Q	USH2A_ENST00000307340.3_Silent_p.Q2884Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2884	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q2884Q(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATAAAGCCACTGAGTTCCTG	0.383000										HNSCC(13;0.011)			171	352					0	0	0.139131	0	0
MEP1A	4224	broad.mit.edu	37	6	46806811	46806811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:46806811G>T	ENST00000230588.4	+	14	2188	c.2179G>T	c.(2179-2181)Gct>Tct	p.A727S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	727					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A727S(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGAGGCACGGCTGGCGTGAT	0.602000													68	252					1.20466e-24	1.93515e-24	0.139131	1	0
OR3A3	8392	broad.mit.edu	37	17	3324705	3324705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:3324705G>T	ENST00000291231.1	+	1	844	c.844G>T	c.(844-846)Ggg>Tgg	p.G282W		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G282W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAAGGATAAGGGGGTTGGGGT	0.507000													52	171					5.13769e-22	7.90615e-22	0.139131	1	0
BBS9	27241	broad.mit.edu	37	7	33545221	33545221	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:33545221G>A	ENST00000242067.6	+	20	2783	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	BBS9_ENST00000396127.2_Silent_p.A719A|BBS9_ENST00000355070.2_Silent_p.A749A|BBS9_ENST00000354265.4_Silent_p.A719A|BBS9_ENST00000350941.3_Silent_p.A714A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	754					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.A754A(4)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGGAAGCGGCATTTCTGC	0.498000									Bardet-Biedl syndrome				12	131					0	0	0.080935	0	0
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248059311C>G	ENST00000537741.1	+	3	680	c.423C>G	c.(421-423)tgC>tgG	p.C141W	OR2W3_ENST00000360358.3_Missense_Mutation_p.C141W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141W(2)|p.C141*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGCTCTGCCGGGGCTTGG	0.627000													33	129					0	0	0.183431	0	0
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:25835674G>T	ENST00000280701.3	+	3	1168	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	OXSM_ENST00000420173.2_Missense_Mutation_p.A274S	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453000													37	98					4.31865e-32	7.60485e-32	0.214465	1	0
FAM135B	51059	broad.mit.edu	37	8	139209901	139209901	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:139209901G>A	ENST00000395297.1	-	8	851	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	227								p.Y227Y(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGAGGTGATGTAGAAGCTTC	0.582000										HNSCC(54;0.14)			32	141					0	0	0.173368	0	0
OR6C6	283365	broad.mit.edu	37	12	55688351	55688351	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:55688351G>T	ENST00000358433.2	-	1	665	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T222T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTTCAGAATGGTCTTAATAA	0.398000													5	168					3.59834e-05	3.9125e-05	0.021553	1	0
SMOC1	64093	broad.mit.edu	37	14	70490078	70490078	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:70490078G>T	ENST00000381280.4	+	11	1458	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	SMOC1_ENST00000361956.3_Missense_Mutation_p.R402L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	402	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R402L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAATGTGCCCGGCGTTTCACC	0.527000													41	313					7.53189e-24	1.19717e-23	0.098360	1	0
VSTM2A	222008	broad.mit.edu	37	7	54612473	54612473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:54612473G>T	ENST00000302287.3	+	2	644	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	VSTM2A_ENST00000404951.1_Missense_Mutation_p.G80C|VSTM2A_ENST00000402026.2_Missense_Mutation_p.G79C|VSTM2A_ENST00000407838.3_Missense_Mutation_p.G80C|VSTM2A_ENST00000402613.3_Missense_Mutation_p.G80C			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	80	Ig-like V-type.					extracellular region		p.G80C(1)|p.G79C(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CGAGGGGGCCGGCGCGCAGGT	0.751000													9	18					3.86212e-05	4.19177e-05	0.069234	1	0
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:71114727G>C	ENST00000304954.3	+	4	186	c.100G>C	c.(100-102)Gat>Cat	p.D34H		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	34						extracellular region	protein binding	p.D34H(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATGAGAATGATGAAAGACC	0.308000													28	132					0	0	0.108266	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816575	80816575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:80816575G>T	ENST00000466387.1	+	19	2878	c.2154G>T	c.(2152-2154)atG>atT	p.M718I	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M397I|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M752I|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M718I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M718I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	718					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.M718I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAAGCAGATGTGTATGATCA	0.458000													23	112					1.36565e-18	2.00206e-18	0.076483	1	0
RGS22	26166	broad.mit.edu	37	8	101051202	101051202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:101051202T>C	ENST00000360863.6	-	14	2317	c.2123A>G	c.(2122-2124)tAc>tGc	p.Y708C	RGS22_ENST00000523287.1_Missense_Mutation_p.Y527C|RGS22_ENST00000523437.1_Missense_Mutation_p.Y696C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	708					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.Y708C(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTTTCTTGGTAGAAAAGCTG	0.358000													25	128					0	0	0.091800	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257955	114257955	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:114257955A>T	ENST00000306507.5	+	1	1295	c.1122A>T	c.(1120-1122)ggA>ggT	p.G374G		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	374					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G374G(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATCAGGAGGAGGACTGCGCC	0.687000													14	121					0	0	0.204396	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974501	129974501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:129974501G>T	ENST00000259351.5	+	15	1606	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	RALGPS1_ENST00000424082.2_Missense_Mutation_p.G405W|RALGPS1_ENST00000373434.1_Missense_Mutation_p.G405W	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	447	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G447W(2)|p.G405W(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAAGGAAGGGCGGAAGCC	0.592000													10	77					0.00829132	0.00852418	0.069234	1	0
NDST3	9348	broad.mit.edu	37	4	119158234	119158234	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:119158234C>A	ENST00000296499.5	+	10	2380	c.1977C>A	c.(1975-1977)gtC>gtA	p.V659V	NDST3_ENST00000433996.2_3'UTR	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	659	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.V659V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATCTAATGTCACTACCGACT	0.393000													25	81					9.57634e-11	1.18406e-10	0.083992	1	0
IL25	64806	broad.mit.edu	37	14	23842476	23842476	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:23842476A>G	ENST00000329715.2	+	1	407	c.149A>G	c.(148-150)gAg>gGg	p.E50G	IL25_ENST00000397242.2_Missense_Mutation_p.E34G	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	50					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	p.E50G(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACCTCTGAGGAGCTGCTGAGG	0.612000													15	112					0	0	0.132662	0	0
COBL	23242	broad.mit.edu	37	7	51111277	51111277	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:51111277C>A	ENST00000395542.2	-	10	1639	c.1455G>T	c.(1453-1455)acG>acT	p.T485T	COBL_ENST00000265136.7_Silent_p.T403T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	403								p.T403T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGTCCTCGGTCGTGTCCTCCG	0.607000													55	118					4.65455e-14	6.23359e-14	0.139131	1	0
ERN2	10595	broad.mit.edu	37	16	23713521	23713521	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:23713521T>C	ENST00000256797.4	-	11	1467	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	ERN2_ENST00000457008.2_Silent_p.A385A	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	385					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.A433A(2)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTCTTGTCTCTGCAGTTCCAC	0.622000													82	231					0	0	0.139131	0	0
GPR63	81491	broad.mit.edu	37	6	97247592	97247592	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:97247592C>A	ENST00000229955.3	-	2	361	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	GPR63_ENST00000417980.1_Missense_Mutation_p.V6L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	6						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V6L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCAGTCAACACTGCCGAGAAG	0.463000													30	96					8.16721e-17	1.15527e-16	0.153744	1	0
NID1	4811	broad.mit.edu	37	1	236195859	236195859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:236195859G>T	ENST00000264187.6	-	6	1461	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NID1_ENST00000366595.3_Missense_Mutation_p.S460Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	460	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S460Y(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TACTACGTAAGAGTGGAGGTC	0.552000													36	107					6.05902e-23	9.51794e-23	0.193644	1	0
MAN2C1	4123	broad.mit.edu	37	15	75650895	75650895	+	Missense_Mutation	SNP	C	C	T	rs150018240		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:75650895C>T	ENST00000565683.1	-	20	2373	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	MAN2C1_ENST00000563622.1_Missense_Mutation_p.A672T|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A771T|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A771T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	771					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.A771T(2)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGAACCAGGCGCTGCCCCGC	0.647000													22	95					0	0	0.083992	0	0
CAMK4	814	broad.mit.edu	37	5	110730473	110730473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:110730473C>A	ENST00000282356.4	+	5	850	c.452C>A	c.(451-453)gCa>gAa	p.A151E	CAMK4_ENST00000512453.1_Missense_Mutation_p.A151E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	151	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A151E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCCTGGAGGCAGTTGCTGTA	0.408000													22	98					3.10358e-05	3.38369e-05	0.069288	1	0
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:88057031C>A	ENST00000504921.2	-	4	1045	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000514015.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000437473.2_Missense_Mutation_p.D125Y|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000340208.5_Intron			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453000										HNSCC(66;0.2)			46	177					2.65591e-33	4.74607e-33	0.139131	1	0
PTPRF	5792	broad.mit.edu	37	1	44084819	44084819	+	Missense_Mutation	SNP	G	G	A	rs70937045		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:44084819G>A	ENST00000359947.4	+	27	4932	c.4592G>A	c.(4591-4593)cGa>cAa	p.R1531Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R890Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1531Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1531	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R1521Q(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTCCTACGACGGGTCAAG	0.627000													13	61					0	0	0.093190	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814424	106814424	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:106814424A>G	ENST00000407775.2	+	8	2364	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H436R|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	705					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.H705R(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACATGGTCCACAAACAGTAT	0.517000													35	68					0	0	0.086207	0	0
USP8	9101	broad.mit.edu	37	15	50741619	50741619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:50741619G>T	ENST00000433963.1	+	5	772	c.272G>T	c.(271-273)gGa>gTa	p.G91V	USP8_ENST00000307179.4_Missense_Mutation_p.G91V|USP8_ENST00000396444.3_Missense_Mutation_p.G91V|USP8_ENST00000425032.3_Intron	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	91	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G91V(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCAATACTTGGACCTGGAAAC	0.303000													13	36					9.16793e-09	1.08259e-08	0.160694	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774234	140774234	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140774234G>C	ENST00000398604.2	+	1	1854	c.1854G>C	c.(1852-1854)tcG>tcC	p.S618S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1												p.S618S(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.682000													12	64					0	0	0.189662	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945446	48945446	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:48945446T>A	ENST00000263269.3	+	12	2568	c.2480T>A	c.(2479-2481)aTc>aAc	p.I827N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	827						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.I827N(2)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTCTCTGGGATCTGCCACAAT	0.567000													54	125					0	0	0.139131	0	0
OTOF	9381	broad.mit.edu	37	2	26696880	26696880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:26696880C>A	ENST00000272371.2	-	27	3513	c.3387G>T	c.(3385-3387)gtG>gtT	p.V1129V	OTOF_ENST00000403946.3_Silent_p.V1129V|OTOF_ENST00000338581.6_Silent_p.V382V|OTOF_ENST00000402415.3_Silent_p.V439V|OTOF_ENST00000339598.3_Silent_p.V382V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1129					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.V439V(2)|p.V1129V(2)|p.V382V(2)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGCTGAGCACGGGCCGGA	0.642000													38	108					1.07637e-12	1.39662e-12	0.214465	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854254	178854254	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:178854254G>C	ENST00000367635.3	+	12	1286	c.948G>C	c.(946-948)gtG>gtC	p.V316V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Silent_p.V316V|RALGPS2_ENST00000324778.4_Silent_p.V281V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	316					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAAAAGTGTGGCAGCTGAAG	0.448000													37	79					0	0	0.203993	0	0
ESR2	2100	broad.mit.edu	37	14	64699947	64699947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:64699947G>A	ENST00000341099.4	-	9	1918	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.R410C|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000542956.1_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	501	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R501C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTGCACCCGCGAAGCACGTGG	0.562000													6	190					0	0	0.021553	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136969	108136969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:108136969G>T	ENST00000374720.3	+	13	1832	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	SLC44A1_ENST00000374723.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V321L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	529						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.V529L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTTTGCGAGTGGCTACCAT	0.393000													53	173					9.53978e-28	1.60279e-27	0.139131	1	0
GABRB1	2560	broad.mit.edu	37	4	47427876	47427876	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:47427876G>T	ENST00000295454.3	+	9	1558	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	GABRB1_ENST00000538619.1_Silent_p.G352G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	422					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G422G(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCGGCACGGGGTACCCAGCA	0.627000													41	127					2.58029e-29	4.40252e-29	0.111260	1	0
POLQ	10721	broad.mit.edu	37	3	121209249	121209249	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:121209249C>A	ENST00000264233.5	-	16	2657	c.2529G>T	c.(2527-2529)cgG>cgT	p.R843R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	843					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R978R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCACTGCCTTCCGGGCACTAC	0.443000								DNA polymerases (catalytic subunits)					54	151					9.72345e-25	1.56612e-24	0.139131	1	0
CSMD1	64478	broad.mit.edu	37	8	2967787	2967787	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:2967787C>A	ENST00000520002.1	-	44	7059	c.6504G>T	c.(6502-6504)ccG>ccT	p.P2168P	CSMD1_ENST00000537824.1_Silent_p.P2167P|CSMD1_ENST00000602723.1_Silent_p.P2168P|CSMD1_ENST00000400186.3_Silent_p.P2168P|CSMD1_ENST00000542608.1_Silent_p.P2167P|CSMD1_ENST00000602557.1_Silent_p.P2168P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2168	CUB 13.					integral to membrane		p.P2167P(2)|p.P1896P(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCAGGATCGGATACTCAT	0.502000													6	29					0.0215528	0.0219156	0.021553	1	0
C22orf42	150297	broad.mit.edu	37	22	32550243	32550243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:32550243G>T	ENST00000382097.3	-	2	367	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	99								p.L99I(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATATTTTCTAGAGGCCAAATC	0.378000													53	125					1.77791e-30	3.08138e-30	0.139131	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951975	119951975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:119951975G>T	ENST00000307142.4	+	4	2241	c.2045G>T	c.(2044-2046)gGa>gTa	p.G682V	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G682V|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G682V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	682						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.G682V(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAAGAACAGGAATATTGCAG	0.498000													14	97					1.52009e-12	1.96183e-12	0.132662	1	0
CNGB3	54714	broad.mit.edu	37	8	87645122	87645122	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:87645122C>A	ENST00000320005.5	-	11	1226		c.e11-1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCAGATACCTGTGAAAACA	0.303000													35	81					6.29468e-14	8.37443e-14	0.214465	1	0
GRM8	2918	broad.mit.edu	37	7	126173694	126173694	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:126173694G>T	ENST00000339582.2	-	9	2550	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	GRM8_ENST00000444921.2_Missense_Mutation_p.S581Y|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S581Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	581					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S581Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCCAGGGAGAATGCCACTC	0.512000										HNSCC(24;0.065)			5	107					3.59834e-05	3.9125e-05	0.021553	1	0
MECOM	2122	broad.mit.edu	37	3	169099225	169099225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:169099225T>C	ENST00000494292.1	-	2	222	c.125A>G	c.(124-126)aAt>aGt	p.N42S	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	42							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCTTGAATATTGAGGGAGGG	0.463000													5	102					0	0	0.184627	0	0
CDH12	1010	broad.mit.edu	37	5	21765146	21765146	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:21765146G>A	ENST00000382254.1	-	12	2542	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.P486S|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.P446S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	486	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P486S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTCTGGAGGAAATTCATTT	0.338000										HNSCC(59;0.17)			14	244					0	0	0.132662	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337510	22337510	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22337510C>A	ENST00000390436.2	+	0	324																											AGAGACCCAACCTGAAGACTC	0.493000													39	100					5.71845e-15	7.78792e-15	0.080422	1	0
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:37026967G>C	ENST00000358047.3	+	1	536	c.484G>C	c.(484-486)Gca>Cca	p.A162P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTGGAGGACGCAGGCTCTTG	0.582000													17	41					0	0	0.146539	0	0
OR2B11	127623	broad.mit.edu	37	1	247614463	247614463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247614463C>A	ENST00000318749.6	-	1	845	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q274H(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAAATTTGCCCTGCTCTTGGG	0.493000													94	370					5.88579e-26	9.60815e-26	0.139131	1	0
GPR132	29933	broad.mit.edu	37	14	105518393	105518393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:105518393G>T	ENST00000329797.3	-	4	992	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GPR132_ENST00000539291.2_Silent_p.G27G|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.G18G	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	27					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G27G(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGGCGGAGAGGCCCAGGGAGG	0.637000													52	128					3.07002e-29	5.23072e-29	0.139131	1	0
KIAA1468	57614	broad.mit.edu	37	18	59942667	59942667	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:59942667T>A	ENST00000256858.6	+	23	3278	c.3030T>A	c.(3028-3030)acT>acA	p.T1010T	KIAA1468_ENST00000398130.2_Silent_p.T976T			Q9P260	K1468_HUMAN	KIAA1468	976							binding	p.T976T(2)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGTCCATACTTCAGCACTCG	0.363000													25	93					0	0	0.134883	0	0
DLL3	10683	broad.mit.edu	37	19	39989617	39989617	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:39989617G>T	ENST00000205143.4	+	1	10	c.3G>T	c.(1-3)atG>atT	p.M1I	DLL3_ENST00000356433.5_Start_Codon_SNP_p.M1I|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	1					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.M1I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAAGGCCATGGTCTCCCCAC	0.642000													65	148					2.10938e-32	3.73079e-32	0.139131	1	0
KRT5	3852	broad.mit.edu	37	12	52910579	52910579	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:52910579A>G	ENST00000252242.4	-	7	1671	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	427	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.D427D(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCCTGGCATCCTTGAGGG	0.617000													102	107					0	0	0.139131	0	0
JMY	133746	broad.mit.edu	37	5	78610543	78610543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:78610543G>T	ENST00000396137.4	+	9	2990	c.2528G>T	c.(2527-2529)aGa>aTa	p.R843I	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	843					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.R489I(2)|p.R843I(2)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GATCTGCCTAGAAAGGAGGGG	0.592000													28	80					1.88708e-17	2.70736e-17	0.134883	1	0
ATP1B4	23439	broad.mit.edu	37	X	119512560	119512560	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:119512560A>G	ENST00000218008.3	+	7	901	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.I239V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.I278V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	282					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.I278V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CATCCGATCCATCAGTTACTA	0.478000													110	147					0	0	0.139131	0	0
RYR2	6262	broad.mit.edu	37	1	237798280	237798280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:237798280G>A	ENST00000366574.2	+	44	7097	c.6780G>A	c.(6778-6780)ccG>ccA	p.P2260P	RYR2_ENST00000542537.1_Silent_p.P2244P|RYR2_ENST00000360064.6_Silent_p.P2258P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2260	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P2258P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGTGAGCCGGATCTAGAAA	0.423000													3	25					0	0	0.115264	0	0
ATP2B3	492	broad.mit.edu	37	X	152814180	152814180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:152814180G>A	ENST00000370186.1	+	8	1490	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*	ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.W388*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	402					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.W402*(6)|p.W388*(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGACATGGCTGGCAGAGT	0.562000													12	80					0	0	0.105934	0	0
USP54	159195	broad.mit.edu	37	10	75290091	75290091	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:75290091C>T	ENST00000339859.4	-	13	1738	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Silent_p.R546R|USP54_ENST00000428547.1_Silent_p.R396R|USP54_ENST00000319786.7_Silent_p.R546R			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	546					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R546R(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGGCAGGGTCCTAGGAGGTT	0.507000													20	122					0	0	0.055883	0	0
SAMHD1	25939	broad.mit.edu	37	20	35540928	35540928	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:35540928G>A	ENST00000262878.4	-	10	1289	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.H149Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	364					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.H364Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGCGAGTGTGGAACATGTCA	0.328000													28	66					0	0	0.144211	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301896	139301896	+	Silent	SNP	G	G	A	rs3841201		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:139301896G>A	ENST00000298537.7	-	4	662	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	SDCCAG3_ENST00000357365.3_Silent_p.L174L|SDCCAG3_ENST00000371725.3_Silent_p.L101L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	174						cytoplasm		p.L174L(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCTCATCCAGGAGGTCACCA	0.647000													9	32					0	0	0.047766	0	0
APOB	338	broad.mit.edu	37	2	21239499	21239499	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:21239499G>T	ENST00000233242.1	-	21	3271	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1048					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1048T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAATGTCATGGTAGCCTCAG	0.468000													15	92					8.28177e-16	1.14729e-15	0.189662	1	0
GANAB	23193	broad.mit.edu	37	11	62398602	62398602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:62398602C>A	ENST00000346178.4	-	11	1131	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	GANAB_ENST00000356638.3_Missense_Mutation_p.Q350H|GANAB_ENST00000540933.1_Missense_Mutation_p.Q253H|GANAB_ENST00000534779.1_Missense_Mutation_p.Q258H	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	350					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.Q350H(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAACATCTGTCTGTGGGGTCT	0.547000													194	619					3.33532e-74	6.55132e-74	0.139131	1	0
FCRLA	84824	broad.mit.edu	37	1	161680698	161680698	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:161680698C>A	ENST00000367959.2	+	3	539	c.297C>A	c.(295-297)tcC>tcA	p.S99S	FCRLA_ENST00000309691.6_Silent_p.S76S|FCRLA_ENST00000236938.6_Silent_p.S93S|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367949.2_Silent_p.S93S|FCRLA_ENST00000367950.1_Silent_p.S53S|FCRLA_ENST00000367953.3_Silent_p.S82S|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000349527.4_Silent_p.S76S|FCRLA_ENST00000546024.1_Silent_p.S93S|FCRLA_ENST00000540926.1_Silent_p.S82S|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000294796.4_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGATTGTGTCCTATGGTGAGG	0.552000													35	174					1.07637e-12	1.39662e-12	0.214465	1	0
OR6C1	390321	broad.mit.edu	37	12	55714510	55714510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:55714510C>A	ENST00000379668.2	+	1	165	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43I(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAACCTGACCCTTATCACAAT	0.423000													70	83					1.46168e-27	2.44897e-27	0.139131	1	0
RPGR	6103	broad.mit.edu	37	X	38146246	38146246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:38146246C>A	ENST00000378505.2	-	15	2182	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	658	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.W669L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cTCATCTTGCCAGTGTTCTGC	0.532000													95	117					2.68325e-40	4.96381e-40	0.139131	1	0
BLOC1S4	55330	broad.mit.edu	37	4	6718442	6718442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:6718442C>T	ENST00000320776.3	+	1	601	c.506C>T	c.(505-507)gCg>gTg	p.A169V		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino									p.A169V(2)									TTCCCCAGGGCGTTCAAGAAG	0.657000													10	60					0	0	0.069234	0	0
MUC16	94025	broad.mit.edu	37	19	9047921	9047921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:9047921G>T	ENST00000397910.4	-	5	33913	c.33710C>A	c.(33709-33711)tCa>tAa	p.S11237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11239	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6870*(2)|p.S11237*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGACCCATGAGTCTATGGT	0.483000													13	25					4.3838e-07	4.9631e-07	0.105934	1	0
THSD7A	221981	broad.mit.edu	37	7	11582602	11582602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:11582602C>A	ENST00000423059.3	-	5	1847	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	532	TSP type-1 5.					integral to membrane		p.Q532H(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTCCCTTGCTGATCATTAC	0.388000										HNSCC(18;0.044)			25	60					7.07758e-08	8.16592e-08	0.099896	1	0
MYO16	23026	broad.mit.edu	37	13	109793613	109793613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:109793613C>A	ENST00000356711.2	+	32	5113	c.4987C>A	c.(4987-4989)Ccc>Acc	p.P1663T	MYO16_ENST00000357550.2_Missense_Mutation_p.P1663T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1663	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.P1663T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTACAGCCCTCCCAGCTCCAG	0.667000													5	17					0.014758	0.0150571	0.184627	1	0
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:154490316G>T	ENST00000369454.3	-	2	714	c.414C>A	c.(412-414)gcC>gcA	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488000													61	57					3.37043e-27	5.57737e-27	0.139131	1	0
PAQR9	344838	broad.mit.edu	37	3	142681802	142681802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:142681802G>T	ENST00000340634.3	-	1	376	c.377C>A	c.(376-378)gCg>gAg	p.A126E	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	126						integral to membrane	receptor activity	p.A126E(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACTCCCGACGCGTAGCACCA	0.652000													12	34					2.32078e-09	2.7785e-09	0.132662	1	0
ASB15	142685	broad.mit.edu	37	7	123257664	123257664	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:123257664C>A	ENST00000451558.1	+	9	845	c.324C>A	c.(322-324)acC>acA	p.T108T	ASB15_ENST00000540573.1_Silent_p.T108T|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Silent_p.T108T|ASB15_ENST00000434204.1_Silent_p.T108T|ASB15_ENST00000275699.3_Silent_p.T108T			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATTCAAGACCTGTGATGGAG	0.388000													64	153					1.08321e-29	1.85605e-29	0.139131	1	0
RICTOR	253260	broad.mit.edu	37	5	39021164	39021164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:39021164C>A	ENST00000357387.3	-	3	202	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G58C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	58					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G58C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCAGATGGCCTAGCTTTCTC	0.328000													50	280					4.17463e-26	6.82402e-26	0.139131	1	0
HCN1	348980	broad.mit.edu	37	5	45262703	45262703	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:45262703G>A	ENST00000303230.4	-	8	2050	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	665						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TACACCGGTGGAGATTGTGTC	0.577000													5	155					0	0	0.184627	0	0
ZNF292	23036	broad.mit.edu	37	6	87966098	87966098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:87966098G>T	ENST00000369577.3	+	8	2794	c.2751G>T	c.(2749-2751)ttG>ttT	p.L917F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L912F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L917F(2)|p.L772F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACCATTGTCAAATGGTT	0.443000													43	92					1.02687e-29	1.76201e-29	0.131918	1	0
VCAN	1462	broad.mit.edu	37	5	82837202	82837202	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:82837202G>C	ENST00000265077.3	+	8	8945	c.8380G>C	c.(8380-8382)Gag>Cag	p.E2794Q	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1807Q|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2794	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2794Q(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTGTAACAGAGGTGCCTGA	0.433000													24	296					0	0	0.091800	0	0
GARNL3	84253	broad.mit.edu	37	9	130101923	130101923	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:130101923G>A	ENST00000373387.4	+	13	1380		c.e13-1		GARNL3_ENST00000314904.5_Splice_Site|GARNL3_ENST00000435213.2_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCTCTACTTAGGCTGAAAATA	0.438000													20	156					0	0	0.189662	0	0
SRGAP2	23380	broad.mit.edu	37	1	206611329	206611329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:206611329C>T	ENST00000414007.1	+	12	1229	c.1229C>T	c.(1228-1230)gCt>gTt	p.A410V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	550					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.A410V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GACCCCCTGGCTGGGGACCAG	0.542000													31	228					0	0	0.193644	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486483	76486483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:76486483C>A	ENST00000307431.8	+	9	1532	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTAGCACTGCCAGACTTCTC	0.428000													38	148					2.40579e-17	3.43522e-17	0.086207	1	0
GTPBP3	84705	broad.mit.edu	37	19	17448878	17448878	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:17448878C>G	ENST00000324894.8	+	2	183	c.115C>G	c.(115-117)Cta>Gta	p.L39V	GTPBP3_ENST00000361619.5_Missense_Mutation_p.L61V|GTPBP3_ENST00000358792.7_Missense_Mutation_p.L39V|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.L39V	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	39					tRNA modification	mitochondrion	GTP binding|GTPase activity	p.L39V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CATCTTCGCGCTAAGCTCTGG	0.716000													9	50					0	0	0.058154	0	0
HEATR5A	25938	broad.mit.edu	37	14	31778370	31778370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:31778370G>T	ENST00000543095.2	-	29	4644	c.4460C>A	c.(4459-4461)gCa>gAa	p.A1487E	HEATR5A_ENST00000439348.1_Missense_Mutation_p.A1481E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A1194E|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A1481E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1481							binding	p.A1481E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTAGTCTCTGCTGTGTAGAA	0.368000													59	142					4.88506e-25	7.88923e-25	0.139131	1	0
CAMTA1	23261	broad.mit.edu	37	1	7700548	7700548	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:7700548A>G	ENST00000303635.7	+	7	806	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N200S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.N200S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCTCCATCAACACCGACAAG	0.627000			T	WWTR1	epitheliod hemangioendothelioma								6	168					0	0	0.029380	0	0
FBN2	2201	broad.mit.edu	37	5	127648343	127648343	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:127648343C>T	ENST00000508053.1	-	43	5836	c.4862G>A	c.(4861-4863)tGc>tAc	p.C1621Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C1621Y			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.C1621Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGGGGGGCATGTCTCACA	0.512000													14	691					0	0	0.132662	0	0
FSIP2	401024	broad.mit.edu	37	2	186672293	186672293	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:186672293C>A	ENST00000343098.5	+	17	18527	c.18527C>A	c.(18526-18528)tCt>tAt	p.S6176Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6087Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.S785Y(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGGTTCAGTCTGTTTATAAT	0.333000													51	132					1.86633e-21	2.86108e-21	0.139131	1	0
CCDC136	64753	broad.mit.edu	37	7	128450286	128450286	+	Missense_Mutation	SNP	C	C	A	rs116868322	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:128450286C>A	ENST00000297788.4	+	12	2261	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	632						integral to membrane	protein binding	p.Q632K(4)|p.Q748K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACAGAACCAAGACTGTGT	0.468000													16	28					3.45872e-05	3.76748e-05	0.146539	1	0
ACSL1	2180	broad.mit.edu	37	4	185697670	185697670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:185697670C>A	ENST00000515030.1	-	7	1049	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ACSL1_ENST00000513317.1_Missense_Mutation_p.G242W|ACSL1_ENST00000507295.1_Missense_Mutation_p.G208W|ACSL1_ENST00000281455.2_Missense_Mutation_p.G242W|ACSL1_ENST00000504900.1_Missense_Mutation_p.G242W|ACSL1_ENST00000454703.2_Missense_Mutation_p.G71W|ACSL1_ENST00000437665.3_Missense_Mutation_p.G71W|ACSL1_ENST00000504342.1_Missense_Mutation_p.G242W			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	242					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G242W(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTTCCACCCCACACCTCTGG	0.522000													37	179					4.62619e-21	7.06503e-21	0.203993	1	0
CHD5	26038	broad.mit.edu	37	1	6173020	6173020	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:6173020G>A	ENST00000262450.3	-	34	5050	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	CHD5_ENST00000378021.1_Silent_p.L508L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1651					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L1651L(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCAGCTCCAGCTTGTCCAGG	0.577000													18	167					0	0	0.189662	0	0
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:86838537C>A	ENST00000441037.2	+	16	2229	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R	AGBL1_ENST00000421325.2_Silent_p.R712R|AGBL1_ENST00000389298.3_Silent_p.R443R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468000													36	85					6.50621e-10	7.87525e-10	0.173368	1	0
CSMD3	114788	broad.mit.edu	37	8	113988292	113988292	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113988292G>T	ENST00000297405.5	-	7	1360	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.S372R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S332R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	372						integral to membrane|plasma membrane		p.S372R(2)|p.S332R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCAGGTGTGCTAGCAACAG	0.483000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	175					5.77227e-19	8.51392e-19	0.134883	1	0
TRIB2	28951	broad.mit.edu	37	2	12880889	12880889	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:12880889T>A	ENST00000155926.4	+	3	2420	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198K	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACGTCAACATGGAAGAGAAC	0.512000													15	75					0	0	0.146539	0	0
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:141734530G>T	ENST00000475668.2	+	16	1902	c.1848G>T	c.(1846-1848)gcG>gcT	p.A616A	MGAM_ENST00000549489.2_Silent_p.A616A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	616	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A616A(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCTTTGCGGGCTCTGGCA	0.498000													10	96					1.33987e-11	1.69839e-11	0.069234	1	0
AGL	178	broad.mit.edu	37	1	100336081	100336081	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:100336081G>T	ENST00000294724.4	+	6	1268	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	AGL_ENST00000370161.2_Missense_Mutation_p.G248W|AGL_ENST00000361522.4_Missense_Mutation_p.G247W|AGL_ENST00000361302.3_Missense_Mutation_p.G248W|AGL_ENST00000370163.3_Missense_Mutation_p.G264W|AGL_ENST00000370165.3_Missense_Mutation_p.G264W|AGL_ENST00000361915.3_Missense_Mutation_p.G264W	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	264					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.G264W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTGCAGAAGGGAAATACAA	0.383000													24	94					9.86323e-18	1.42351e-17	0.091800	1	0
G2E3	55632	broad.mit.edu	37	14	31077153	31077153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:31077153G>T	ENST00000206595.6	+	12	1532	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	G2E3_ENST00000438909.2_Missense_Mutation_p.G414C|G2E3_ENST00000553504.1_Missense_Mutation_p.G490C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	460	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.G460C(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTAGTTCACGGTGGTCCTTC	0.348000													18	113					9.7654e-05	0.000105139	0.189662	1	0
PHACTR3	116154	broad.mit.edu	37	20	58348406	58348406	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:58348406C>T	ENST00000371015.1	+	6	1291	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PHACTR3_ENST00000359926.3_Missense_Mutation_p.P272L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P234L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P234L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P234L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P164L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	275						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P275L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCTCCACACCCACGGGGTCT	0.662000													20	181					0	0	0.204396	0	0
KAT6B	23522	broad.mit.edu	37	10	76736089	76736089	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:76736089G>T	ENST00000287239.4	+	8	2482		c.e8+1		KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B						histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.?(2)									CAGGATGATGGTAAGCAAAAG	0.473000													21	97					4.96729e-08	5.75862e-08	0.204396	1	0
ZAN	7455	broad.mit.edu	37	7	100348394	100348394	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:100348394G>A	ENST00000542585.1	+	0	1544				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TACTATGCTCGAACTCCTCCT	0.622000													4	48					0	0	0.150653	0	0
STIM1	6786	broad.mit.edu	37	11	4104157	4104157	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:4104157C>T	ENST00000300737.4	+	9	1752	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y	STIM1_ENST00000533977.1_Missense_Mutation_p.H222Y|STIM1_ENST00000527651.1_Missense_Mutation_p.H395Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	395					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.H395Y(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGCACCTTCCACGTGGCCCA	0.433000													37	89					0	0	0.092188	0	0
SYNE1	23345	broad.mit.edu	37	6	152763330	152763330	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:152763330G>T	ENST00000367255.5	-	31	4489	c.3888C>A	c.(3886-3888)atC>atA	p.I1296I	SYNE1_ENST00000265368.4_Silent_p.I1296I|SYNE1_ENST00000367248.3_Silent_p.I1286I|SYNE1_ENST00000448038.1_Silent_p.I1303I|SYNE1_ENST00000413186.2_Silent_p.I1296I|SYNE1_ENST00000341594.5_Silent_p.I1362I|SYNE1_ENST00000367253.4_Silent_p.I1296I|SYNE1_ENST00000423061.1_Silent_p.I1303I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I1296I(4)|p.I1303I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCTGCGCGATCTGCTGCT	0.557000										HNSCC(10;0.0054)			51	97					4.1673e-28	7.03087e-28	0.139131	1	0
GSTZ1	2954	broad.mit.edu	37	14	77791214	77791214	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:77791214C>T	ENST00000216465.5	+	2	302	c.15_splice	c.e2-1	p.P6_splice	GSTZ1_ENST00000349555.3_Splice_Site_p.P6_splice|GSTZ1_ENST00000557053.1_Intron|GSTZ1_ENST00000556627.1_Splice_Site_p.P6_splice|GSTZ1_ENST00000554279.1_Splice_Site_p.P6_splice|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000553586.1_Splice_Site_p.P7_splice|GSTZ1_ENST00000557639.1_Intron|GSTZ1_ENST00000393734.1_5'UTR	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	6	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TCTCCTCAGCCCATCCTCTAT	0.562000													8	123					0	0	0.058154	0	0
JRK	8629	broad.mit.edu	37	8	143746065	143746065	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:143746065C>G	ENST00000507178.2	-	0	1745									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tcctggtcagcttttggagtc	0.667000													4	8					0	0	0.021553	0	0
CNOT1	23019	broad.mit.edu	37	16	58616700	58616700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:58616700T>A	ENST00000317147.5	-	10	1373	c.1041A>T	c.(1039-1041)gaA>gaT	p.E347D	CNOT1_ENST00000441024.2_Missense_Mutation_p.E347D|CNOT1_ENST00000569240.1_Missense_Mutation_p.E347D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	347					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E347D(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTCACCAGTTCTTTAAGAA	0.383000													30	131					0	0	0.173368	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605956	13605956	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:13605956A>G	ENST00000040738.5	-	10	2703	c.2568T>C	c.(2566-2568)ggT>ggC	p.G856G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	856	Lys-rich.						DNA binding	p.G856G(2)									GTTGCTTGGAACCCAGAGAAT	0.368000													10	82					0	0	0.058154	0	0
FUT8	2530	broad.mit.edu	37	14	66135974	66135974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:66135974G>C	ENST00000360689.5	+	7	2338	c.611G>C	c.(610-612)tGc>tCc	p.C204S	FUT8_ENST00000394585.1_Missense_Mutation_p.C204S|FUT8_ENST00000358307.2_Missense_Mutation_p.C75S|FUT8_ENST00000557164.1_Missense_Mutation_p.C41S|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.C204S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	204					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.C204S(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCAAGGACTGCAGCAAAGCC	0.408000													33	56					0	0	0.173368	0	0
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:78959150G>C	ENST00000370756.3	+	2	959	c.722G>C	c.(721-723)aGa>aCa	p.R241T	PTGFR_ENST00000370758.1_Missense_Mutation_p.R241T|PTGFR_ENST00000370757.3_Missense_Mutation_p.R241T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	241					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R241T(4)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423000													39	114					0	0	0.214465	0	0
MLYCD	23417	broad.mit.edu	37	16	83933047	83933047	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:83933047G>T	ENST00000262430.4	+	1	317	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C		NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	100					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	p.G100C(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CGTGGACCACGGCCAGGTGGC	0.746000													5	10					1.23904e-05	1.35946e-05	0.184627	1	0
OR2C3	81472	broad.mit.edu	37	1	247695356	247695356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247695356C>A	ENST00000366487.3	-	2	819	c.458G>T	c.(457-459)gGt>gTt	p.G153V	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTGGTCAGACCCCCCAGCCA	0.562000													18	52					0.00498961	0.00514726	0.160694	1	0
FREM1	158326	broad.mit.edu	37	9	14784421	14784421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:14784421C>A	ENST00000380881.4	-	25	5207	c.4392G>T	c.(4390-4392)caG>caT	p.Q1464H	FREM1_ENST00000380880.3_Missense_Mutation_p.Q1463H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q1463H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1463					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q1464H(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAAACTGTCTGCCCCACTA	0.458000													42	86					2.47872e-24	3.96071e-24	0.117977	1	0
NLRP14	338323	broad.mit.edu	37	11	7092508	7092508	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:7092508A>T	ENST00000299481.4	+	12	3597	c.3251A>T	c.(3250-3252)gAa>gTa	p.E1084V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1084					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E1084V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCATAATGAAGAAGATGTG	0.363000													7	122					0	0	0.038147	0	0
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:21631013C>T	ENST00000328843.6	+	14	2516	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R829C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R829C(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAGTTGAGCGCACACAGAA	0.607000									Kartagener syndrome				14	93					0	0	0.119110	0	0
CCNO	10309	broad.mit.edu	37	5	54527229	54527229	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:54527229A>G	ENST00000282572.4	-	3	1183	c.1027T>C	c.(1027-1029)Tgc>Cgc	p.C343R		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	343					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	p.C343R(1)		endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GGCAGGCTGCACTTCTCGCAG	0.567000													28	95					0	0	0.134883	0	0
ITIH2	3698	broad.mit.edu	37	10	7773794	7773794	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:7773794C>A	ENST00000358415.4	+	13	1648	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	ITIH2_ENST00000379587.4_Silent_p.S483S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	494					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S494S(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCAGGTCTCCACTCCATTGC	0.373000													16	173					1.96292e-10	2.40488e-10	0.055883	1	0
LTB4R	1241	broad.mit.edu	37	14	24785583	24785583	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:24785583G>A	ENST00000396789.4	+	2	2451	c.726G>A	c.(724-726)ctG>ctA	p.L242L	LTB4R_ENST00000396782.2_Silent_p.L242L|LTB4R_ENST00000345363.3_Silent_p.L242L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	242					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	p.L242L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGGTGAACCTGGCTGAGGCGG	0.736000													8	23					0	0	0.047766	0	0
MUSK	4593	broad.mit.edu	37	9	113563158	113563158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:113563158C>A	ENST00000416899.2	+	13	2602	c.2476C>A	c.(2476-2478)Ctc>Atc	p.L826I	MUSK_ENST00000374448.4_Missense_Mutation_p.L834I|MUSK_ENST00000189978.5_Missense_Mutation_p.L834I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	834	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L834I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTGTACAATCTCATGCGTCT	0.542000													21	61					7.4402e-23	1.16573e-22	0.091800	1	0
CREB3L2	64764	broad.mit.edu	37	7	137600584	137600584	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:137600584C>A	ENST00000330387.6	-	3	845	c.495_splice	c.e3+1	p.G165_splice	CREB3L2_ENST00000452463.1_Splice_Site_p.G165_splice|CREB3L2_ENST00000456390.1_Splice_Site_p.G165_splice|CREB3L2_ENST00000458726.1_Splice_Site_p.G102_splice	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	165					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G165V(2)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGCATACCCCAGTGTTCAT	0.458000			T	FUS	fibromyxoid sarcoma								27	82					3.73988e-18	5.44967e-18	0.116897	1	0
NUF2	83540	broad.mit.edu	37	1	163298635	163298635	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:163298635G>T	ENST00000271452.3	+	5	554		c.e5-1		NUF2_ENST00000490881.1_Splice_Site|NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.?(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCATCTTCAAGGGACTCATTT	0.333000													17	137					1.01871e-10	1.257e-10	0.204396	1	0
COL15A1	1306	broad.mit.edu	37	9	101817383	101817383	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:101817383G>T	ENST00000375001.3	+	33	3454		c.e33-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCTTTTTCAGGTCCTCCACT	0.353000													30	365					5.60225e-13	7.32415e-13	0.144211	1	0
EHD3	30845	broad.mit.edu	37	2	31483539	31483539	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:31483539C>A	ENST00000322054.5	+	4	951	c.666C>A	c.(664-666)gaC>gaA	p.D222E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	222					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.D222E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACAAAGCTGACCAGATCGAGA	0.552000													7	104					0.000157383	0.000167801	0.038147	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36276183	36276183	+	Missense_Mutation	SNP	G	G	A	rs139022184		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:36276183G>A	ENST00000007510.4	+	18	1958	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R469Q|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R605Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	605					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.R605Q(2)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGTGTCCCTCGAAAGAAGCCC	0.677000													29	63					0	0	0.183431	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509740	117509740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:117509740T>C	ENST00000393203.2	+	6	1994	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	616	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.L616P(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGTGAAGCTGGAGAATTGG	0.498000													22	151					0	0	0.069288	0	0
CUBN	8029	broad.mit.edu	37	10	17169921	17169921	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:17169921G>A	ENST00000377833.4	-	3	320	c.255C>T	c.(253-255)atC>atT	p.I85I	CUBN_ENST00000377823.1_Silent_p.I85I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	85					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTTTTCTGGATCTAATTTT	0.284000													13	122					0	0	0.093190	0	0
SMC4	10051	broad.mit.edu	37	3	160120494	160120494	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:160120494A>T	ENST00000357388.3	+	4	800	c.349A>T	c.(349-351)Agt>Tgt	p.S117C	SMC4_ENST00000462787.1_Missense_Mutation_p.S117C|SMC4_ENST00000360111.2_Missense_Mutation_p.S117C|SMC4_ENST00000344722.5_Missense_Mutation_p.S117C|SMC4_ENST00000469762.1_Missense_Mutation_p.S92C|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	117					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.S117C(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCCAAATGGCAGTGGCAAATC	0.323000													75	159					0	0	0.139131	0	0
ZAN	7455	broad.mit.edu	37	7	100350034	100350034	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:100350034C>A	ENST00000542585.1	+	0	2454				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S769Y(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCTCCCCAGAAAAA	0.527000													36	63					6.5261e-18	9.45268e-18	0.104719	1	0
AFF2	2334	broad.mit.edu	37	X	147743879	147743879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:147743879G>T	ENST00000370460.2	+	3	1110	c.631G>T	c.(631-633)Gag>Tag	p.E211*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.E207*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.E207*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.E207*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	211					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E211*(4)|p.E211K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTTGAAGAGTCAAACCC	0.433000													126	146					8.89058e-54	1.71563e-53	0.139131	1	0
EPHA7	2045	broad.mit.edu	37	6	93964397	93964397	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:93964397C>T	ENST00000369303.4	-	14	2684	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	834	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E834K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAGGTCTTTCTCCATAAGAC	0.398000													28	70					0	0	0.173368	0	0
GLDC	2731	broad.mit.edu	37	9	6534776	6534776	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:6534776A>G	ENST00000321612.6	-	24	3001	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	951					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.S951P(2)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGGTCAGGGAGTGTGGAGAC	0.537000													6	60					0	0	0.021553	0	0
HCN1	348980	broad.mit.edu	37	5	45645683	45645683	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:45645683T>G	ENST00000303230.4	-	2	510	c.453A>C	c.(451-453)atA>atC	p.I151I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	151						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAACCATCATTATAAGCATTA	0.318000													5	175					0	0	0.184627	0	0
SEC13	6396	broad.mit.edu	37	3	10354321	10354321	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:10354321C>G	ENST00000397117.1	-	4	807	c.216G>C	c.(214-216)tgG>tgC	p.W72C	SEC13_ENST00000383801.2_Missense_Mutation_p.W132C|SEC13_ENST00000350697.3_Missense_Mutation_p.W86C|SEC13_ENST00000397109.3_Missense_Mutation_p.W72C|SEC13_ENST00000337354.4_Missense_Mutation_p.W89C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	86					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.W86C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTTCCTCTCTCCAGATAATGA	0.582000													66	174					0	0	0.139131	0	0
STPG2	285555	broad.mit.edu	37	4	98865110	98865110	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:98865110A>G	ENST00000295268.3	-	8	1071	c.982T>C	c.(982-984)Ttg>Ctg	p.L328L		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.L328L(1)									TTGTTAGTCAAGTTAGGTAAT	0.318000													11	259					0	0	0.093190	0	0
PLCE1	51196	broad.mit.edu	37	10	96005857	96005857	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:96005857C>A	ENST00000260766.3	+	8	3209	c.2575C>A	c.(2575-2577)Cag>Aag	p.Q859K	PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551K|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859K|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGATGTGCACCAGTTCCTGCT	0.582000													34	64					3.54909e-21	5.42696e-21	0.124865	1	0
CNTN4	152330	broad.mit.edu	37	3	2908612	2908612	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:2908612C>A	ENST00000397461.1	+	7	1015	c.631C>A	c.(631-633)Cca>Aca	p.P211T	CNTN4_ENST00000427331.1_Missense_Mutation_p.P211T|CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.P211T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	211					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P211T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCACCTACACCACTAATATT	0.383000													38	71					3.78316e-11	4.72113e-11	0.086207	1	0
KCNA4	3739	broad.mit.edu	37	11	30032330	30032330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:30032330C>A	ENST00000328224.6	-	2	3129	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	632						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGTCATCCCCCTTTCCCTGAC	0.483000													41	119					5.44703e-19	8.05387e-19	0.111260	1	0
OR1J4	26219	broad.mit.edu	37	9	125281931	125281931	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:125281931A>T	ENST00000340750.1	+	1	512	c.512A>T	c.(511-513)gAc>gTc	p.D171V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D171V(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTTGTGCTGACAACACCATC	0.512000													16	127					0	0	0.160694	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486484	76486484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:76486484C>G	ENST00000307431.8	+	9	1533	c.1148C>G	c.(1147-1149)cCa>cGa	p.P383R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311R|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGCACTGCCAGACTTCTCT	0.433000													38	149					0	0	0.080422	0	0
MUC21	394263	broad.mit.edu	37	6	30954918	30954918	+	Silent	SNP	A	A	G	rs139721236		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:30954918A>G	ENST00000376296.3	+	2	1207	c.966A>G	c.(964-966)acA>acG	p.T322T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	322	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.T322T(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACTCCAGCACAACCTCCAGTG	0.617000													7	204					0	0	0.105934	0	0
TRIM55	84675	broad.mit.edu	37	8	67064863	67064863	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:67064863G>T	ENST00000315962.4	+	8	1609		c.e8+1		TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Splice_Site|TRIM55_ENST00000353317.5_Splice_Site	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGTGACACAGGTAACCCCTCC	0.542000													28	135					1.75199e-13	2.30796e-13	0.125774	1	0
INTS5	80789	broad.mit.edu	37	11	62415826	62415826	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:62415826G>A	ENST00000330574.2	-	2	1778	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	576					snRNA processing	integral to membrane|integrator complex	protein binding	p.R576C(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCCAAGTTGCGCAGGAACCGG	0.637000													13	133					0	0	0.093190	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936027	94936027	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94936027A>T	ENST00000337425.5	-	2	279	c.205T>A	c.(205-207)Ttt>Att	p.F69I	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.F69I|SERPINA9_ENST00000380365.3_Missense_Mutation_p.F51I|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	51					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.F69I(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CGGAAGGCAAAGTCGGTGTTG	0.582000													31	84					0	0	0.203993	0	0
COL3A1	1281	broad.mit.edu	37	2	189849689	189849689	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:189849689G>T	ENST00000304636.3	+	2	452		c.e2+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.?(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAACTGCTGTGAGTTTAAA	0.388000													24	49					3.5997e-14	4.82623e-14	0.069288	1	0
OBSCN	84033	broad.mit.edu	37	1	228464950	228464950	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:228464950G>C	ENST00000570156.2	+	28	7889	c.7815G>C	c.(7813-7815)gcG>gcC	p.A2605A	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.A2230A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.A1077A|OBSCN_ENST00000284548.11_Silent_p.A2230A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1599	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A2230A(2)|p.A2414A(1)|p.A2513A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAGTTCGCGGATCAGGGAG	0.642000													10	30					0	0	0.069234	0	0
DACH2	117154	broad.mit.edu	37	X	85404014	85404014	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:85404014C>A	ENST00000373131.1	+	1	553	c.390C>A	c.(388-390)atC>atA	p.I130I	DACH2_ENST00000373125.4_Silent_p.I130I	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	130	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.I130I(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGTCCGGATCCTCCGCGGGC	0.552000													32	51					2.42023e-17	3.45176e-17	0.183431	1	0
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:11187673G>T	ENST00000337414.4	-	9	2633	c.1761C>A	c.(1759-1761)atC>atA	p.I587I	ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000380736.1_Silent_p.I384I|ARHGAP6_ENST00000303025.6_Silent_p.I384I|ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000413512.3_Silent_p.I396I|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	587	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.I587I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493000													42	72					1.76056e-25	2.85087e-25	0.124865	1	0
LBP	3929	broad.mit.edu	37	20	36993349	36993349	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:36993349G>T	ENST00000217407.2	+	8	1025	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	288					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T288T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTTCAACACGGCCAGCCTGG	0.473000													80	178					3.1371e-51	5.98676e-51	0.139131	1	0
MYOM3	127294	broad.mit.edu	37	1	24388533	24388533	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:24388533G>A	ENST00000330966.7	-	33	4008	c.3846C>T	c.(3844-3846)caC>caT	p.H1282H	MYOM3_ENST00000374434.3_Silent_p.H1279H|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Silent_p.H172H			Q5VTT5	MYOM3_HUMAN	myomesin 3	1279								p.H1279H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTCCAGGATGTGAAGCCAGA	0.532000													50	417					0	0	0.139131	0	0
CD163	9332	broad.mit.edu	37	12	7636091	7636091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:7636091C>A	ENST00000359156.4	-	12	3162	c.2960G>T	c.(2959-2961)gGg>gTg	p.G987V	CD163_ENST00000396620.3_Missense_Mutation_p.G1020V|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.G975V|CD163_ENST00000432237.2_Missense_Mutation_p.G987V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CGGTCCAGTCCCCTGACCAAA	0.517000													28	115					2.48779e-11	3.13374e-11	0.108266	1	0
COL4A2	1284	broad.mit.edu	37	13	111158944	111158944	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:111158944C>A	ENST00000360467.5	+	46	4891	c.4585C>A	c.(4585-4587)Cag>Aag	p.Q1529K	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1529	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q1529K(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCGCACAACCAGGACCTGGG	0.632000													4	14					0.014758	0.0150571	0.184627	1	0
ALPK2	115701	broad.mit.edu	37	18	56203934	56203934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:56203934G>T	ENST00000361673.3	-	5	3698	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1162							ATP binding|protein serine/threonine kinase activity	p.A523D(2)|p.A1162D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGTGCAGCAGATGTCGT	0.577000													49	196					5.82089e-37	1.06218e-36	0.139131	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768708	31768708	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:31768708T>G	ENST00000355459.2	+	1	317	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	102						intermediate filament		p.F102V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTCTAGGCTTTGGATCCAG	0.597000													7	97					0	0	0.029380	0	0
DENND4B	9909	broad.mit.edu	37	1	153905198	153905198	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:153905198C>G	ENST00000361217.4	-	23	4097	c.3679G>C	c.(3679-3681)Ggt>Cgt	p.G1227R	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1227								p.G1227R(1)|p.G1115R(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGGACCACCAGGGACAGGA	0.627000													11	128					0	0	0.069234	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783353	140783353	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140783353A>T	ENST00000573521.1	+	1	834	c.834A>T	c.(832-834)gcA>gcT	p.A278A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCT	0.418000													35	118					0	0	0.173368	0	0
SSFA2	6744	broad.mit.edu	37	2	182784139	182784139	+	Missense_Mutation	SNP	G	G	T	rs150716378	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:182784139G>T	ENST00000431877.2	+	14	3289	c.3110G>T	c.(3109-3111)cGc>cTc	p.R1037L	SSFA2_ENST00000409136.1_Missense_Mutation_p.R546L|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.R1037L|SSFA2_ENST00000428267.2_Missense_Mutation_p.R884L|SSFA2_ENST00000320370.7_Missense_Mutation_p.R1037L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1037						cytoplasm|plasma membrane	actin binding	p.R1037L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532000													8	352					3.09899e-07	3.52502e-07	0.047766	1	0
CPED1	79974	broad.mit.edu	37	7	120911455	120911455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:120911455C>A	ENST00000310396.5	+	22	3306	c.2839C>A	c.(2839-2841)Cag>Aag	p.Q947K		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.Q947K(1)									AGAGTTTCTACAGGGGAAGTG	0.328000													81	194					1.81764e-44	3.4308e-44	0.139131	1	0
ADCY5	111	broad.mit.edu	37	3	123046503	123046503	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:123046503T>A	ENST00000462833.1	-	7	3121	c.1909A>T	c.(1909-1911)Atc>Ttc	p.I637F	ADCY5_ENST00000309879.5_Missense_Mutation_p.I287F|ADCY5_ENST00000491190.1_Missense_Mutation_p.I270F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	637					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I637F(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGGTCTCGATACTGTGCTCC	0.622000													15	49					0	0	0.160694	0	0
COL5A1	1289	broad.mit.edu	37	9	137646119	137646119	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:137646119G>T	ENST00000371817.3	+	16	2188	c.1773_splice	c.e16-1	p.G592_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	592	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G592C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCTGGCAGGGTCCTCGAGG	0.627000													45	80					3.10996e-30	5.36691e-30	0.139131	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147259322	147259322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:147259322C>A	ENST00000361727.3	+	12	2386	c.1870C>A	c.(1870-1872)Cct>Act	p.P624T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	624	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P624T(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCTCTGGGGCCTCTGAAAGT	0.413000										HNSCC(39;0.1)			75	153					1.86864e-30	3.23399e-30	0.139131	1	0
TRIML1	339976	broad.mit.edu	37	4	189068505	189068505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:189068505C>A	ENST00000332517.3	+	6	1526	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.C462*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCACCATCTGCTCACTGAACA	0.562000													23	119					4.59853e-10	5.57733e-10	0.108266	1	0
WDR36	134430	broad.mit.edu	37	5	110446486	110446486	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:110446486G>T	ENST00000506538.2	+	14	2182		c.e14-1		WDR36_ENST00000505303.1_Splice_Site|WDR36_ENST00000513710.2_Splice_Site	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36						response to stimulus|rRNA processing|visual perception	small-subunit processome		p.?(2)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTACCTTACAGCTCACAAGGG	0.373000													20	43					1.56452e-12	2.01272e-12	0.189662	1	0
NCOA2	10499	broad.mit.edu	37	8	71056877	71056877	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:71056877C>G	ENST00000452400.2	-	13	2993	c.2812_splice	c.e13+1	p.G938_splice	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	938					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.G938R(2)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCCTTACCTGTGCTACTG	0.363000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								18	102					0	0	0.175082	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500307	48500307	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:48500307C>A	ENST00000396577.3	+	2	606	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	SLC12A1_ENST00000561031.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000558405.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L131M|SLC12A1_ENST00000330289.6_Missense_Mutation_p.L131M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	131					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.L131M(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGACCCAGCCTGCTTGAGAT	0.468000													34	108					2.40579e-17	3.43522e-17	0.086207	1	0
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:131797656G>T	ENST00000286355.5	-	16	5218	c.3126C>A	c.(3124-3126)gcC>gcA	p.A1042A	ADCY8_ENST00000377928.3_Silent_p.A911A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCTGACACGGCCATGTAGG	0.498000										HNSCC(32;0.087)			38	178					7.53189e-24	1.19717e-23	0.098360	1	0
CUX2	23316	broad.mit.edu	37	12	111758230	111758230	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:111758230C>T	ENST00000261726.6	+	17	2571	c.2417C>T	c.(2416-2418)tCg>tTg	p.S806L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	806	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGTCGCCCTCGCTGTCCTCC	0.741000													5	55					0	0	0.047766	0	0
TEX13B	56156	broad.mit.edu	37	X	107224574	107224574	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:107224574G>A	ENST00000302917.1	-	3	767	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	225								p.L225L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAATAGCTCCGAGGGGCTGCC	0.592000													37	233					0	0	0.193644	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634713	206634713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:206634713G>T	ENST00000414007.1	+	19	2744	c.2744G>T	c.(2743-2745)gGt>gTt	p.G915V				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1055					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.G915V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAGCCCTGGTGTCAACTCA	0.502000													73	224					2.49587e-40	4.62425e-40	0.139131	1	0
NOBOX	135935	broad.mit.edu	37	7	144097391	144097391	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:144097391G>A	ENST00000467773.1	-	5	858	c.859C>T	c.(859-861)Cta>Tta	p.L287L	NOBOX_ENST00000223140.5_Silent_p.L202L|NOBOX_ENST00000483238.1_Silent_p.L287L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	287					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.L287L(4)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCTCTAGCTCCTCCAGC	0.507000													32	67					0	0	0.153744	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255192	140255192	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140255192G>T	ENST00000398631.2	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.V45V(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTTCGTGGGCCGCATCG	0.657000													41	79					1.05386e-31	1.84501e-31	0.139131	1	0
C3	718	broad.mit.edu	37	19	6692943	6692943	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:6692943C>G	ENST00000245907.6	-	26	3474	c.3382G>C	c.(3382-3384)Gaa>Caa	p.E1128Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1128					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACAATCATTTCTTGGTGTATC	0.562000													7	345					0	0	0.029380	0	0
SNIP1	79753	broad.mit.edu	37	1	38005774	38005774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:38005774C>A	ENST00000296215.6	-	3	982	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	304	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A304S(2)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGAAAGACCGCATGCTGCTTT	0.428000													40	213					7.05121e-23	1.10622e-22	0.117977	1	0
MUC17	140453	broad.mit.edu	37	7	100678604	100678604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:100678604G>T	ENST00000306151.4	+	3	3971	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1303	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V1303F(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACACTAA	0.458000													141	331					7.00697e-89	1.38534e-88	0.139131	1	0
ARFIP1	27236	broad.mit.edu	37	4	153802270	153802270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:153802270G>T	ENST00000451320.2	+	6	731	c.567G>T	c.(565-567)atG>atT	p.M189I	ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000405727.2_Missense_Mutation_p.M157I|ARFIP1_ENST00000356064.3_Missense_Mutation_p.M157I|ARFIP1_ENST00000353617.2_Missense_Mutation_p.M189I|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	189	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.M189I(4)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTTCCAGATGGTACATACCC	0.348000													38	170					3.54561e-26	5.80365e-26	0.111260	1	0
RLTPR	146206	broad.mit.edu	37	16	67680671	67680671	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:67680671G>A	ENST00000334583.6	+	7	849	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	RLTPR_ENST00000545661.1_Missense_Mutation_p.R174Q	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	174								p.R214Q(1)|p.R174Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TTCCCTTTCCGAGAGGAGATT	0.577000													23	192					0	0	0.083992	0	0
MICAL3	57553	broad.mit.edu	37	22	18301457	18301457	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:18301457C>A	ENST00000441493.2	-	26	4322	c.3970G>T	c.(3970-3972)Gtg>Ttg	p.V1324L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1324	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.V1324L(2)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AACTCCTCCACCAGGTCGCTC	0.662000													65	96					5.10652e-33	9.11179e-33	0.139131	1	0
ADAM21	8747	broad.mit.edu	37	14	70924409	70924409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:70924409C>A	ENST00000603540.1	+	2	451	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.L65M	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	65					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCCTATAGTCTGCGGTTTGG	0.537000													11	426					1.5739e-10	1.93809e-10	0.146539	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124423	142124423	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142124423C>A	ENST00000390376.2	-	0	54																											CCAGCATTCACTGGACCTGCA	0.547000													66	101					9.53695e-23	1.49231e-22	0.139131	1	0
ATXN1	6310	broad.mit.edu	37	6	16328052	16328052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:16328052C>A	ENST00000244769.4	-	8	1426	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ATXN1_ENST00000436367.1_Missense_Mutation_p.G164W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	164					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.G164W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGTGGCCCCTGCGGCCGAG	0.637000													31	64					2.54651e-27	4.23133e-27	0.092188	1	0
VPS16	64601	broad.mit.edu	37	20	2840774	2840774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:2840774G>T	ENST00000380445.3	+	3	289	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	VPS16_ENST00000380469.3_Missense_Mutation_p.G73C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	73					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.G73C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCTGCTTCCGGCATGCCTCT	0.577000													74	163					3.4779e-39	6.4142e-39	0.139131	1	0
TGM4	7047	broad.mit.edu	37	3	44951851	44951851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:44951851C>A	ENST00000296125.4	+	11	1665	c.1597C>A	c.(1597-1599)Caa>Aaa	p.Q533K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	533					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q533K(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCGCAGATCCAAGGTCAAGG	0.498000													30	53					3.17567e-06	3.53242e-06	0.134883	1	0
ITIH2	3698	broad.mit.edu	37	10	7763676	7763676	+	Missense_Mutation	SNP	C	C	T	rs141514196		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:7763676C>T	ENST00000358415.4	+	8	969	c.803C>T	c.(802-804)gCg>gTg	p.A268V	ITIH2_ENST00000379587.4_Missense_Mutation_p.A257V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A268V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGGAGACTGCGGTAGATGGG	0.552000													31	220					0	0	0.173368	0	0
ETNPPL	64850	broad.mit.edu	37	4	109670480	109670480	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:109670480C>T	ENST00000296486.3	-	8	995	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	ETNPPL_ENST00000510706.1_Missense_Mutation_p.G241S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G275S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G223S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.G281S(2)									TGGCCGTTGCCCATCGGTTTT	0.468000													60	185					0	0	0.139131	0	0
ALK	238	broad.mit.edu	37	2	29551271	29551271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:29551271C>A	ENST00000389048.3	-	6	2265	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	453	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.Q453H(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTCACAGGCCTGCCCAAGCT	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	136					3.62473e-10	4.41399e-10	0.062417	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144863409	144863409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:144863409C>A	ENST00000369359.4	-	40	6440	c.6402G>T	c.(6400-6402)caG>caT	p.Q2134H	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1892H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2083H|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1998H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1998					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCTTCACACTGTTGCTGCA	0.522000			T	PDGFRB	MPD								10	454					0.00829132	0.00852418	0.069234	1	0
CACNA1E	777	broad.mit.edu	37	1	181689959	181689959	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:181689959A>C	ENST00000526775.1	+	15	2089	c.1924A>C	c.(1924-1926)Acc>Ccc	p.T642P	CACNA1E_ENST00000367570.1_Missense_Mutation_p.T642P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T642P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T249P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T642P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T593P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	642					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T642P(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTTTGATACCTTCCCTGC	0.428000													16	30					0	0	0.062417	0	0
EPHA6	285220	broad.mit.edu	37	3	96706434	96706434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:96706434C>A	ENST00000389672.5	+	3	749	c.711C>A	c.(709-711)aaC>aaA	p.N237K	EPHA6_ENST00000542517.1_Missense_Mutation_p.N143K|EPHA6_ENST00000470610.2_Missense_Mutation_p.N237K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	142						integral to plasma membrane	ATP binding|ephrin receptor activity	p.N143K(4)|p.N237K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCAAGCCAAACCAGTATACAA	0.413000													97	342					9.27813e-46	1.75674e-45	0.139131	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222743	140222743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140222743C>A	ENST00000531613.1	+	1	1837	c.1837C>A	c.(1837-1839)Cca>Aca	p.P613T	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P613T	NM_018911.2	NP_061734.1												p.P613T(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTGCAGCCAGCTGCAAG	0.687000													50	39					1.51926e-22	2.36198e-22	0.139131	1	0
BRINP3	339479	broad.mit.edu	37	1	190250721	190250721	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:190250721C>A	ENST00000367462.3	-	3	627	c.396G>T	c.(394-396)ggG>ggT	p.G132G	FAM5C_ENST00000484105.1_5'UTR|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		132						extracellular region		p.G132G(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAAATGTGTCCCATATTTCT	0.453000													32	206					1.21669e-08	1.43532e-08	0.183431	1	0
APOBEC4	403314	broad.mit.edu	37	1	183617876	183617876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:183617876G>A	ENST00000308641.4	-	2	312	c.41C>T	c.(40-42)aCa>aTa	p.T14I	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	14					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.T14I(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTTACTATTGTTCCATGATT	0.378000													35	153					0	0	0.173368	0	0
OGN	4969	broad.mit.edu	37	9	95165621	95165621	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:95165621G>T	ENST00000262551.4	-	2	489	c.69C>A	c.(67-69)acC>acA	p.T23T	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Silent_p.T23T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	23						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGTCCTGCTGGGTTGGTGGTG	0.383000													21	66					1.9806e-07	2.26783e-07	0.069288	1	0
KRT37	8688	broad.mit.edu	37	17	39578550	39578550	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:39578550T>G	ENST00000225550.3	-	4	868	c.869A>C	c.(868-870)gAt>gCt	p.D290A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	290	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CTGTTCCACATCCTGGTGGTT	0.587000													9	335					0	0	0.058154	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	5					0.004672	0.00482374	0.115264	1	0
WDR65	149465	broad.mit.edu	37	1	43638557	43638557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:43638557C>A	ENST00000372492.4	+	2	457	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	WDR65_ENST00000528956.1_Missense_Mutation_p.Q45K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	45								p.Q45K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAATGTGGATCAGAAATGGCA	0.383000													40	110					3.3946e-10	4.14629e-10	0.080422	1	0
ZC4H2	55906	broad.mit.edu	37	X	64139003	64139003	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:64139003A>T	ENST00000545618.1	-	5	1028	c.465T>A	c.(463-465)gcT>gcA	p.A155A	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000337990.2_Silent_p.A137A|ZC4H2_ENST00000374839.3_Silent_p.A160A			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	160							metal ion binding|protein binding	p.A160A(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTGGGCGGCAGCGGCTGCAG	0.582000													15	21					0	0	0.080422	0	0
GRM8	2918	broad.mit.edu	37	7	126173340	126173340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:126173340G>T	ENST00000339582.2	-	9	2904	c.2096C>A	c.(2095-2097)aCc>aAc	p.T699N	GRM8_ENST00000444921.2_Missense_Mutation_p.T699N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.T699N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	699					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T699N(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGGCTGAAGGTGATCACCAG	0.498000										HNSCC(24;0.065)			34	68					6.84511e-11	8.48963e-11	0.183431	1	0
TRPM4	54795	broad.mit.edu	37	19	49704042	49704042	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:49704042G>T	ENST00000252826.5	+	19	3079	c.2953_splice	c.e19+1	p.V985_splice	TRPM4_ENST00000355712.5_Splice_Site_p.V631_splice|TRPM4_ENST00000427978.2_Splice_Site_p.V840_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	985					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.V985L(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACATGGACGGTAGGGGGGA	0.592000													15	63					4.7546e-09	5.64755e-09	0.146539	1	0
CHD6	84181	broad.mit.edu	37	20	40081428	40081428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:40081428T>A	ENST00000373233.3	-	21	3452	c.3275A>T	c.(3274-3276)tAc>tTc	p.Y1092F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1092					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.Y1092F(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGCTCGGAGGTAGCGCCTGGC	0.517000													8	222					0	0	0.058154	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476788	102476788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:102476788G>T	ENST00000360184.4	+	31	6561	c.6397G>T	c.(6397-6399)Gaa>Taa	p.E2133*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2133					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.E2133*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAATCTCCCTGAACAAGAGGT	0.388000													24	59					6.12954e-19	9.02985e-19	0.099896	1	0
VPS25	84313	broad.mit.edu	37	17	40931001	40931001	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:40931001C>G	ENST00000253794.2	+	6	485	c.445C>G	c.(445-447)Cta>Gta	p.L149V		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	149					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGAAGCCACTCTACTGCGGGC	0.592000													5	76					0	0	0.184627	0	0
EXT2	2132	broad.mit.edu	37	11	44228501	44228501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:44228501G>T	ENST00000395673.3	+	10	1809	c.1753G>T	c.(1753-1755)Ggt>Tgt	p.G585C	EXT2_ENST00000343631.3_Missense_Mutation_p.G552C|EXT2_ENST00000358681.4_Missense_Mutation_p.G562C|EXT2_ENST00000533608.1_Missense_Mutation_p.G552C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGCAATTTGGTTATGAGGT	0.353000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				44	186					1.89013e-27	3.145e-27	0.139131	1	0
DDC	1644	broad.mit.edu	37	7	50596906	50596906	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:50596906C>A	ENST00000444124.2	-	5	770	c.570_splice	c.e5+1	p.Q190_splice	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Splice_Site_p.Q190_splice|DDC_ENST00000380984.4_Splice_Site_p.Q190_splice|DDC_ENST00000426377.1_Splice_Site_p.Q112_splice	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	190					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Q190H(4)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACACACTCACCTGATCGGATG	0.512000													108	209					1.14919e-56	2.23188e-56	0.139131	1	0
TH	7054	broad.mit.edu	37	11	2185532	2185532	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:2185532C>A	ENST00000381178.1	-	14	1536	c.1518G>T	c.(1516-1518)gtG>gtT	p.V506V	TH_ENST00000333684.5_Silent_p.V385V|TH_ENST00000352909.3_Silent_p.V475V|TH_ENST00000381175.1_Silent_p.V502V	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	506					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.V506V(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GGGAGCGCCGCACGGCCTGGG	0.667000													26	57					1.77063e-15	2.43891e-15	0.108266	1	0
FCGBP	8857	broad.mit.edu	37	19	40433455	40433455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:40433455G>T	ENST00000221347.6	-	2	821	c.814C>A	c.(814-816)Cag>Aag	p.Q272K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	272	IgGFc-binding.					extracellular region	protein binding	p.Q272K(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTGTGGCCTGGCTGGCCACA	0.602000													20	61					7.45023e-12	9.49354e-12	0.055883	1	0
FGB	2244	broad.mit.edu	37	4	155490753	155490753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:155490753G>A	ENST00000302068.4	+	7	1109	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FGB_ENST00000509493.1_Missense_Mutation_p.G130E|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	349	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G349E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GACTGGAAAGGAGACAAAGTA	0.413000													19	172					0	0	0.189662	0	0
COL9A3	1299	broad.mit.edu	37	20	61460982	61460982	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:61460982C>A	ENST00000343916.3	+	21	1059	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	352	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.G352G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CTCTACAGGGCAGAGCTGGGG	0.706000													4	18					0.00024832	0.000263595	0.150653	1	0
NOTCH4	4855	broad.mit.edu	37	6	32168740	32168740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:32168740C>A	ENST00000375023.3	-	23	4321	c.4183G>T	c.(4183-4185)Gac>Tac	p.D1395Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1395					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1395Y(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCGGGTGGTCAGGGCCACAG	0.637000													27	57					1.16021e-09	1.40153e-09	0.125774	1	0
NCKAP5	344148	broad.mit.edu	37	2	133554252	133554252	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:133554252C>A	ENST00000409261.1	-	12	1231	c.858G>T	c.(856-858)gaG>gaT	p.E286D	NCKAP5_ENST00000409213.1_Missense_Mutation_p.E286D|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E286D|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E286D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	286							protein binding	p.E286D(1)|p.E125D(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTTTCCACCTCTGAAAGCA	0.408000													3	40					0.150653	0.151658	0.150653	1	0
OTOA	146183	broad.mit.edu	37	16	21737980	21737980	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:21737980G>T	ENST00000388958.3	+	18	2017		c.e18+1		OTOA_ENST00000388957.3_Splice_Site|OTOA_ENST00000286149.4_Splice_Site|OTOA_ENST00000388956.4_Splice_Site	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin						sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCAGTGCCTGGTAAGAAAACT	0.537000													30	154					4.4194e-11	5.49808e-11	0.173368	1	0
CCDC171	203238	broad.mit.edu	37	9	15745522	15745522	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:15745522A>C	ENST00000380701.3	+	18	2892	c.2564A>C	c.(2563-2565)aAg>aCg	p.K855T	CCDC171_ENST00000297641.3_Missense_Mutation_p.K855T	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	855								p.K855T(2)|p.K122T(2)									GAACATCAAAAGGAGCAGTTG	0.333000													95	257					0	0	0.139131	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906614	84906614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:84906614G>C	ENST00000262424.5	+	10	1222	c.998G>C	c.(997-999)cGc>cCc	p.R333P	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R333P|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R332P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1.					extracellular region|transport vesicle		p.R333P(2)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGCATATGCCGCGCCGCCATC	0.547000													27	180					0	0	0.116897	0	0
SDK1	221935	broad.mit.edu	37	7	4153708	4153708	+	Missense_Mutation	SNP	G	G	T	rs142268038		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:4153708G>T	ENST00000404826.2	+	25	3764	c.3625G>T	c.(3625-3627)Gtg>Ttg	p.V1209L	SDK1_ENST00000389531.3_Missense_Mutation_p.V1209L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1209	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.V1209L(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGAGTCCGTGGGCTACAG	0.587000													17	159					1.99824e-07	2.28154e-07	0.160694	1	0
CLASP1	23332	broad.mit.edu	37	2	122106236	122106236	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:122106236T>A	ENST00000263710.4	-	38	4654	c.4265A>T	c.(4264-4266)cAg>cTg	p.Q1422L	CLASP1_ENST00000545861.1_Missense_Mutation_p.Q1129L|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q1139L|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1355L|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1362L|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1378L|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1361L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1422	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.Q1422L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATGCACTGCTCCGGGTG	0.587000													11	32					0	0	0.105934	0	0
NAGPA	51172	broad.mit.edu	37	16	5078049	5078049	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:5078049C>A	ENST00000312251.3	-	6	1077	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	NAGPA_ENST00000381955.3_Missense_Mutation_p.R353L|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	353					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.R353L(2)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCCGGGACCCCGCCAGAAGTG	0.687000													12	48					0.000958276	0.00100573	0.189662	1	0
ASTL	431705	broad.mit.edu	37	2	96801117	96801117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:96801117G>C	ENST00000342380.2	-	3	215	c.216C>G	c.(214-216)ttC>ttG	p.F72L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	72					proteolysis		metalloendopeptidase activity|zinc ion binding	p.F72L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCGATGAGGAAGCTGCTCT	0.607000													12	70					0	0	0.080935	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773147	140773147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140773147C>A	ENST00000398604.2	+	1	767	c.767C>A	c.(766-768)cCc>cAc	p.P256H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1												p.P256H(2)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACATGCCCCCAGGCACG	0.488000													33	127					5.8336e-16	8.10931e-16	0.183431	1	0
ZNF536	9745	broad.mit.edu	37	19	31039347	31039347	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:31039347C>A	ENST00000355537.3	+	4	2968	c.2821C>A	c.(2821-2823)Ctg>Atg	p.L941M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACAAAGCCCTGGCTGACCC	0.512000													17	425					3.32936e-07	3.7764e-07	0.175082	1	0
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:203452395C>A	ENST00000343110.2	+	2	210	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P28H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647000													77	162					9.4237e-28	1.58549e-27	0.139131	1	0
IGKV1-33	28933	broad.mit.edu	37	2	89568195	89568195	+	RNA	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:89568195A>T	ENST00000473726.1	-	0	68																											CCAGAGCAGCAGGAGCCCCAG	0.527000													9	144					0	0	0.119110	0	0
GALC	2581	broad.mit.edu	37	14	88407816	88407816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:88407816C>A	ENST00000261304.2	-	15	1863	c.1757G>T	c.(1756-1758)gGt>gTt	p.G586V	GALC_ENST00000393568.4_Missense_Mutation_p.G563V|GALC_ENST00000393569.2_Missense_Mutation_p.G560V|GALC_ENST00000544807.2_Missense_Mutation_p.G530V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	586					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.G586V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATCAAAATACCACCTTTATT	0.358000													42	347					6.21074e-16	8.61375e-16	0.124865	1	0
CSMD3	114788	broad.mit.edu	37	8	113246706	113246706	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113246706C>A	ENST00000297405.5	-	68	10872	c.10627_splice	c.e68-1	p.G3543_splice	CSMD3_ENST00000455883.2_Splice_Site_p.G3374_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G3473_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3503_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3543						integral to membrane|plasma membrane		p.G3503V(2)|p.G3543V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATATACCCCTGTAAAATG	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	297					5.61819e-17	7.98444e-17	0.108266	1	0
PLCB1	23236	broad.mit.edu	37	20	8770894	8770894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:8770894G>T	ENST00000378641.3	+	31	3884	c.3409G>T	c.(3409-3411)Gat>Tat	p.D1137Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.D1137Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D1137Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1137					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAGATCCTGGATGAAAAGCC	0.343000													8	22					0.000274275	0.000290381	0.047766	1	0
REG3A	5068	broad.mit.edu	37	2	79384784	79384784	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:79384784C>A	ENST00000393878.1	-	4	628	c.374G>T	c.(373-375)aGt>aTt	p.S125I	REG3A_ENST00000305165.2_Missense_Mutation_p.S125I|REG3A_ENST00000409839.3_Missense_Mutation_p.S125I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S125I(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCACATCACTGCTACTCCA	0.542000													54	160					1.0331e-37	1.89375e-37	0.139131	1	0
OR4B1	119765	broad.mit.edu	37	11	48238932	48238932	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:48238932T>C	ENST00000309562.2	+	1	589	c.571T>C	c.(571-573)Ttc>Ctc	p.F191L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F191L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGACACCTTCATGGAGGG	0.453000													9	197					0	0	0.058154	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688809	65688809	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:65688809C>A	ENST00000335257.6	+	9	1151	c.804C>A	c.(802-804)gtC>gtA	p.V268V	PITPNC1_ENST00000581322.1_Silent_p.V268V|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CTTCTTCCGTCCGCAGTGCGC	0.552000													11	225					1.58986e-06	1.77829e-06	0.069234	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854255	178854255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:178854255G>T	ENST00000367635.3	+	12	1287	c.949G>T	c.(949-951)Gca>Tca	p.A317S	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.A317S|RALGPS2_ENST00000324778.4_Missense_Mutation_p.A282S	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	317					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAAGTGTGGCAGCTGAAGG	0.448000													36	80					4.65686e-17	6.62602e-17	0.193644	1	0
CDH24	64403	broad.mit.edu	37	14	23517500	23517500	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:23517500G>A	ENST00000397359.3	-	13	2408	c.2149C>T	c.(2149-2151)Ccc>Tcc	p.P717S	CDH24_ENST00000554034.1_Missense_Mutation_p.P679S|CDH24_ENST00000487137.2_Missense_Mutation_p.P679S|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.P717S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	717					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		cggcgcgcgggagggccgggc	0.791000													5	53					0	0	0.184627	0	0
EIF4A2	1974	broad.mit.edu	37	3	186505350	186505350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:186505350G>T	ENST00000323963.5	+	9	1040	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	EIF4A2_ENST00000440191.2_Missense_Mutation_p.V327F|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V231F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	326	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.V326F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTCAAGTCGTGTTCTGATCAC	0.398000			T	BCL6	NHL								90	203					6.07207e-39	1.11645e-38	0.139131	1	0
STK32C	282974	broad.mit.edu	37	10	134040418	134040418	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:134040418G>T	ENST00000368622.1	-	4	555	c.174C>A	c.(172-174)ggC>ggA	p.G58G	STK32C_ENST00000368625.4_Silent_p.G188G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	175							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G188G(2)|p.G175G(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAGGTCCCCGCCCAGTAGCA	0.627000													31	54					1.61788e-16	2.27256e-16	0.163468	1	0
HYDIN	54768	broad.mit.edu	37	16	70897063	70897063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:70897063G>T	ENST00000393567.2	-	68	11644	c.11494C>A	c.(11494-11496)Cgt>Agt	p.R3832S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3832								p.R3831S(2)|p.R3783S(2)|p.R3831C(1)|p.R3783C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTGGACACGTCCTGAATTA	0.463000													18	57					6.33239e-15	8.60464e-15	0.055883	1	0
FAF1	11124	broad.mit.edu	37	1	50941174	50941174	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:50941174C>A	ENST00000396153.2	-	18	2282	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	FAF1_ENST00000371778.4_Missense_Mutation_p.D611Y|FAF1_ENST00000545823.1_Missense_Mutation_p.D369Y	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	611	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.D611Y(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTACTCATCCCATGGAAAT	0.488000													6	196					0.00198382	0.00205704	0.029380	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565835	33565835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:33565835C>A	ENST00000321505.4	+	1	2015	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T612N|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T612N					KIAA1549-like									p.T612N(4)									TTTCCCAGGACCTCCTCCAGA	0.502000													14	172					3.27435e-08	3.81429e-08	0.119110	1	0
TET1	80312	broad.mit.edu	37	10	70446412	70446412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:70446412G>T	ENST00000373644.4	+	11	5561	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1784					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.K1784N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAAGCGGAAGAATAACTCAA	0.458000													18	123					1.37522e-17	1.9777e-17	0.189662	1	0
GUCY2F	2986	broad.mit.edu	37	X	108628501	108628501	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:108628501A>C	ENST00000218006.2	-	16	3258	c.2967T>G	c.(2965-2967)gtT>gtG	p.V989V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	989	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V989V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACTCCAGCAACAACCGGCC	0.478000													7	91					0	0	0.119110	0	0
SKA2	348235	broad.mit.edu	37	17	57232319	57232319	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:57232319G>A	ENST00000580541.1	-	1	226	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SKA2_ENST00000581068.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000437036.2_Silent_p.L42L|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000330137.7_Intron			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.L42L(2)		lung(4)	4						CCCCTTACCCGAGGCGGTTTA	0.612000													6	195					0	0	0.029380	0	0
TJAP1	93643	broad.mit.edu	37	6	43472822	43472822	+	Silent	SNP	G	G	A	rs151059106	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:43472822G>A	ENST00000372444.2	+	11	1306	c.873G>A	c.(871-873)ccG>ccA	p.P291P	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Silent_p.P291P|TJAP1_ENST00000372452.1_Silent_p.P291P|TJAP1_ENST00000372445.5_Silent_p.P301P|TJAP1_ENST00000438588.2_Silent_p.P301P|TJAP1_ENST00000259751.1_Silent_p.P291P|TJAP1_ENST00000372449.1_Silent_p.P301P	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	301	Pro-rich.					Golgi apparatus|tight junction	protein binding	p.P291P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGGGCTCCCCGGAGGAAGAGC	0.647000													36	162					0	0	0.080422	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376671	75376671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:75376671C>A	ENST00000555647.1	-	8	1132	c.845G>T	c.(844-846)aGg>aTg	p.R282M	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R282M|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R282M|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R251M			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	282	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity	p.R282M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGGAGAAGTCCTAGGAGGCTC	0.642000													41	116					1.38162e-09	1.66401e-09	0.104719	1	0
CCDC102B	79839	broad.mit.edu	37	18	66564585	66564585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:66564585G>C	ENST00000360242.5	+	6	1300	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D395H|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D395H|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D395H	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	395								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGCTTTTGGATAAGAAAAA	0.408000													13	232					0	0	0.105934	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:74899193C>A	ENST00000289575.5	+	8	1380	c.985C>A	c.(985-987)Ccc>Acc	p.P329T	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.P185T|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P307T|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.P102T|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.P102T|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.P213T|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.P74T	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	329					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.P329T(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAAGGACTCTCCCTCTAAGCA	0.557000													33	58					6.05902e-23	9.51794e-23	0.193644	1	0
INSC	387755	broad.mit.edu	37	11	15243085	15243085	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:15243085G>T	ENST00000379554.3	+	8	1069	c.1023G>T	c.(1021-1023)cgG>cgT	p.R341R	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Silent_p.R252R|INSC_ENST00000424273.1_Silent_p.R252R|INSC_ENST00000379556.3_Silent_p.R294R|INSC_ENST00000528567.1_Silent_p.R294R|INSC_ENST00000530161.1_Silent_p.R294R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	341					cell differentiation|nervous system development	cytoplasm	binding	p.R341R(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCCACACGGGCTGAGGCTG	0.637000													26	60					9.86064e-34	1.77257e-33	0.139131	1	0
DNAH9	1770	broad.mit.edu	37	17	11726350	11726350	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:11726350A>T	ENST00000262442.3	+	48	9313	c.9246_splice	c.e48+1	p.Q3082_splice	DNAH9_ENST00000454412.2_Splice_Site_p.Q3082_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3082	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q3082L(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTCTGCCCAGGTGAGCAAT	0.542000													9	15					0	0	0.047766	0	0
TTLL11	158135	broad.mit.edu	37	9	124751501	124751501	+	Silent	SNP	C	C	G	rs144762491		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:124751501C>G	ENST00000321582.5	-	4	1699	c.1512G>C	c.(1510-1512)acG>acC	p.T504T	TTLL11_ENST00000373776.3_Silent_p.T504T|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	504	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.T504T(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCGGCCTCCCCGTGGGGATGT	0.577000													21	228					0	0	0.069288	0	0
FLG	2312	broad.mit.edu	37	1	152285480	152285480	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152285480G>C	ENST00000368799.1	-	3	1917	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	628	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q628E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTGACTGTCACTG	0.567000									Ichthyosis				232	525					0	0	0.139131	0	0
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:126173069G>A	ENST00000339582.2	-	9	3175	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	GRM8_ENST00000444921.2_Silent_p.T789T|GRM8_ENST00000358373.3_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATGCAGGTGGTATACATGG	0.408000										HNSCC(24;0.065)			15	100					0	0	0.132662	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140559208G>A	ENST00000239444.2	+	1	1838	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672000													45	307					0	0	0.139131	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:43430713G>A	ENST00000446844.3	-	0	954				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493000													103	544					0	0	0.139131	0	0
TG	7038	broad.mit.edu	37	8	133984858	133984858	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:133984858G>A	ENST00000220616.4	+	34	6111	c.6071G>A	c.(6070-6072)tGt>tAt	p.C2024Y	TG_ENST00000377869.1_Missense_Mutation_p.C1967Y|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.C394Y|TG_ENST00000519543.1_Missense_Mutation_p.C178Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2024					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTGACATGTCTCACTCTG	0.443000													7	413					0	0	0.038147	0	0
USH2A	7399	broad.mit.edu	37	1	216143975	216143975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:216143975C>A	ENST00000366943.2	-	36	7335	c.6949G>T	c.(6949-6951)Ggc>Tgc	p.G2317C	USH2A_ENST00000307340.3_Missense_Mutation_p.G2317C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2317	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2317C(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAGTGGGCCCAGAGCACAA	0.453000										HNSCC(13;0.011)			33	178					1.22384e-17	1.76209e-17	0.173368	1	0
OR4A15	81328	broad.mit.edu	37	11	55135664	55135664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:55135664C>A	ENST00000314706.3	+	1	305	c.305C>A	c.(304-306)tCt>tAt	p.S102Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S102Y(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCGTCTATTCTACTGCATTT	0.413000													83	225					5.2429e-30	9.02197e-30	0.139131	1	0
NPY4R	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:47087209C>T	ENST00000374312.1	+	3	845	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPY4R_ENST00000395716.1_Silent_p.L142L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.L142L(2)									GGCATCAGCTCATCATCAACC	0.592000													54	419					0	0	0.139131	0	0
ZP4	57829	broad.mit.edu	37	1	238051764	238051764	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:238051764C>A	ENST00000366570.4	-	4	605	c.447G>T	c.(445-447)cgG>cgT	p.R149R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	149	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R149R(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCAGTCTGTCCCGTGCTGGGA	0.473000													58	266					1.3268e-25	2.15427e-25	0.139131	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168457	142168457	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142168457G>T	ENST00000454561.2	-	0	466																											GCTATCATTAGGGAACTGGAG	0.542000													27	232					2.80507e-11	3.51872e-11	0.163468	1	0
MUC21	394263	broad.mit.edu	37	6	30955175	30955175	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:30955175C>A	ENST00000376296.3	+	2	1464	c.1223C>A	c.(1222-1224)tCt>tAt	p.S408Y	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	408	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S408Y(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.622000													36	159					1.17673e-23	1.86302e-23	0.139131	1	0
OR52B4	143496	broad.mit.edu	37	11	4389399	4389399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:4389399C>A	ENST00000408920.2	-	1	217	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCTGTTCCCAAGAAGGGCG	0.522000													9	62					0.00448238	0.00463589	0.047766	1	0
SCN2B	6327	broad.mit.edu	37	11	118037639	118037639	+	Missense_Mutation	SNP	G	G	A	rs140034265		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:118037639G>A	ENST00000278947.5	-	4	852	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	204					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TTCACCGTCCGTCTTGCCCTC	0.602000													5	265					0	0	0.021553	0	0
SPEF2	79925	broad.mit.edu	37	5	35793323	35793323	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:35793323G>T	ENST00000440995.2	+	32	4602	c.4602G>T	c.(4600-4602)ctG>ctT	p.L1534L	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.L336L|SPEF2_ENST00000356031.3_Silent_p.L1539L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1539					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.L1539L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGTTCCTGTTAGTAACCT	0.448000													52	193					3.88204e-17	5.53007e-17	0.139131	1	0
RGS7BP	401190	broad.mit.edu	37	5	63803699	63803699	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:63803699C>G	ENST00000334025.2	+	2	653	c.327C>G	c.(325-327)atC>atG	p.I109M	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	109					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGGCTGCCATCTCAGGGTAGG	0.488000													5	70					0	0	0.184627	0	0
CPED1	79974	broad.mit.edu	37	7	120911454	120911454	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:120911454A>T	ENST00000310396.5	+	22	3305	c.2838A>T	c.(2836-2838)ctA>ctT	p.L946L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.L946L(1)|p.Q947K(1)									AAGAGTTTCTACAGGGGAAGT	0.328000													82	191					0	0	0.139131	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350576	50350576	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:50350576C>T	ENST00000376020.2	-	6	3591	c.3566G>A	c.(3565-3567)gGc>gAc	p.G1189D	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1073D|SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1189D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1189					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCCAGGTGGCCAAAGCTGAG	0.537000													6	61					0	0	0.029380	0	0
USP6	9098	broad.mit.edu	37	17	5045714	5045714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:5045714G>A	ENST00000574788.1	+	25	3965	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	USP6_ENST00000332776.4_Missense_Mutation_p.G579R|USP6_ENST00000304328.5_Missense_Mutation_p.G262R|USP6_ENST00000250066.6_Missense_Mutation_p.G579R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	579					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G579R(4)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTATGAAGGGGCATATGGC	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								20	63					0	0	0.076483	0	0
SPN	6693	broad.mit.edu	37	16	29675148	29675148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:29675148G>T	ENST00000360121.3	+	2	191	c.99G>T	c.(97-99)ttG>ttT	p.L33F	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.L33F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	33					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	p.L33F(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAGAGCCTTTGGTCTCTACTA	0.577000													67	202					2.89935e-36	5.25889e-36	0.139131	1	0
NPHP3	27031	broad.mit.edu	37	3	132440852	132440852	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:132440852C>T	ENST00000326682.8	-	1	424	c.348G>A	c.(346-348)gaG>gaA	p.E116E	NPHP3_ENST00000337331.5_Silent_p.E116E|NPHP3_ENST00000383282.2_Silent_p.E116E|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Silent_p.E116E			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	116					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.E116E(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCTTGGCCTCGCGGCGGC	0.667000													18	57					0	0	0.091800	0	0
PRKD1	5587	broad.mit.edu	37	14	30133065	30133065	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:30133065C>A	ENST00000331968.5	-	4	765	c.535_splice	c.e4-1	p.G179_splice	PRKD1_ENST00000415220.2_Splice_Site_p.G179_splice	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	179					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.G179V(4)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGACCACACCCTGGAAAGGG	0.358000													72	213					7.59065e-32	1.33278e-31	0.139131	1	0
MRPL30	51263	broad.mit.edu	37	2	99804653	99804653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:99804653G>T	ENST00000338148.3	+	3	263	c.65G>T	c.(64-66)gGt>gTt	p.G22V	MRPL30_ENST00000409145.1_Missense_Mutation_p.G22V|MRPL30_ENST00000465432.1_Intron|MRPL30_ENST00000410042.1_Missense_Mutation_p.G22V|C2orf15_ENST00000512183.2_Missense_Mutation_p.G22V	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	22					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G22V(2)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAAGGTGTGGAGTCT	0.313000													9	32					0.00829132	0.00852418	0.069234	1	0
PRPF38B	55119	broad.mit.edu	37	1	109241225	109241225	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:109241225G>T	ENST00000370021.1	+	6	862		c.e6-1		PRPF38B_ENST00000370025.4_Splice_Site			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing|RNA splicing	spliceosomal complex		p.?(2)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TGTTTCTGTAGGACCTAGATG	0.353000													24	94					5.77227e-19	8.51392e-19	0.134883	1	0
NEDD4	4734	broad.mit.edu	37	15	56140724	56140724	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:56140724T>C	ENST00000508342.1	-	12	3034	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S	NEDD4_ENST00000338963.2_Missense_Mutation_p.N840S|NEDD4_ENST00000435532.3_Missense_Mutation_p.N493S|NEDD4_ENST00000506154.1_Missense_Mutation_p.N896S			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	912	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.N493S(2)|p.N840S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATACTGTGATTTATGTAGAA	0.308000													41	61					0	0	0.098360	0	0
C9orf84	158401	broad.mit.edu	37	9	114538232	114538232	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:114538232G>T	ENST00000374287.3	-	5	349	c.89C>A	c.(88-90)aCc>aAc	p.T30N	C9orf84_ENST00000374283.5_Missense_Mutation_p.T94N|C9orf84_ENST00000318737.4_Missense_Mutation_p.T30N			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	30								p.T30N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAATCTGGGTCACCATTCT	0.318000													18	60					1.56452e-12	2.01272e-12	0.189662	1	0
TEX13B	56156	broad.mit.edu	37	X	107225113	107225113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:107225113T>A	ENST00000302917.1	-	2	337	c.245A>T	c.(244-246)cAg>cTg	p.Q82L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	82								p.Q82L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TAACTGCCCCTGCCTGTGGGC	0.617000													84	115					0	0	0.139131	0	0
RXRG	6258	broad.mit.edu	37	1	165378913	165378913	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:165378913G>A	ENST00000359842.5	-	7	1230	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	310	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGGCAATCAGCAATTCATTC	0.502000													5	79					0	0	0.184627	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408635	80408635	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:80408635T>C	ENST00000265080.4	+	14	2112	c.2045T>C	c.(2044-2046)cTc>cCc	p.L682P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	682	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L682P(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGGGAAACTCTCCGACATA	0.493000													68	189					0	0	0.139131	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089158	113089158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:113089158C>G	ENST00000409871.1	+	12	3064	c.2663C>G	c.(2662-2664)cCt>cGt	p.P888R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P888R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	888							nucleic acid binding|zinc ion binding	p.P888R(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTCCAGTACCTTTACCTAAA	0.403000													16	45					0	0	0.132662	0	0
EPHA5	2044	broad.mit.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K|EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.Q730K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATCAAACTGTCCCATGATA	0.388000										TSP Lung(17;0.13)			60	249					2.2129e-31	3.8574e-31	0.139131	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118006108	118006108	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:118006108C>A	ENST00000310754.4	-	1	628	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	148	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D148Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTTGGGTCTGACAGGCAG	0.383000													48	139					8.00217e-19	1.17742e-18	0.139131	1	0
LBP	3929	broad.mit.edu	37	20	36993396	36993396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:36993396C>A	ENST00000217407.2	+	8	1072	c.911C>A	c.(910-912)aCa>aAa	p.T304K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	304					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T304K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTCTCCATCACAGATGACATG	0.453000													65	152					1.7104e-27	2.85776e-27	0.139131	1	0
PSD	5662	broad.mit.edu	37	10	104173662	104173662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:104173662C>G	ENST00000020673.5	-	5	1943	c.1417G>C	c.(1417-1419)Gct>Cct	p.A473P	PSD_ENST00000406432.1_Missense_Mutation_p.A473P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	473					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.A258P(2)|p.A473P(2)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCATCAGCAGCAGAGCTGGTA	0.662000													36	67					0	0	0.086207	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890471	43890471	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:43890471C>T	ENST00000300283.6	+	8	1349	c.957C>T	c.(955-957)aaC>aaT	p.N319N	CKMT1B_ENST00000441322.1_Silent_p.N319N	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	319	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.N319N(2)		large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCCATCTAACCTGGGCACTG	0.512000													87	160					0	0	0.139131	0	0
LYST	1130	broad.mit.edu	37	1	235973688	235973688	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:235973688T>C	ENST00000389794.3	-	5	604	c.430A>G	c.(430-432)Aga>Gga	p.R144G	LYST_ENST00000389793.2_Missense_Mutation_p.R144G|LYST_ENST00000536965.1_Missense_Mutation_p.R144G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	144					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R144G(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGCTGTCGTCTGCTTTTTCGA	0.398000													21	267					0	0	0.062417	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393555	136393555	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:136393555A>T	ENST00000264160.4	+	10	1164	c.794A>T	c.(793-795)aAa>aTa	p.K265I	R3HDM1_ENST00000409606.1_Missense_Mutation_p.K265I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.K221I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.K209I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.K221I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	265							nucleic acid binding	p.K265I(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCTTTGACAAAGATGATAAC	0.323000													37	138					0	0	0.193644	0	0
COL5A2	1290	broad.mit.edu	37	2	189904126	189904126	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:189904126G>A	ENST00000374866.3	-	51	4071	c.3797C>T	c.(3796-3798)cCa>cTa	p.P1266L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1266L(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGAACCCCTGGGTCCGTTTT	0.517000													27	66					0	0	0.116897	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787877	27787877	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:27787877T>C	ENST00000318304.8	+	4	382	c.99T>C	c.(97-99)ttT>ttC	p.F33F	PPFIBP1_ENST00000228425.6_Silent_p.F33F|PPFIBP1_ENST00000542629.1_Silent_p.F33F|PPFIBP1_ENST00000545334.1_Silent_p.F33F|PPFIBP1_ENST00000535047.1_Silent_p.F33F|PPFIBP1_ENST00000537927.1_Intron	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	33					cell adhesion	plasma membrane	protein binding	p.F33F(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATGGGATTTTTGATTGCCAAT	0.418000													8	241					0	0	0.047766	0	0
TAF1L	138474	broad.mit.edu	37	9	32633786	32633786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:32633786C>A	ENST00000242310.4	-	1	1881	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	598					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCGAAGACCCTGTTGCTTG	0.478000													103	322					3.77761e-39	6.95634e-39	0.139131	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48143570	48143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:48143570C>A	ENST00000405493.2	-	9	931	c.722G>T	c.(721-723)tGg>tTg	p.W241L	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.W241L|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.W283L	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	241					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.W241L(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GATAATGTACCACGAAGTGCC	0.592000													79	89					5.41795e-27	8.9411e-27	0.139131	1	0
KCNK18	338567	broad.mit.edu	37	10	118960761	118960761	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:118960761C>T	ENST00000334549.1	+	2	315	c.315C>T	c.(313-315)agC>agT	p.S105S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	105						integral to membrane|plasma membrane		p.S105S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCTTCCTGAGCTCGCTCTTTT	0.557000													103	180					0	0	0.139131	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444598	49444598	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:49444598T>A	ENST00000374201.3	-	9	1224		c.e9-2		FRMPD2_ENST00000305531.3_Splice_Site|FRMPD2_ENST00000407470.4_Splice_Site	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.?(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTGGAAAACTGGAGGAAAAC	0.552000													8	80					0	0	0.047766	0	0
KCTD3	51133	broad.mit.edu	37	1	215759874	215759874	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:215759874G>C	ENST00000259154.4	+	9	957	c.663G>C	c.(661-663)acG>acC	p.T221T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	221						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.T221T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGTGTTTACGAGCCCATATT	0.443000													61	206					0	0	0.139131	0	0
ASB10	136371	broad.mit.edu	37	7	150878458	150878458	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:150878458C>A	ENST00000422024.1	-	3	932	c.807G>T	c.(805-807)cgG>cgT	p.R269R	ASB10_ENST00000420175.2_Silent_p.R224R|ASB10_ENST00000377867.3_Silent_p.R209R|ASB10_ENST00000434669.1_Silent_p.R269R|ASB10_ENST00000275838.1_Silent_p.R224R	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	224					intracellular signal transduction			p.R224R(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGCCAAGCCGGGCGGCCA	0.632000													26	47					4.72057e-08	5.47786e-08	0.091800	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140712339G>T	ENST00000517417.1	+	1	2088	c.2088G>T	c.(2086-2088)gcG>gcT	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1												p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672000													49	80					1.80625e-27	3.01375e-27	0.139131	1	0
TBX22	50945	broad.mit.edu	37	X	79277847	79277847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:79277847C>A	ENST00000373294.5	+	1	107	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.P27T|TBX22_ENST00000442340.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	27					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P27T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAAGACCCAATACAGGC	0.607000													14	28					1.49906e-05	1.64027e-05	0.119110	1	0
ITIH1	3697	broad.mit.edu	37	3	52818397	52818397	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:52818397C>T	ENST00000273283.2	+	11	1335	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	ITIH1_ENST00000540715.1_Silent_p.H295H|ITIH1_ENST00000537050.1_Silent_p.H149H|ITIH1_ENST00000542827.1_Silent_p.H437H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	437	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.H437H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTCGGCCACAATGTGGACT	0.577000													35	73					0	0	0.183431	0	0
USP9X	8239	broad.mit.edu	37	X	41043661	41043661	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:41043661C>T	ENST00000324545.7	+	23	3924	c.3291C>T	c.(3289-3291)gcC>gcT	p.A1097A	USP9X_ENST00000378308.2_Silent_p.A1097A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1097					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.A1090A(2)|p.A1097A(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTATGCCTTGTTAATGC	0.398000													47	67					0	0	0.139131	0	0
CXorf61	203413	broad.mit.edu	37	X	115593113	115593113	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:115593113G>T	ENST00000371894.4	-	2	283	c.137C>A	c.(136-138)tCt>tAt	p.S46Y		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	46						integral to membrane|plasma membrane		p.S46Y(2)		breast(1)|large_intestine(3)|lung(8)	12						AATTAACCCAGAAGAAGAGGG	0.398000													48	62					1.19451e-25	1.94209e-25	0.139131	1	0
SMEK1	55671	broad.mit.edu	37	14	91927780	91927780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:91927780C>A	ENST00000554684.1	-	14	2793	c.2297G>T	c.(2296-2298)gGc>gTc	p.G766V	SMEK1_ENST00000554943.1_Missense_Mutation_p.G779V|SMEK1_ENST00000428424.2_Missense_Mutation_p.G540V|SMEK1_ENST00000337238.4_Missense_Mutation_p.G766V|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.G540V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	779						microtubule organizing center|nucleus	protein binding	p.G779V(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAGGAGAGCCTGGAGATCC	0.488000													58	340					5.99346e-17	8.50775e-17	0.139131	1	0
SH2B1	25970	broad.mit.edu	37	16	28878264	28878264	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:28878264G>T	ENST00000337120.5	+	1	4140	c.849G>T	c.(847-849)ggG>ggT	p.G283G	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Silent_p.G283G|SH2B1_ENST00000359285.5_Silent_p.G283G|SH2B1_ENST00000395532.4_Silent_p.G283G|SH2B1_ENST00000545570.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	283	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G283G(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGGGAGGAGGGCAGCCTCAGT	0.647000													12	48					0.000151284	0.000162158	0.105934	1	0
OR5K3	403277	broad.mit.edu	37	3	98110266	98110266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:98110266C>A	ENST00000383695.1	+	1	757	c.757C>A	c.(757-759)Ctt>Att	p.L253I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L253I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGATTCCCTTCTCTTCAT	0.353000													37	181					4.14481e-20	6.29802e-20	0.086207	1	0
TCF7L2	6934	broad.mit.edu	37	10	114918424	114918424	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:114918424A>T	ENST00000545257.1	+	13	1825		c.e13-1		TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000542695.1_Splice_Site|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000352065.5_Splice_Site|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000538897.1_Splice_Site|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000534894.1_Splice_Site|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000355995.4_Splice_Site|TCF7L2_ENST00000369397.4_Splice_Site			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTTTTTTTTCAGAACACAGCG	0.353000			T	VTI1A	colorectal								11	119					0	0	0.080935	0	0
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:51143400G>T	ENST00000414786.2	+	16	2090	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G	SHANK3_ENST00000445220.2_Silent_p.G636G|SHANK3_ENST00000262795.3_Silent_p.G651G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	651								p.G651G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGAACGGGGTGAACGTGG	0.632000													39	120					8.01111e-26	1.30599e-25	0.117977	1	0
PTK7	5754	broad.mit.edu	37	6	43096872	43096872	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:43096872C>T	ENST00000230419.4	+	2	458	c.237C>T	c.(235-237)ttC>ttT	p.F79F	PTK7_ENST00000471863.1_Silent_p.F79F|PTK7_ENST00000476760.1_Silent_p.F79F|PTK7_ENST00000481273.1_Silent_p.F87F|PTK7_ENST00000345201.2_Silent_p.F79F|PTK7_ENST00000349241.2_Silent_p.F79F|PTK7_ENST00000352931.2_Silent_p.F79F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	79	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCGGCGTTTCGCCCAGGGCA	0.662000													5	74					0	0	0.058154	0	0
PUM2	23369	broad.mit.edu	37	2	20482749	20482749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:20482749C>T	ENST00000361078.2	-	11	1701	c.1679G>A	c.(1678-1680)gGt>gAt	p.G560D	PUM2_ENST00000338086.5_Missense_Mutation_p.G560D|PUM2_ENST00000319801.5_Missense_Mutation_p.G560D|PUM2_ENST00000403432.1_Missense_Mutation_p.G560D|PUM2_ENST00000536417.1_Missense_Mutation_p.G504D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	560	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.G560D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATAGCAGCACCCAAAGAGTT	0.428000													27	95					0	0	0.144211	0	0
LILRB1	10859	broad.mit.edu	37	19	55146212	55146212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:55146212C>A	ENST00000396331.1	+	11	1838	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S478*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S494*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S494*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S544*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S478*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S495*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	494					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S494*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACTGGACATCGAGTGAGTAG	0.577000										HNSCC(37;0.09)			57	157					1.64573e-32	2.91502e-32	0.139131	1	0
PHLDA1	22822	broad.mit.edu	37	12	76424788	76424788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:76424788C>A	ENST00000266671.5	-	1	2924	c.734G>T	c.(733-735)cGc>cTc	p.R245L	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.R104L			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	245	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.R245L(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTTGCCCTTGCGCTCCACACA	0.612000													59	70					9.59835e-30	1.64933e-29	0.139131	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121623757	121623757	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:121623757C>G	ENST00000393386.2	+	7	1069	c.658C>G	c.(658-660)Ctt>Gtt	p.L220V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L220V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	220	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.L220V(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTGAACCTTCTGCCAAA	0.393000													116	223					0	0	0.139131	0	0
TKTL2	84076	broad.mit.edu	37	4	164393898	164393898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:164393898G>T	ENST00000280605.3	-	1	1149	c.989C>A	c.(988-990)gCt>gAt	p.A330D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	330						cytoplasm	metal ion binding|transketolase activity	p.A330D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				gcccagtttagccagagccaa	0.428000													84	279					3.71514e-35	6.69834e-35	0.139131	1	0
SZT2	23334	broad.mit.edu	37	1	43909130	43909130	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:43909130T>C	ENST00000562955.1	+	60	8436	c.8436T>C	c.(8434-8436)tcT>tcC	p.S2812S	SZT2_ENST00000372442.1_Silent_p.S1970S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2869						peroxisome		p.S1970S(4)|p.S2812S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGAGACCTCTGGACCCCCTG	0.612000													15	70					0	0	0.119110	0	0
RTEL1	51750	broad.mit.edu	37	20	62312042	62312042	+	Silent	SNP	C	C	T	rs141241780		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:62312042C>T	ENST00000318100.4	+	14	1988	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A	RTEL1_ENST00000360203.5_Silent_p.A387A|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A387A|RTEL1_ENST00000508582.2_Silent_p.A411A|RTEL1_ENST00000370018.3_Silent_p.A387A			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	387					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.A387A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAACACGGCCGGACTGCAGA	0.662000													37	180					0	0	0.139131	0	0
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	C	A	rs142051051	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:57876663C>A	ENST00000311585.7	+	2	621	c.251C>A	c.(250-252)gCg>gAg	p.A84E	EDN3_ENST00000395654.3_Missense_Mutation_p.A84E|EDN3_ENST00000371025.3_Missense_Mutation_p.A84E|EDN3_ENST00000371028.2_Missense_Mutation_p.A84E|EDN3_ENST00000337938.2_Missense_Mutation_p.A84E	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	84					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662000													15	129					4.7546e-09	5.64755e-09	0.146539	1	0
PKNOX2	63876	broad.mit.edu	37	11	125299921	125299921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:125299921C>A	ENST00000298282.9	+	12	1347	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	PKNOX2_ENST00000542175.1_Missense_Mutation_p.A295D|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	359						nucleus	sequence-specific DNA binding transcription factor activity	p.A359D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGATCCTGCCCCCAAAGCC	0.607000													43	400					3.86236e-30	6.65582e-30	0.139131	1	0
CTNND2	1501	broad.mit.edu	37	5	11346694	11346694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:11346694C>A	ENST00000304623.8	-	9	1607	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V	CTNND2_ENST00000511377.1_Missense_Mutation_p.G382V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G40V|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G136V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.G473V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCTGGCTGCCTGTGCGCTG	0.617000													33	94					1.45844e-13	1.92756e-13	0.173368	1	0
RUVBL1	8607	broad.mit.edu	37	3	127842427	127842427	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:127842427C>A	ENST00000322623.5	-	1	240	c.141_splice	c.e1+1	p.E47_splice	RUVBL1_ENST00000417360.1_Splice_Site_p.E47_splice|RUVBL1_ENST00000464873.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	47					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.E47D(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGGCCACACCTCTCGCGCGT	0.706000													14	39					1.5842e-08	1.8634e-08	0.105934	1	0
TTN	7273	broad.mit.edu	37	2	179641380	179641380	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179641380C>G	ENST00000589042.1	-	28	5435	c.5211G>C	c.(5209-5211)gaG>gaC	p.E1737D	TTN_ENST00000591111.1_Missense_Mutation_p.E1737D|TTN_ENST00000460472.2_Missense_Mutation_p.E1691D|TTN_ENST00000360870.5_Missense_Mutation_p.E1737D|TTN_ENST00000359218.5_Missense_Mutation_p.E1691D|TTN_ENST00000342175.6_Missense_Mutation_p.E1691D|TTN_ENST00000342992.6_Missense_Mutation_p.E1737D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1489	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGAGCCACTCCACCACCA	0.473000													5	114					0	0	0.184627	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159297	18159297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:18159297G>A	ENST00000396275.2	+	3	909	c.548G>A	c.(547-549)tGg>tAg	p.W183*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W183*(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACAATCGCGTGGCTGGTTTTT	0.512000													27	144					0	0	0.099896	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266036	89266036	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:89266036G>T	ENST00000464162.1	-	0	124																											ATGCAGACAGGGAGGATGGAG	0.468000													92	282					4.5313e-69	8.88606e-69	0.139131	1	0
BRAF	673	broad.mit.edu	37	7	140476865	140476865	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:140476865A>G	ENST00000288602.6	-	13	1601	c.1541T>C	c.(1540-1542)cTa>cCa	p.L514P		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	514	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATGAAGAGTAGGATATTCAC	0.398000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	148					0	0	0.184627	0	0
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:220752848G>A	ENST00000366918.4	+	2	801	c.204G>A	c.(202-204)aaG>aaA	p.K68K	MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366917.4_Silent_p.K68K			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.K68K(2)|p.K68N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAATAGGGAAGGGAAATTTTG	0.433000													18	131					0	0	0.189662	0	0
PRR12	57479	broad.mit.edu	37	19	50099833	50099833	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:50099833C>T	ENST00000418929.2	+	4	2253	c.2241C>T	c.(2239-2241)gtC>gtT	p.V747V		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	465							DNA binding	p.V747V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTCTGTTGTCCACTACGGGG	0.692000													5	5					0	0	0.021553	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767848	54767848	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:54767848G>C	ENST00000546970.1	-	5	559	c.270C>G	c.(268-270)acC>acG	p.T90T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Silent_p.T110T|ZNF385A_ENST00000551771.1_Silent_p.T90T|ZNF385A_ENST00000394313.2_Silent_p.T90T|ZNF385A_ENST00000338010.5_Silent_p.T110T|ZNF385A_ENST00000551109.1_Silent_p.T90T|ZNF385A_ENST00000552382.1_5'UTR			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.T90T(4)|p.T110T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCTGCCTCTGGTCTTGGCAG	0.597000													46	41					0	0	0.139131	0	0
LAMC3	10319	broad.mit.edu	37	9	133914297	133914297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:133914297G>T	ENST00000361069.4	+	5	1156	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	341	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity	p.E341D(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGATCGGGAGCTCTTCCGCA	0.617000													16	154					1.96292e-10	2.40488e-10	0.055883	1	0
CSMD2	114784	broad.mit.edu	37	1	34006151	34006151	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:34006151C>A	ENST00000373381.4	-	60	9781	c.9605G>T	c.(9604-9606)tGg>tTg	p.W3202L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3178	Sushi 26.					integral to membrane|plasma membrane	protein binding	p.W3058L(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCGGTCCAGGACCCATT	0.577000													23	197					2.39556e-15	3.2922e-15	0.076483	1	0
PHF14	9678	broad.mit.edu	37	7	11068427	11068427	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:11068427A>T	ENST00000403050.3	+	7	1889	c.1437A>T	c.(1435-1437)tcA>tcT	p.S479S	PHF14_ENST00000445996.2_Silent_p.S194S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	479							zinc ion binding	p.S479S(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCTGCTTTCAGAGGCAGCGG	0.433000													22	141					0	0	0.108266	0	0
C10orf82	143379	broad.mit.edu	37	10	118425181	118425181	+	Missense_Mutation	SNP	G	G	T	rs138140121	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:118425181G>T	ENST00000369210.3	-	3	266	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	C10orf82_ENST00000588184.1_Missense_Mutation_p.S71Y	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	71								p.S71Y(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CGTCTCCTCGGAGTTGACAGG	0.567000													46	62					6.3008e-33	1.12097e-32	0.139131	1	0
OR13C2	392376	broad.mit.edu	37	9	107367610	107367610	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:107367610T>A	ENST00000542196.1	-	1	341	c.299A>T	c.(298-300)cAg>cTg	p.Q100L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAGGAACATCTGCACTGCACA	0.522000													23	156					0	0	0.098360	0	0
TXNDC12	51060	broad.mit.edu	37	1	52486661	52486661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:52486661G>A	ENST00000371626.4	-	7	1537	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	0	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.Q155*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGCCTTTCCTGAGCTTCCTTC	0.383000													18	104					0	0	0.069288	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600081	58600081	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:58600081C>A	ENST00000240727.6	-	3	926	c.527G>T	c.(526-528)gGg>gTg	p.G176V	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.G232V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.G176V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.G41V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	176					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G176V(1)|p.G232V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGGATCTCCCCAGCTCCAAG	0.637000													31	61					6.21074e-16	8.61375e-16	0.124865	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51630332	51630332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51630332G>T	ENST00000440804.3	+	4	861	c.794G>T	c.(793-795)gGc>gTc	p.G265V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G265V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	265	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.G265V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCCCAGAGGGCCAGTCTCTG	0.542000													61	155					1.26778e-28	2.14793e-28	0.139131	1	0
YARS2	51067	broad.mit.edu	37	12	32908775	32908775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:32908775C>A	ENST00000324868.8	-	1	61	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	12					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	p.G12C(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GACCACCGGCCCCAGGAAAAG	0.612000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	60					1.91693e-13	2.52249e-13	0.139131	1	0
CD244	51744	broad.mit.edu	37	1	160808305	160808305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:160808305G>T	ENST00000368034.4	-	5	947	c.770C>A	c.(769-771)aCc>aAc	p.T257N	CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368033.3_Missense_Mutation_p.T262N|CD244_ENST00000368032.2_Missense_Mutation_p.T257N|CD244_ENST00000322302.7_Missense_Mutation_p.T165N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	262					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.T257N(2)|p.T262N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTGGGACTGGTCTCTGAGGG	0.488000													38	195					3.38236e-24	5.39747e-24	0.092188	1	0
ULK4	54986	broad.mit.edu	37	3	41860964	41860964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:41860964G>T	ENST00000301831.4	-	19	2261	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	600							ATP binding|protein serine/threonine kinase activity	p.A600D(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAGGGAACAGCCCAGCACTC	0.438000													15	158					5.3912e-06	5.96936e-06	0.175082	1	0
PAK7	57144	broad.mit.edu	37	20	9624772	9624772	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:9624772C>A	ENST00000378429.3	-	4	751		c.e4+1		PAK7_ENST00000353224.5_Splice_Site|PAK7_ENST00000378423.1_Splice_Site	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7								ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTCACCATACCTTCATAGGA	0.488000													6	84					0.0215528	0.0219156	0.021553	1	0
BAGE2	85319	broad.mit.edu	37	21	11058324	11058324	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:11058324C>T	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGCACATCGCTGAAAGGGGT	0.383000													6	323					0	0	0.021553	0	0
GALNT3	2591	broad.mit.edu	37	2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	545	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383000													7	192					0	0	0.047766	0	0
IGSF10	285313	broad.mit.edu	37	3	151164627	151164627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:151164627C>A	ENST00000282466.3	-	4	3141	c.3142G>T	c.(3142-3144)Gaa>Taa	p.E1048*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1048					cell differentiation|multicellular organismal development|ossification	extracellular region		p.E1048*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCTTTTTTCAGAAGAACCT	0.493000													82	152					2.9778e-19	4.42457e-19	0.139131	1	0
SEC31A	22872	broad.mit.edu	37	4	83740390	83740390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:83740390G>T	ENST00000432794.1	-	28	3702	c.3539C>A	c.(3538-3540)aCc>aAc	p.T1180N	SEC31A_ENST00000505984.1_Missense_Mutation_p.T1113N|SEC31A_ENST00000355196.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000500777.2_Missense_Mutation_p.T1014N|SEC31A_ENST00000395310.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000513858.1_Missense_Mutation_p.T1014N|SEC31A_ENST00000264405.5_Missense_Mutation_p.T916N|SEC31A_ENST00000311785.7_Missense_Mutation_p.T1053N|SEC31A_ENST00000509142.1_Missense_Mutation_p.T1053N|SEC31A_ENST00000348405.4_Missense_Mutation_p.T1128N|SEC31A_ENST00000326950.5_Missense_Mutation_p.T1128N|SEC31A_ENST00000508502.1_Missense_Mutation_p.T1152N|SEC31A_ENST00000448323.1_Missense_Mutation_p.T1167N|SEC31A_ENST00000443462.2_Missense_Mutation_p.T1147N|SEC31A_ENST00000505472.1_Missense_Mutation_p.T1198N			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1167					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.T1167N(2)|p.T1180N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TAAACCACTGGTGATTGTTGG	0.393000													23	94					6.21321e-17	8.80934e-17	0.076483	1	0
HOXA3	3200	broad.mit.edu	37	7	27147954	27147954	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:27147954G>T	ENST00000396352.4	-	3	1111	c.912C>A	c.(910-912)acC>acA	p.T304T	HOXA3_ENST00000317201.2_Silent_p.T304T|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	304					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T304T(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCAGCCCGTAGGTACCCTGGG	0.716000													13	32					5.50884e-06	6.09402e-06	0.093190	1	0
CXCR4	7852	broad.mit.edu	37	2	136872509	136872509	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:136872509G>C	ENST00000409817.1	-	1	1304	c.1001C>G	c.(1000-1002)tCc>tGc	p.S334C	CXCR4_ENST00000241393.3_Missense_Mutation_p.S330C|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	330					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CTTTCCTTTGGAGAGGATCTT	0.463000													13	768					0	0	0.105934	0	0
LGI3	203190	broad.mit.edu	37	8	22005801	22005801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:22005801C>A	ENST00000306317.2	-	8	1808	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.E483*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	507					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.E507*(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACAGCCAGCTCCTGGAACCGT	0.612000													13	42					1.5739e-10	1.93809e-10	0.146539	1	0
EBF2	64641	broad.mit.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:25744284C>G	ENST00000520164.1	-	10	1533	c.996G>C	c.(994-996)agG>agC	p.R332S	EBF2_ENST00000408929.3_Missense_Mutation_p.R184S|EBF2_ENST00000535548.1_Missense_Mutation_p.R63S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.R332S(5)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAAATGAACCTTCCTGGGG	0.483000													22	106					0	0	0.069288	0	0
ASPM	259266	broad.mit.edu	37	1	197070066	197070066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:197070066T>C	ENST00000367409.4	-	18	8571	c.8315A>G	c.(8314-8316)cAa>cGa	p.Q2772R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2772					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2772R(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGTGCAGATTGGTTAACAAT	0.383000													33	234					0	0	0.203993	0	0
GSTM5	2949	broad.mit.edu	37	1	110257934	110257934	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:110257934C>A	ENST00000369813.1	+	5	1421	c.516C>A	c.(514-516)tcC>tcA	p.S172S	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTTCCCAGTCCTGGAGCTACA	0.458000													11	66					0.00829132	0.00852418	0.069234	1	0
SMARCA4	6597	broad.mit.edu	37	19	11145653	11145653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:11145653G>T	ENST00000358026.2	+	29	4299	c.4015G>T	c.(4015-4017)Gag>Tag	p.E1339*	SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1306*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E1339*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1339*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1306*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1339					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E1339*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGCCTCATGGAGGAGGACGA	0.677000			"""F, N, Mis"""		NSCLC								7	10					2.0095e-06	2.24558e-06	0.029380	1	0
AMPD2	271	broad.mit.edu	37	1	110168960	110168960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:110168960G>T	ENST00000256578.3	+	5	964	c.604G>T	c.(604-606)Gag>Tag	p.E202*	AMPD2_ENST00000528667.1_Nonsense_Mutation_p.E202*|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.E84*|AMPD2_ENST00000342115.4_Nonsense_Mutation_p.E121*|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Nonsense_Mutation_p.E83*|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.E127*	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	202					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E202*(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAACAGGGTGAGGGGCAGGG	0.637000													10	58					2.80697e-09	3.35062e-09	0.080935	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356183	22356183	+	RNA	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22356183G>C	ENST00000390437.2	+	0	147																											TGTGGCTTCAGTTGAGCTGTG	0.363000													11	37					0	0	0.093190	0	0
GPR98	84059	broad.mit.edu	37	5	89986703	89986703	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:89986703G>T	ENST00000405460.2	+	31	6892	c.6796G>T	c.(6796-6798)Ggc>Tgc	p.G2266C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2266					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G2266C(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGACACTCGGCAATGTTAC	0.458000													14	46					1.49906e-05	1.64027e-05	0.119110	1	0
NETO1	81832	broad.mit.edu	37	18	70423369	70423369	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:70423369G>T	ENST00000327305.6	-	8	1539	c.882C>A	c.(880-882)ggC>ggA	p.G294G	NETO1_ENST00000299430.2_Silent_p.G293G|NETO1_ENST00000583169.1_Silent_p.G294G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	294	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G294G(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATGTGTTGCCTTCACAAG	0.343000													32	99					9.65021e-13	1.25484e-12	0.153744	1	0
NBAS	51594	broad.mit.edu	37	2	15417226	15417226	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:15417226C>A	ENST00000281513.5	-	43	5164		c.e43-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence									p.?(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTGGACAAACTGAAATTAAG	0.358000													21	52					3.01185e-09	3.59162e-09	0.091800	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:40702836C>T	ENST00000356699.5	+	4	522	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L165L(4)|p.L165M(2)									TCCTCAGGATCTGGCCTCCAC	0.587000													86	383					0	0	0.139131	0	0
APOB	338	broad.mit.edu	37	2	21245902	21245902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:21245902G>T	ENST00000233242.1	-	18	2744	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	873					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L873M(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGCCACCAGTTCAGCCTGC	0.473000													19	128					3.85864e-22	5.95305e-22	0.076483	1	0
COBL	23242	broad.mit.edu	37	7	51096651	51096651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:51096651C>A	ENST00000395542.2	-	12	2572	c.2388G>T	c.(2386-2388)aaG>aaT	p.K796N	COBL_ENST00000265136.7_Missense_Mutation_p.K714N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	714								p.K714N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCATCTCTGACTTTGGAGGAA	0.522000													46	100					2.64894e-19	3.94079e-19	0.139131	1	0
ITGA2B	3674	broad.mit.edu	37	17	42455747	42455747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:42455747C>A	ENST00000262407.5	-	20	2108	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A693S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	693					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A693S(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTGCTTAGGGCCCGCATGTAG	0.647000													10	28					0.000978159	0.00102571	0.080935	1	0
MX2	4600	broad.mit.edu	37	21	42771258	42771258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:42771258C>T	ENST00000330714.3	+	10	1592	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	470					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.Q470*(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACTAATACCCAAAAAGGTAA	0.443000													20	117					0	0	0.204396	0	0
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612000													5	106					0	0	0.021553	0	0
CIC	23152	broad.mit.edu	37	19	42794026	42794026	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:42794026A>G	ENST00000572681.2	+	10	4182	c.4114A>G	c.(4114-4116)Att>Gtt	p.I1372V	CIC_ENST00000575354.2_Missense_Mutation_p.I463V|CIC_ENST00000160740.3_Missense_Mutation_p.I463V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I463V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCACTGACATTGATCTCAA	0.617000			"""Mis, F, S"""		oligodendroglioma								5	13					0	0	0.021553	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:77745831G>A	ENST00000409088.3	-	3	1578	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	LRRTM4_ENST00000409884.1_Silent_p.T388T|LRRTM4_ENST00000409093.1_Silent_p.T388T|LRRTM4_ENST00000409911.1_Silent_p.T389T|LRRTM4_ENST00000409282.1_Silent_p.T389T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388						integral to membrane		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473000													20	74					0	0	0.076483	0	0
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:31810643C>T	ENST00000446923.2	+	7	2723	c.2332C>T	c.(2332-2334)Cca>Tca	p.P778S	ZEB1_ENST00000560721.2_Missense_Mutation_p.P774S|ZEB1_ENST00000320985.10_Missense_Mutation_p.P794S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P727S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P795S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	794					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P794S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGTAATCCCACCAAGTGC	0.453000													34	111					0	0	0.183431	0	0
NIPAL3	57185	broad.mit.edu	37	1	24785406	24785406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:24785406G>T	ENST00000003912.3	+	10	1271	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	NIPAL3_ENST00000339255.2_Missense_Mutation_p.D268Y|NIPAL3_ENST00000374399.4_Missense_Mutation_p.D268Y			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	268						integral to membrane		p.D268Y(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						ACAGATGTACGACTCCTCTTT	0.468000													38	112					4.01765e-15	5.48398e-15	0.111260	1	0
C2orf16	84226	broad.mit.edu	37	2	27803275	27803275	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:27803275G>C	ENST00000408964.2	+	1	3887	c.3836G>C	c.(3835-3837)aGa>aCa	p.R1279T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1279										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCTAAAGTGAGAACCAAAAAG	0.398000													5	204					0	0	0.184627	0	0
OR14A16	284532	broad.mit.edu	37	1	247978554	247978554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247978554C>A	ENST00000357627.1	-	1	477	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160C(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAGAAGGTGCCAGCTGTGTGC	0.473000													57	216					2.23044e-30	3.8546e-30	0.139131	1	0
CYP4F3	4051	broad.mit.edu	37	19	15759996	15759996	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:15759996G>T	ENST00000221307.7	+	6	600	c.552G>T	c.(550-552)gaG>gaT	p.E184D	CYP4F3_ENST00000586182.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.E184D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	184				EGS -> KGY (in Ref. 3; AAC08589).	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.E184D(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCTCAGAGGGTAGTGCCC	0.557000													18	58					1.2644e-06	1.41952e-06	0.055883	1	0
TNC	3371	broad.mit.edu	37	9	117826978	117826978	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:117826978A>C	ENST00000350763.4	-	11	3846	c.3435T>G	c.(3433-3435)taT>taG	p.Y1145*	TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Nonsense_Mutation_p.Y1145*|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Nonsense_Mutation_p.Y1145*|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1145	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.Y1145*(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCACCCCATAGATGGAGA	0.537000													43	401					0	0	0.131918	0	0
USH2A	7399	broad.mit.edu	37	1	216496873	216496873	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:216496873G>T	ENST00000366943.2	-	8	1879	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	USH2A_ENST00000307340.3_Missense_Mutation_p.T498N|USH2A_ENST00000366942.3_Missense_Mutation_p.T498N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	498	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T498N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTAACAGCAGTCTCAGTTGT	0.368000										HNSCC(13;0.011)			80	223					9.10118e-52	1.74512e-51	0.139131	1	0
KCNK6	9424	broad.mit.edu	37	19	38817394	38817394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:38817394G>T	ENST00000263372.3	+	2	591	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	162						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.G162C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CATGCGTTGGGGCTGGGACCC	0.677000													14	67					9.31168e-06	1.02632e-05	0.105934	1	0
DUSP15	128853	broad.mit.edu	37	20	30454916	30454916	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:30454916T>A	ENST00000278979.3	-	3	163	c.87A>T	c.(85-87)acA>acT	p.T29T	DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Silent_p.T29T|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000339738.5_Silent_p.T32T|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000486996.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	29						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T32T(1)|p.T29T(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGATGATGTGTGTGATCTTAT	0.547000													4	12					0	0	0.150653	0	0
CHST2	9435	broad.mit.edu	37	3	142840553	142840553	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:142840553C>G	ENST00000309575.3	+	2	2279	c.895C>G	c.(895-897)Cgc>Ggc	p.R299G		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	299					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.R299G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCAAGTACCGCACACTAGT	0.652000													7	11					0	0	0.047766	0	0
KDM3A	55818	broad.mit.edu	37	2	86718115	86718115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:86718115C>T	ENST00000409556.1	+	25	4050	c.3685C>T	c.(3685-3687)Caa>Taa	p.Q1229*	KDM3A_ENST00000409064.1_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000542128.1_Nonsense_Mutation_p.Q1177*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1229	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q1229*(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTATGGAGTTCAAGGCTGGGC	0.423000													33	216					0	0	0.203993	0	0
ILF3	3609	broad.mit.edu	37	19	10793909	10793909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:10793909G>C	ENST00000449870.1	+	14	1974	c.1657G>C	c.(1657-1659)Ggc>Cgc	p.G553R	ILF3_ENST00000407004.3_Missense_Mutation_p.G553R|ILF3_ENST00000420083.1_Missense_Mutation_p.G549R|ILF3_ENST00000590261.1_Missense_Mutation_p.G549R|ILF3_ENST00000250241.8_Missense_Mutation_p.G549R|ILF3_ENST00000588657.1_Missense_Mutation_p.G553R|ILF3_ENST00000589998.1_Missense_Mutation_p.G549R|ILF3_ENST00000592763.1_Missense_Mutation_p.G553R|ILF3_ENST00000318511.3_Missense_Mutation_p.G549R	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	549	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.G549R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGAGACCGGGGGCAGCCACGA	0.652000													20	47					0	0	0.108266	0	0
ELTD1	64123	broad.mit.edu	37	1	79402013	79402013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:79402013A>T	ENST00000370742.3	-	7	907	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	282					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F282I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTCTTTGGAAATATATTTATG	0.279000													28	212					0	0	0.144211	0	0
OR2T1	26696	broad.mit.edu	37	1	248569631	248569631	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248569631C>G	ENST00000366474.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCCTCCTCAGCCACC	0.438000													20	382					0	0	0.055883	0	0
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378000													30	83					0	0	0.163468	0	0
SQSTM1	8878	broad.mit.edu	37	5	179250885	179250885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:179250885G>T	ENST00000389805.4	+	3	507	c.329G>T	c.(328-330)cGc>cTc	p.R110L	SQSTM1_ENST00000402874.3_Missense_Mutation_p.R26L|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R110L|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R26L|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R26L	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	110					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	p.R110L(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGACCACCGCCCACCGTGT	0.622000													30	90					1.62565e-12	2.08913e-12	0.163468	1	0
BPIFB1	92747	broad.mit.edu	37	20	31873972	31873972	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:31873972C>T	ENST00000253354.1	+	2	254	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	31						extracellular space	lipid binding	p.L31L(2)									TTCTCATCCTCGGCCCAAAAG	0.567000													28	134					0	0	0.125774	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757446	75757446	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:75757446G>T	ENST00000274364.6	+	2	395	c.98G>T	c.(97-99)cGg>cTg	p.R33L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	33					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.R33L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGAGGAGGCGGCAGAACATT	0.423000													31	178					1.36161e-19	2.04836e-19	0.203993	1	0
POLDIP3	84271	broad.mit.edu	37	22	42981234	42981234	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:42981234C>T	ENST00000339677.6	-	3	538	c.539G>A	c.(538-540)aGt>aAt	p.S180N	POLDIP3_ENST00000252115.5_3'UTR|POLDIP3_ENST00000348657.2_3'UTR			Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	0					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	p.S180N(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCTGGAGCCACTGGGGAGAGG	0.632000													5	30					0	0	0.184627	0	0
HDAC4	9759	broad.mit.edu	37	2	240066294	240066294	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:240066294G>A	ENST00000345617.3	-	8	1641	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.P253S|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	284	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P284S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACATCCAACGGACGCTTTTTT	0.577000													41	98					0	0	0.139131	0	0
SOX7	83595	broad.mit.edu	37	8	10690446	10690446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:10690446C>A	ENST00000554914.1	-	3	268	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	PINX1_ENST00000314787.3_Missense_Mutation_p.V60L|PINX1_ENST00000520018.2_5'UTR|SOX7_ENST00000553390.1_Missense_Mutation_p.V60L|PINX1_ENST00000426190.2_Missense_Mutation_p.V58L|PINX1_ENST00000519088.1_Missense_Mutation_p.V60L			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	0					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.V60L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TTATTTTTCACTTGAACTTTA	0.448000													5	17					0.00198382	0.00205704	0.029380	1	0
DIDO1	11083	broad.mit.edu	37	20	61511318	61511318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:61511318G>T	ENST00000266070.4	-	16	6315	c.5990C>A	c.(5989-5991)cCc>cAc	p.P1997H	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1997H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1997	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCAGAAAAGGGTGCGGACCC	0.602000													10	389					7.48243e-07	8.44745e-07	0.058154	1	0
MUC2	4583	broad.mit.edu	37	11	1077683	1077683	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:1077683C>A	ENST00000441003.2	+	3	460	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	MUC2_ENST00000359061.5_Missense_Mutation_p.L145I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	145	VWFD 1.					inner mucus layer|outer mucus layer	protein binding	p.L145I(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGGCCTCACCCTCATGTGGAA	0.667000													10	25					0.0692343	0.0700461	0.069234	1	0
TMC6	11322	broad.mit.edu	37	17	76113395	76113395	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:76113395C>A	ENST00000590602.1	-	18	2391	c.2232G>T	c.(2230-2232)cgG>cgT	p.R744R	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Silent_p.R323R|TMC6_ENST00000322914.3_Silent_p.R744R|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000392467.3_Silent_p.R744R|TMC6_ENST00000322933.4_Silent_p.R323R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744						endoplasmic reticulum membrane|integral to membrane		p.R744R(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCGCTGGCCCCGCACCACCT	0.682000													39	149					2.40579e-17	3.43522e-17	0.086207	1	0
BRD8	10902	broad.mit.edu	37	5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:137476521C>T	ENST00000254900.5	-	26	3859	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1163	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R1163H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443000													9	624					0	0	0.093190	0	0
NBAS	51594	broad.mit.edu	37	2	15468435	15468435	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:15468435C>A	ENST00000281513.5	-	37	4374	c.4347_splice	c.e37-1	p.G1450_splice	NBAS_ENST00000441750.1_Splice_Site_p.G1330_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450								p.G1450V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACATTTTTGCCCCTaaaaaga	0.388000													34	218					3.90053e-15	5.33013e-15	0.163468	1	0
SERPINB12	89777	broad.mit.edu	37	18	61231212	61231212	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:61231212T>A	ENST00000382768.1	+	5	564	c.562_splice	c.e5-1	p.G188_splice	SERPINB12_ENST00000269491.1_Splice_Site_p.G168_splice			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	168					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTTTTAGGTAAAATCAAGG	0.353000													13	190					0	0	0.105934	0	0
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:160811267C>A	ENST00000368034.4	-	3	565	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CD244_ENST00000368033.3_Nonsense_Mutation_p.E135*|CD244_ENST00000368032.2_Nonsense_Mutation_p.E130*|CD244_ENST00000322302.7_Intron	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	135				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015).	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.E130*(2)|p.E135*(2)|p.E130Q(1)|p.E135Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGGGTTTCTCAACTTTATCT	0.507000													43	120					2.59497e-14	3.4869e-14	0.098360	1	0
ASB15	142685	broad.mit.edu	37	7	123257663	123257663	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:123257663C>A	ENST00000451558.1	+	9	844	c.323C>A	c.(322-324)aCc>aAc	p.T108N	ASB15_ENST00000540573.1_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.T108N|ASB15_ENST00000434204.1_Missense_Mutation_p.T108N|ASB15_ENST00000275699.3_Missense_Mutation_p.T108N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAATTCAAGACCTGTGATGGA	0.383000													65	151					6.20995e-33	1.10643e-32	0.139131	1	0
VWA5A	4013	broad.mit.edu	37	11	124007382	124007382	+	Splice_Site	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:124007382G>C	ENST00000456829.2	+	14	1876		c.e14+1		VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A									p.?(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGATGTCAAGTGAGAATTCA	0.488000													20	194					0	0	0.055883	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914385	51914385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51914385G>A	ENST00000353836.5	-	10	1998	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q510*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q535*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q630*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q545*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q503*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q445*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	688					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Q688*(2)|p.Q630*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAATCCGCCTGGGTGCCCTTG	0.562000													53	108					0	0	0.139131	0	0
GABRR1	2569	broad.mit.edu	37	6	89895078	89895078	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:89895078G>A	ENST00000435811.1	-	6	1150	c.696C>T	c.(694-696)ctC>ctT	p.L232L	GABRR1_ENST00000454853.2_Silent_p.L249L|GABRR1_ENST00000369451.3_Silent_p.L162L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	249					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L243L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATTCCTGAATGAGGAACTGGG	0.488000													17	255					0	0	0.160694	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963931	88963931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:88963931G>T	ENST00000333190.4	+	4	2244	c.1635G>T	c.(1633-1635)tgG>tgT	p.W545C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	545						intracellular	zinc ion binding	p.W545C(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCGGATTGGGAAAAATTCC	0.353000										HNSCC(36;0.09)			43	101					1.00001e-27	1.67779e-27	0.111260	1	0
AHNAK	79026	broad.mit.edu	37	11	62293287	62293287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:62293287C>A	ENST00000378024.4	-	5	8876	c.8602G>T	c.(8602-8604)Gaa>Taa	p.E2868*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2868					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCAACTTCAGGACCTTTC	0.463000													9	354					2.17888e-05	2.37982e-05	0.058154	1	0
ATP1A3	478	broad.mit.edu	37	19	42471882	42471882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:42471882C>A	ENST00000545399.1	-	21	3045	c.2892G>T	c.(2890-2892)gaG>gaT	p.E964D	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E921D|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E962D|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E951D	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	951					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E951D(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGCCGTCTCCTCAAACA	0.667000													15	29					3.32936e-07	3.7764e-07	0.175082	1	0
B3GNT7	93010	broad.mit.edu	37	2	232262811	232262811	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:232262811G>C	ENST00000287590.5	+	2	642	c.381G>C	c.(379-381)ccG>ccC	p.P127P	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	127					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.P127P(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGAACCACCCGGAGAAGTGCA	0.647000													10	21					0	0	0.204396	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			168	366					0	0	0.139131	0	0
IGKV3D-15	28875	broad.mit.edu	37	2	90154121	90154121	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:90154121G>T	ENST00000417279.2	+	0	257																											CCTCATCTATGGTGCATCCAC	0.582000													26	75					2.19489e-29	3.75025e-29	0.086207	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734882	176734882	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:176734882C>G	ENST00000367662.3	+	15	5396	c.4232C>G	c.(4231-4233)tCt>tGt	p.S1411C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1411	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1411C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACTGTACCTCTATAGGCCCA	0.517000													8	371					0	0	0.038147	0	0
HNF4G	3174	broad.mit.edu	37	8	76472700	76472700	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:76472700C>A	ENST00000396423.2	+	9	1339	c.1216_splice	c.e9+1	p.I405_splice	HNF4G_ENST00000354370.1_Splice_Site_p.I368_splice	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	368					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.I405I(2)|p.I368I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGACCAGATCTGTAAGTTTA	0.363000													20	148					6.33239e-15	8.60464e-15	0.055883	1	0
TIMM17B	10245	broad.mit.edu	37	X	48751400	48751400	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:48751400C>A	ENST00000396779.3	-	6	597	c.449G>T	c.(448-450)gGg>gTg	p.G150V	TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Missense_Mutation_p.G100V	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	100					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.G100V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CAGCACAGCCCCGGTCAATGC	0.642000													8	11					0.000274275	0.000290381	0.047766	1	0
BCAS1	8537	broad.mit.edu	37	20	52591957	52591957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:52591957C>G	ENST00000395961.3	-	8	1319	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Missense_Mutation_p.D385H	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	385						cytoplasm	protein binding	p.D385H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGACTGAGTCCTCTTTAACT	0.403000													13	93					0	0	0.132662	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715880	68715880	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:68715880A>G	ENST00000325631.5	+	2	742	c.668A>G	c.(667-669)aAc>aGc	p.N223S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.N223S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	223	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GAGTGGTACAACTTGTTTGGA	0.512000													5	224					0	0	0.184627	0	0
OR2T34	127068	broad.mit.edu	37	1	248737445	248737445	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248737445T>A	ENST00000328782.2	-	1	635	c.614A>T	c.(613-615)tAc>tTc	p.Y205F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y205F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGCACAGGTACGTGAGCAT	0.527000													75	379					0	0	0.139131	0	0
SOX5	6660	broad.mit.edu	37	12	23999036	23999036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:23999036C>A	ENST00000546136.1	-	2	325	c.323G>T	c.(322-324)gGc>gTc	p.G108V	SOX5_ENST00000381381.2_Missense_Mutation_p.G108V|SOX5_ENST00000309359.1_Missense_Mutation_p.G108V|SOX5_ENST00000541536.1_Missense_Mutation_p.G108V|SOX5_ENST00000545921.1_Missense_Mutation_p.G111V|SOX5_ENST00000537393.1_Missense_Mutation_p.G86V|SOX5_ENST00000541847.1_Missense_Mutation_p.G111V|SOX5_ENST00000451604.2_Missense_Mutation_p.G121V|SOX5_ENST00000441133.2_Missense_Mutation_p.G86V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G121V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGACTCGCCACTCTGTCG	0.498000													25	160					1.04121e-07	1.20018e-07	0.108266	1	0
CSMD3	114788	broad.mit.edu	37	8	113668510	113668510	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113668510T>A	ENST00000297405.5	-	18	3121	c.2877A>T	c.(2875-2877)tcA>tcT	p.S959S	CSMD3_ENST00000455883.2_Silent_p.S855S|CSMD3_ENST00000352409.3_Silent_p.S959S|CSMD3_ENST00000343508.3_Silent_p.S919S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	959	CUB 5.					integral to membrane|plasma membrane		p.S919S(2)|p.S959S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGCAAGGGTGACAGAAGAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	162					0	0	0.076483	0	0
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:28476668C>A	ENST00000373857.3	-	2	1499	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PTAFR_ENST00000305392.3_Missense_Mutation_p.D289Y|PTAFR_ENST00000539896.1_Missense_Mutation_p.D289Y	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.D289Y(2)|p.D289H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACAGGGTCTAAGACACAG	0.537000													43	107					5.44703e-19	8.05387e-19	0.111260	1	0
RDH16	8608	broad.mit.edu	37	12	57345827	57345827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:57345827C>A	ENST00000398138.3	-	4	1796	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	314					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.A314S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAGCCTTGGCCGGGCTTGGA	0.537000													43	62					6.68952e-21	1.01903e-20	0.131918	1	0
C1QB	713	broad.mit.edu	37	1	22986096	22986096	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:22986096C>A	ENST00000509305.1	+	2	487	c.141C>A	c.(139-141)ccC>ccA	p.P47P	C1QB_ENST00000314933.6_Silent_p.P49P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	49	Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.P49P(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTGGCCCCGATGGCCAAC	0.602000													16	38					4.7546e-09	5.64755e-09	0.146539	1	0
ABCA4	24	broad.mit.edu	37	1	94574149	94574149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:94574149G>T	ENST00000370225.3	-	4	512	c.426C>A	c.(424-426)caC>caA	p.H142Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.H142Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	142					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H142Q(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTCCGGGTGAGTCCGGA	0.498000													41	126					4.44401e-20	6.74418e-20	0.117977	1	0
C16orf3	750	broad.mit.edu	37	16	90095676	90095676	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:90095676C>T	ENST00000408886.2	-	1	633	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	25								p.K25K(1)		large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGAAGGCTTCTTCAGGGTCC	0.642000													12	154					0	0	0.132662	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432940	73432940	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:73432940C>G	ENST00000263666.4	-	10	2891	c.2777G>C	c.(2776-2778)cGc>cCc	p.R926P	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R648P|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R583P|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R643P|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R583P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	926							ubiquitin-protein ligase activity|zinc ion binding	p.R926P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGTCGCTGCGGATCTTCAC	0.667000													12	72					0	0	0.093190	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117174	109117174	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:109117174G>C	ENST00000261483.4	+	9	2504	c.1452G>C	c.(1450-1452)tcG>tcC	p.S484S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	484					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S484S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGGGCCAATCGATGTTCCCTG	0.378000													28	97					0	0	0.116897	0	0
PARP8	79668	broad.mit.edu	37	5	50091127	50091127	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:50091127G>A	ENST00000281631.5	+	12	1462	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	PARP8_ENST00000503750.2_Missense_Mutation_p.S435N|PARP8_ENST00000514342.2_Missense_Mutation_p.S188N|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.S435N|PARP8_ENST00000505554.1_Missense_Mutation_p.S414N|PARP8_ENST00000514067.2_Missense_Mutation_p.S435N	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	435						intracellular	NAD+ ADP-ribosyltransferase activity	p.S435N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTACTCCAGTGCCCCCAAG	0.443000													52	165					0	0	0.139131	0	0
NMUR1	10316	broad.mit.edu	37	2	232393103	232393103	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:232393103C>T	ENST00000305141.4	-	2	762	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.R210Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CACTGGGCCCCGGCAGGGCAC	0.667000													13	24					0	0	0.119110	0	0
ALPK2	115701	broad.mit.edu	37	18	56247124	56247124	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:56247124G>C	ENST00000361673.3	-	4	1097	c.884C>G	c.(883-885)cCc>cGc	p.P295R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	295							ATP binding|protein serine/threonine kinase activity	p.P295R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTGGGCTGGGTTGTTTGTT	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	131					0	0	0.132662	0	0
LMO4	8543	broad.mit.edu	37	1	87797878	87797878	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:87797878C>A	ENST00000370544.5	+	2	960	c.180C>A	c.(178-180)atC>atA	p.I60I	LMO4_ENST00000370542.1_Silent_p.I60I|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	60	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TGGGCGACATCGGCACGTCCT	0.547000													4	116					0.00909568	0.00931151	0.150653	1	0
LAMC1	3915	broad.mit.edu	37	1	183090909	183090909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:183090909G>T	ENST00000258341.4	+	12	2299	c.2042G>T	c.(2041-2043)gGa>gTa	p.G681V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	681	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.G681V(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGGCCTGGAGTCCCTGCA	0.493000													26	94					2.79863e-10	3.42181e-10	0.099896	1	0
DCUN1D1	54165	broad.mit.edu	37	3	182681763	182681763	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:182681763T>C	ENST00000292782.4	-	3	448	c.295A>G	c.(295-297)Agc>Ggc	p.S99G	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.S84G	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	99	DCUN1.					ubiquitin ligase complex	protein binding	p.S99G(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACACTAATGCTGGCTGGATCG	0.418000													18	132					0	0	0.175082	0	0
APOBR	55911	broad.mit.edu	37	16	28509228	28509228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:28509228G>T	ENST00000564831.1	+	2	2899	c.2866G>T	c.(2866-2868)Gca>Tca	p.A956S	APOBR_ENST00000328423.5_Missense_Mutation_p.A947S|APOBR_ENST00000431282.1_Missense_Mutation_p.A947S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	947	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.A947S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCAGGCCCCTGCAGAAGCTGC	0.667000													9	32					4.68919e-08	5.44667e-08	0.069234	1	0
SCRN1	9805	broad.mit.edu	37	7	29980415	29980415	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:29980415C>G	ENST00000426154.1	-	5	798	c.622G>C	c.(622-624)Gct>Cct	p.A208P	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.A208P|SCRN1_ENST00000409497.1_Missense_Mutation_p.A208P	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	208					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A228P(2)|p.A208P(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGGCTCTGAGCGTAACTCCTG	0.527000													79	351					0	0	0.139131	0	0
LRP1B	53353	broad.mit.edu	37	2	142012141	142012141	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:142012141C>A	ENST00000389484.3	-	4	1384	c.413G>T	c.(412-414)tGt>tTt	p.C138F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	138	EGF-like 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCACAGTAACATCTTGTACT	0.323000										TSP Lung(27;0.18)			4	120					0.00116845	0.00121995	0.021553	1	0
ATP4A	495	broad.mit.edu	37	19	36044671	36044671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:36044671G>T	ENST00000262623.3	-	17	2570	c.2542C>A	c.(2542-2544)Cgc>Agc	p.R848S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.R848S(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTTGGGTTGCGTGGACGCAGG	0.607000													7	19					1.06961e-07	1.23174e-07	0.038147	1	0
HEMGN	55363	broad.mit.edu	37	9	100693342	100693342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:100693342C>A	ENST00000259456.3	-	4	478	c.335G>T	c.(334-336)gGg>gTg	p.G112V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	112					cell differentiation|multicellular organismal development			p.G112V(2)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTTATGCTCCCAGGTGGCTC	0.423000													16	154					1.52009e-12	1.96183e-12	0.132662	1	0
HOXA2	3199	broad.mit.edu	37	7	27140626	27140626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:27140626G>T	ENST00000222718.5	-	2	1160	c.850C>A	c.(850-852)Ctg>Atg	p.L284M		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	284						nucleus	sequence-specific DNA binding transcription factor activity	p.L284M(2)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAATGTTTCAGATTTTTCTCA	0.498000													77	191					1.4533e-46	2.76036e-46	0.139131	1	0
GPR139	124274	broad.mit.edu	37	16	20043655	20043655	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:20043655G>T	ENST00000570682.1	-	2	764	c.464C>A	c.(463-465)aCc>aAc	p.T155N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155						integral to membrane|plasma membrane		p.T155N(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGGAAGCAGGTGATGTAAAC	0.522000													39	154					3.33393e-15	4.57139e-15	0.214465	1	0
LGALS9	3965	broad.mit.edu	37	17	25967657	25967657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:25967657C>T	ENST00000395473.2	+	3	1659	c.191C>T	c.(190-192)cCt>cTt	p.P64L	LGALS9_ENST00000302228.5_Missense_Mutation_p.P64L|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.P64L|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Missense_Mutation_p.P64L	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	64	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.P64L(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CACTTCAACCCTCGGTTTGAA	0.527000													67	147					0	0	0.139131	0	0
SEPT14	346288	broad.mit.edu	37	7	55929665	55929665	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:55929665G>T	ENST00000388975.3	-	2	141	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	9					cell cycle|cell division	septin complex	GTP binding|protein binding	p.P9T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGTGTGGGCATAGCCATT	0.284000													3	28					0.004672	0.00482374	0.115264	1	0
VPS13C	54832	broad.mit.edu	37	15	62264919	62264919	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:62264919T>C	ENST00000261517.5	-	27	2735	c.2662A>G	c.(2662-2664)Act>Gct	p.T888A	VPS13C_ENST00000249837.3_Missense_Mutation_p.T845A|VPS13C_ENST00000395896.4_Missense_Mutation_p.T888A|VPS13C_ENST00000395898.3_Missense_Mutation_p.T845A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	888					protein localization			p.T888A(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTTACAAGTCTGTGGTTCT	0.348000													59	106					0	0	0.139131	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316550	38316550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:38316550G>T	ENST00000450935.2	+	3	508	c.430G>T	c.(430-432)Gca>Tca	p.A144S	SLC22A13_ENST00000311856.4_Silent_p.G236G			Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	314						integral to plasma membrane	organic cation transmembrane transporter activity	p.G236G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCCCTCGGGCAGATGGTGC	0.607000													103	240					1.32035e-51	2.52371e-51	0.139131	1	0
TMEM161B	153396	broad.mit.edu	37	5	87494880	87494880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:87494880C>A	ENST00000296595.6	-	10	1126	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMEM161B_ENST00000511218.1_Silent_p.L125L|TMEM161B_ENST00000506536.1_Silent_p.L152L|TMEM161B_ENST00000514135.1_Silent_p.L334L|TMEM161B_ENST00000512429.1_Silent_p.L323L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	334						integral to membrane		p.L334L(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATAAGCTTGCAGGTGACTAC	0.423000													28	80					7.07758e-08	8.16592e-08	0.099896	1	0
LHX9	56956	broad.mit.edu	37	1	197890482	197890482	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:197890482C>A	ENST00000367390.3	+	4	426	c.399C>A	c.(397-399)gcC>gcA	p.A133A	LHX9_ENST00000367391.1_Silent_p.A133A|LHX9_ENST00000561173.1_Silent_p.A148A|LHX9_ENST00000337020.2_Silent_p.A142A|LHX9_ENST00000367387.4_Silent_p.A142A	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	142	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.A133A(2)|p.A142A(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCATTTCCGCCTCGGAGATGG	0.572000													22	136					9.57634e-11	1.18406e-10	0.083992	1	0
DSCAML1	57453	broad.mit.edu	37	11	117387251	117387251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:117387251C>A	ENST00000321322.6	-	8	1895	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E362*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	572	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E632*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACAGGTACTCCCCCTCATCC	0.612000													58	79					2.41709e-19	3.6092e-19	0.139131	1	0
GAS2	2620	broad.mit.edu	37	11	22707259	22707259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:22707259G>T	ENST00000454584.2	+	3	496	c.191G>T	c.(190-192)gGt>gTt	p.G64V	GAS2_ENST00000433790.1_Missense_Mutation_p.G64V|GAS2_ENST00000278187.3_Missense_Mutation_p.G64V|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	64	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		p.G64V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTGGACAATGGTGCCTTGCTC	0.383000													47	152					8.44121e-28	1.42217e-27	0.139131	1	0
VPS35	55737	broad.mit.edu	37	16	46715307	46715307	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:46715307C>G	ENST00000299138.7	-	4	363	c.305G>C	c.(304-306)gGa>gCa	p.G102A		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	102					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.G102A(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATAATGTTTCCAGCATACTG	0.378000													26	149					0	0	0.091800	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597000													4	62					0	0	0.029380	0	0
INTS2	57508	broad.mit.edu	37	17	59962347	59962347	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:59962347G>A	ENST00000444766.3	-	16	2103	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	INTS2_ENST00000251334.6_Silent_p.P668P	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	676					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.P676P(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AATATGATTTGGGCTTTCTTT	0.353000													12	20					0	0	0.080935	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	126					0	0	0.150653	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617601	54617601	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:54617601A>T	ENST00000302287.3	+	4	778	c.372A>T	c.(370-372)ttA>ttT	p.L124F	VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.L124F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.L123F|VSTM2A_ENST00000407838.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000402613.3_Missense_Mutation_p.L124F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	124	Ig-like V-type.					extracellular region		p.L124F(2)|p.L123F(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGAAGGCTTATATGAGTGCA	0.468000													13	46					0	0	0.105934	0	0
TG	7038	broad.mit.edu	37	8	133912549	133912549	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:133912549A>G	ENST00000220616.4	+	15	3438	c.3398A>G	c.(3397-3399)gAa>gGa	p.E1133G	TG_ENST00000377869.1_Missense_Mutation_p.E1133G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1133	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCATCAGGAGAAGAGTTGCGG	0.617000													6	72					0	0	0.021553	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237394	84237394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:84237394G>T	ENST00000324537.5	+	7	817	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	SH3GL3_ENST00000535412.1_Missense_Mutation_p.G101W|SH3GL3_ENST00000427482.2_Missense_Mutation_p.G101W|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G109W			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	101	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G109W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTGAAATACGGGAAGGAGCT	0.527000													36	73					6.97489e-18	1.00906e-17	0.214465	1	0
DSCAM	1826	broad.mit.edu	37	21	41725556	41725556	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:41725556C>T	ENST00000400454.1	-	5	1247	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	257	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R257H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCAGCCAGCGGTAATCTGG	0.602000													17	97					0	0	0.160694	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766770	77766770	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:77766770T>C	ENST00000521891.2	+	10	8061	c.7613T>C	c.(7612-7614)aTg>aCg	p.M2538T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M2522T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCCCTACATGATATTTGAC	0.547000										HNSCC(33;0.089)			47	297					0	0	0.131918	0	0
LONRF3	79836	broad.mit.edu	37	X	118147138	118147138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:118147138G>T	ENST00000365713.2	+	8	1988	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.D394Y|LONRF3_ENST00000304778.7_Missense_Mutation_p.D609Y|LONRF3_ENST00000371628.3_Missense_Mutation_p.D650Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	650	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D609Y(2)|p.D650Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAACACAGCCGACATTGAATA	0.488000													26	28					2.79863e-10	3.42181e-10	0.099896	1	0
KATNAL1	84056	broad.mit.edu	37	13	30801606	30801606	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:30801606T>C	ENST00000380615.3	-	9	1257	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I364V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	364						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.I364V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTCATCAATGTCCCACGGG	0.378000													16	90					0	0	0.175082	0	0
ISOC1	51015	broad.mit.edu	37	5	128440942	128440942	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:128440942G>A	ENST00000173527.5	+	3	510	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	165						peroxisome	catalytic activity	p.G165E(2)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		AAAGGTCTTGGGAGCACGGTT	0.383000													32	86					0	0	0.153744	0	0
ABCA13	154664	broad.mit.edu	37	7	48452087	48452087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:48452087G>T	ENST00000435803.1	+	41	12390	c.12366G>T	c.(12364-12366)aaG>aaT	p.K4122N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4122					transport	integral to membrane	ATP binding|ATPase activity	p.K4067N(2)|p.K4122N(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGACAAGGCCTGCTTGA	0.493000													34	158					4.39465e-27	7.26229e-27	0.173368	1	0
DNER	92737	broad.mit.edu	37	2	230341871	230341871	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:230341871A>G	ENST00000341772.4	-	7	1380	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	416	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C416R(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGACACTGGCAGGTGAATCCA	0.378000													7	49					0	0	0.125774	0	0
OR2G2	81470	broad.mit.edu	37	1	247752128	247752128	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247752128T>C	ENST00000320065.1	+	1	467	c.467T>C	c.(466-468)aTa>aCa	p.I156T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I156T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCAGTGGAATAGCCACCACC	0.547000													136	370					0	0	0.139131	0	0
PPM1E	22843	broad.mit.edu	37	17	57043137	57043137	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:57043137C>A	ENST00000308249.2	+	3	795	c.666C>A	c.(664-666)ctC>ctA	p.L222L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	231					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACTTCCCCCTCCGCAGGAGAC	0.453000													15	454					7.93312e-07	8.93123e-07	0.119110	1	0
FER1L6	654463	broad.mit.edu	37	8	125110055	125110055	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:125110055C>A	ENST00000522917.1	+	37	5020	c.4814C>A	c.(4813-4815)aCt>aAt	p.T1605N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T1605N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1605	C2 6.					integral to membrane		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCTGGAACACTGAAGATGTC	0.418000													65	94					3.58576e-35	6.47474e-35	0.139131	1	0
AMER2	219287	broad.mit.edu	37	13	25745640	25745640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:25745640C>A	ENST00000357816.2	-	2	593	c.118G>T	c.(118-120)Gcg>Tcg	p.A40S	AMER2_ENST00000381853.3_Missense_Mutation_p.A40S|AMER2_ENST00000515384.1_Missense_Mutation_p.A40S					APC membrane recruitment protein 2									p.A40S(2)									ATGTCTGCCGCGAGGGTCCCG	0.687000													3	13					0.115264	0.11642	0.115264	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:47846506C>G	ENST00000339488.4	-	3	2107	c.2074G>C	c.(2074-2076)Gtc>Ctc	p.V692L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	692						integral to membrane	hedgehog receptor activity	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453000													17	67					0	0	0.146539	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749428	62749428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:62749428T>A	ENST00000377871.3	-	4	949	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	SLC22A6_ENST00000421062.2_Missense_Mutation_p.Y228F|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.Y228F|SLC22A6_ENST00000458333.2_Missense_Mutation_p.Y228F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	228					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Y228F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGTAGACATAGCCAATCAA	0.592000													13	49					0	0	0.119110	0	0
MYOM3	127294	broad.mit.edu	37	1	24421441	24421441	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:24421441A>T	ENST00000330966.7	-	9	995	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	MYOM3_ENST00000374434.3_Missense_Mutation_p.L277Q|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.L277Q			Q5VTT5	MYOM3_HUMAN	myomesin 3	277	Ig-like C2-type 2.							p.L277Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTGGCTTCAGCACCGAGGT	0.537000													7	60					0	0	0.029380	0	0
CHI3L2	1117	broad.mit.edu	37	1	111770280	111770280	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:111770280G>T	ENST00000445067.2	+	3	700		c.e3-1		CHI3L2_ENST00000369748.4_Intron|CHI3L2_ENST00000369744.2_5'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2						chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CTTTCGTGTAGGACAGGCTGT	0.493000													23	52					1.39806e-14	1.88278e-14	0.134883	1	0
NUP43	348995	broad.mit.edu	37	6	150067678	150067678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:150067678C>A	ENST00000367403.3	-	1	136	c.137G>T	c.(136-138)cGc>cTc	p.R46L	NUP43_ENST00000340413.2_5'UTR|NUP43_ENST00000463048.3_Intron			Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	0					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GCACAGTACGCGCCTCTCAGC	0.552000											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	68					2.80507e-11	3.51872e-11	0.163468	1	0
LSAMP	4045	broad.mit.edu	37	3	115805319	115805319	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:115805319C>A	ENST00000490035.1	-	2	739	c.240G>T	c.(238-240)ctG>ctT	p.L80L	LSAMP_ENST00000539563.1_Silent_p.L77L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.L80L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCCGTGGGTCCAGAGACCACT	0.502000													26	115					3.65163e-15	5.00132e-15	0.116897	1	0
AP2A2	161	broad.mit.edu	37	11	1009345	1009345	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:1009345A>T	ENST00000448903.2	+	20	2696	c.2555A>T	c.(2554-2556)cAg>cTg	p.Q852L	AP2A2_ENST00000332231.5_Missense_Mutation_p.Q853L|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	852					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.Q853L(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGGAAGTGCAGAACATCTTC	0.577000													14	38					0	0	0.119110	0	0
PDZD9	255762	broad.mit.edu	37	16	21999929	21999929	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:21999929A>C	ENST00000286143.6	-	4	530	c.209T>G	c.(208-210)gTa>gGa	p.V70G	PDZD9_ENST00000424898.2_Missense_Mutation_p.V132G|PDZD9_ENST00000537222.2_Missense_Mutation_p.V72G			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	132	PDZ.							p.V70G(2)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TTACCTTGTTACTGGGAATTT	0.343000													35	98					0	0	0.092188	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481082	27481082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:27481082C>T	ENST00000233535.4	-	3	723	c.371G>A	c.(370-372)tGg>tAg	p.W124*	SLC30A3_ENST00000447008.2_Nonsense_Mutation_p.W119*	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	124					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.W124*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGAGCCAGAGGGAGAA	0.637000													29	73					0	0	0.144211	0	0
KCTD7	154881	broad.mit.edu	37	7	66264318	66264318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:66264318G>T	ENST00000380828.2	+	9	1011	c.857G>T	c.(856-858)cGc>cTc	p.R286L	RABGEF1_ENST00000450873.2_Missense_Mutation_p.R246L|KCTD7_ENST00000451741.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R259L|KCTD7_ENST00000510829.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R246L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R260L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R246L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGAGCCCTGCGCTGGGTTACG	0.493000													23	58					7.87624e-14	1.04555e-13	0.076483	1	0
SKAP2	8935	broad.mit.edu	37	7	26779578	26779578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:26779578G>A	ENST00000345317.2	-	5	626	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	105					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.Q105*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGAGGAAACTGGGCTCCTATG	0.388000													12	71					0	0	0.105934	0	0
IL27RA	9466	broad.mit.edu	37	19	14153294	14153294	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:14153294G>T	ENST00000263379.2	+	5	689	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	188	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.L188L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCATACCCCTGACCCCTGTTG	0.547000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	236					1.12176e-53	2.16123e-53	0.139131	1	0
PDILT	204474	broad.mit.edu	37	16	20380897	20380897	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:20380897C>A	ENST00000302451.4	-	8	1281	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	345					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.A345S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGTACCTGGCGTCAGAGCTC	0.468000													62	264					2.22609e-26	3.65368e-26	0.139131	1	0
NEGR1	257194	broad.mit.edu	37	1	72400910	72400910	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:72400910C>A	ENST00000357731.4	-	2	500	c.261G>T	c.(259-261)gtG>gtT	p.V87V	NEGR1_ENST00000434200.1_Silent_p.V85V|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	87	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane		p.V87V(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTCGAGGATCCACTGACCACT	0.433000													35	123					1.90571e-15	2.62198e-15	0.203993	1	0
ATP2A1	487	broad.mit.edu	37	16	28898990	28898990	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:28898990C>T	ENST00000395503.4	+	8	1059	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ATP2A1_ENST00000357084.3_Missense_Mutation_p.A292V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A167V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	292					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.A292V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TTCCGCGGGGCCATCTACTAC	0.547000													24	221					0	0	0.108266	0	0
KCNH1	3756	broad.mit.edu	37	1	211256166	211256166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:211256166C>A	ENST00000367007.4	-	5	683	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	KCNH1_ENST00000271751.4_Missense_Mutation_p.V172L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	172					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.V172L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTTTTTGCACGCTTGGAGCC	0.562000													92	168					1.16668e-32	2.06952e-32	0.139131	1	0
PACS1	55690	broad.mit.edu	37	11	66001697	66001697	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:66001697G>A	ENST00000320580.4	+	17	2121	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S	PACS1_ENST00000529757.1_Silent_p.S232S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	696					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S696S(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAGTCGCTCGGAGCCACCAG	0.567000													25	179					0	0	0.091800	0	0
SNHG14	104472715	broad.mit.edu	37	15	25448271	25448271	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:25448271T>C	ENST00000424208.1	+	0	2117				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCTGGTGTGCTGAAGCTCAGG	0.647000													18	55					0	0	0.175082	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999351	27999351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:27999351G>T	ENST00000441525.1	-	1	215	c.101C>A	c.(100-102)gCg>gAg	p.A34E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	34								p.A34E(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGAGGAGGCCGCCGTCACCGC	0.562000													14	10					1.55469e-16	2.19145e-16	0.083992	1	0
PRSS12	8492	broad.mit.edu	37	4	119216985	119216985	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:119216985T>A	ENST00000296498.3	-	10	2146	c.1864A>T	c.(1864-1866)Aga>Tga	p.R622*	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	622	Zymogen activation region.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TGCAGTAATCTCAAGCCACAA	0.378000													4	115					0	0	0.021553	0	0
SPTBN1	6711	broad.mit.edu	37	2	54893182	54893182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:54893182G>T	ENST00000356805.4	+	34	7071	c.6790G>T	c.(6790-6792)Gtg>Ttg	p.V2264L		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2264	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.V2264L(2)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCTGCGAAGTGGCCCTTGA	0.468000													42	281					9.58827e-17	1.35469e-16	0.139131	1	0
COL27A1	85301	broad.mit.edu	37	9	117027389	117027389	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:117027389C>T	ENST00000356083.3	+	31	3729	c.3339_splice	c.e31+1	p.P1113_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1113	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1113L(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGCTTTCCTGTAAGTAGC	0.547000													50	183					0	0	0.139131	0	0
CD5L	922	broad.mit.edu	37	1	157803126	157803126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:157803126T>A	ENST00000368174.4	-	5	991	c.895A>T	c.(895-897)Aaa>Taa	p.K299*		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	299	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.K299*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATAGCATTTCCGGTCTCTG	0.577000													79	216					0	0	0.139131	0	0
TRAV22	28661	broad.mit.edu	37	14	22539228	22539228	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22539228G>T	ENST00000390450.3	+	0	221																											GAGTCCTCCAGACCTGATTCT	0.463000													33	90					1.57351e-24	2.52096e-24	0.193644	1	0
PLCE1	51196	broad.mit.edu	37	10	96005858	96005858	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:96005858A>G	ENST00000260766.3	+	8	3210	c.2576A>G	c.(2575-2577)cAg>cGg	p.Q859R	PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551R|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859R|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATGTGCACCAGTTCCTGCTG	0.587000													35	65					0	0	0.131918	0	0
FAM120A	23196	broad.mit.edu	37	9	96318676	96318676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:96318676G>T	ENST00000277165.6	+	13	2481	c.2287G>T	c.(2287-2289)Gat>Tat	p.D763Y	FAM120A_ENST00000340893.4_Missense_Mutation_p.D763Y|FAM120A_ENST00000333936.5_Missense_Mutation_p.D791Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	763						cytoplasm|plasma membrane	RNA binding	p.D763Y(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGAACCTAGATCCCCGAGG	0.388000													16	247					1.99824e-07	2.28154e-07	0.160694	1	0
TTN	7273	broad.mit.edu	37	2	179592523	179592523	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179592523C>T	ENST00000589042.1	-	68	20006	c.19782G>A	c.(19780-19782)aaG>aaA	p.K6594K	TTN_ENST00000591111.1_Silent_p.K6277K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K5350K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6277	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K5350K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTATTGCCTTAAATTCCA	0.373000													59	129					0	0	0.139131	0	0
BCL11B	64919	broad.mit.edu	37	14	99641151	99641151	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:99641151C>G	ENST00000345514.2	-	3	2075	c.1809G>C	c.(1807-1809)gcG>gcC	p.A603A	BCL11B_ENST00000443726.2_Silent_p.A480A|BCL11B_ENST00000357195.3_Silent_p.A674A	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	674	Gly-rich.					nucleus	zinc ion binding	p.A674A(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGGGCAGCGGCGCGGGCTTGC	0.771000			T	TLX3	T-ALL								11	24					0	0	0.093190	0	0
KIAA1109	84162	broad.mit.edu	37	4	123260563	123260563	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:123260563G>T	ENST00000264501.4	+	72	12725	c.12352_splice	c.e72+1	p.G4118_splice	KIAA1109_ENST00000388738.3_Splice_Site_p.G4118_splice			Q2LD37	K1109_HUMAN	KIAA1109	4118	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G4118C(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATACCAGGTATAGATAA	0.313000													28	107					2.4375e-19	3.6307e-19	0.125774	1	0
MMEL1	79258	broad.mit.edu	37	1	2537711	2537711	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:2537711C>T	ENST00000288709.6	-	8	939	c.699G>A	c.(697-699)caG>caA	p.Q233Q	MMEL1_ENST00000378412.3_Silent_p.Q242Q|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	242					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.Q233Q(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCTGGAGTTCTGGTCGTCGT	0.642000													20	82					0	0	0.069288	0	0
RBBP6	5930	broad.mit.edu	37	16	24578506	24578506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:24578506G>C	ENST00000319715.4	+	15	2064	c.1632G>C	c.(1630-1632)agG>agC	p.R544S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.R544S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R544S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATCACAGAGGACTCAAGGCC	0.478000													29	156					0	0	0.173368	0	0
GABRE	2564	broad.mit.edu	37	X	151131077	151131077	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:151131077G>A	ENST00000393914.3	-	0	604				GABRE_ENST00000370325.1_Silent_p.Y127Y|GABRE_ENST00000370328.3_Silent_p.Y127Y			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y14Y(2)|p.Y127Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGTTCGTCGTACCAGGTCT	0.463000													13	164					0	0	0.119110	0	0
RNF17	56163	broad.mit.edu	37	13	25356050	25356050	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:25356050G>A	ENST00000255324.5	+	6	631	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RNF17_ENST00000381921.1_Silent_p.Q193Q|RNF17_ENST00000255325.5_Silent_p.Q193Q|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	193					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q193Q(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGAGAAACAGTTTGACCAAC	0.328000													11	68					0	0	0.069234	0	0
MYH14	79784	broad.mit.edu	37	19	50779265	50779265	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:50779265G>C	ENST00000440075.2	+	28	3532	c.3485G>C	c.(3484-3486)gGg>gCg	p.G1162A	MYH14_ENST00000376970.2_Missense_Mutation_p.G1154A|MYH14_ENST00000262269.8_Missense_Mutation_p.G1162A|MYH14_ENST00000601313.1_Missense_Mutation_p.G1162A|MYH14_ENST00000596571.1_Missense_Mutation_p.G1121A|MYH14_ENST00000425460.1_Missense_Mutation_p.G1129A|MYH14_ENST00000598205.1_Missense_Mutation_p.G1129A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1121					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G1121A(2)|p.G1162A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGAGGGTGGGGCCCGGGCC	0.647000													5	33					0	0	0.038147	0	0
HOXA1	3198	broad.mit.edu	37	7	27135327	27135327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:27135327G>T	ENST00000343060.4	-	1	266	c.205C>A	c.(205-207)Cac>Aac	p.H69N	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.H69N	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	69	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H69N(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggtggtggtggtggtggtgg	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	66					4.87955e-14	6.52769e-14	0.108266	1	0
INTU	27152	broad.mit.edu	37	4	128632153	128632153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:128632153G>T	ENST00000335251.5	+	14	2558	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	819								p.E819*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TACCCTTGAAGAGGTGGCACA	0.418000													44	123					9.14704e-12	1.16312e-11	0.104719	1	0
OR1N2	138882	broad.mit.edu	37	9	125315646	125315646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:125315646C>G	ENST00000373688.2	+	1	256	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I66M(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGGCCATCAGCTCTGACC	0.527000													20	214					0	0	0.062417	0	0
NUGGC	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:27927077C>T	ENST00000413272.2	-	4	383	c.241G>A	c.(241-243)Gga>Aga	p.G81R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G81R(4)									TACTTGACTCCATTAGGGATG	0.413000													21	97					0	0	0.055883	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264058	140264058	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140264058C>A	ENST00000289272.2	+	1	2205	c.2205C>A	c.(2203-2205)ggC>ggA	p.G735G	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G735G|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.G735G(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCGGGCAAGCCCACTC	0.687000													15	116					1.64113e-05	1.79411e-05	0.055883	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914953	94914953	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94914953G>T	ENST00000334708.3	-	2	223	c.159C>A	c.(157-159)acC>acA	p.T53T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	53					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T235T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATTGGTAATGGTGGGTGTGA	0.572000													96	263					3.0784e-53	5.91209e-53	0.139131	1	0
SPRR2E	6704	broad.mit.edu	37	1	153066043	153066043	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:153066043G>T	ENST00000368751.1	-	2	259	c.185C>A	c.(184-186)cCc>cAc	p.P62H	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P62H			P22531	SPR2E_HUMAN	small proline-rich protein 2E	62					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	p.P62H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGGCAGGGTGGGGAAGG	0.552000													123	476					9.56274e-47	1.81918e-46	0.139131	1	0
EXOC5	10640	broad.mit.edu	37	14	57684713	57684713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:57684713T>G	ENST00000413566.2	-	15	1959	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	EXOC5_ENST00000340918.7_Missense_Mutation_p.T469P	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	534					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		p.T536P(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCAATGCCAGTATCCAATTTC	0.289000													13	81					0	0	0.105934	0	0
OR4L1	122742	broad.mit.edu	37	14	20528425	20528425	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:20528425C>T	ENST00000315683.1	+	1	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGTCTCTCCACTGCCACAA	0.453000													41	322					0	0	0.092188	0	0
STAG2	10735	broad.mit.edu	37	X	123156495	123156495	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:123156495A>T	ENST00000371160.1	+	3	308	c.18A>T	c.(16-18)gaA>gaT	p.E6D	STAG2_ENST00000218089.9_Missense_Mutation_p.E6D|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000371144.3_Missense_Mutation_p.E6D|STAG2_ENST00000371145.3_Missense_Mutation_p.E6D|STAG2_ENST00000371157.3_Missense_Mutation_p.E6D|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	6					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.E6D(4)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGCTCCAGAAATACCAACTG	0.308000													15	33					0	0	0.146539	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266601	113266601	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:113266601C>T	ENST00000369630.3	+	4	517	c.300C>T	c.(298-300)gaC>gaT	p.D100D	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region		p.D100D(2)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGTAGAGACCCTAGAGCTG	0.607000													12	141					0	0	0.119110	0	0
SPEF2	79925	broad.mit.edu	37	5	35779450	35779450	+	Splice_Site	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:35779450T>G	ENST00000440995.2	+	30	4432		c.e30+2		CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Splice_Site|SPEF2_ENST00000356031.3_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCTAAAGGTAGGAAAAATA	0.388000													6	202					0	0	0.029380	0	0
PDS5B	23047	broad.mit.edu	37	13	33320130	33320130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:33320130A>T	ENST00000315596.10	+	24	2814	c.2628A>T	c.(2626-2628)tcA>tcT	p.S876S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	876					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.S876S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGATATGTCACGTCTGAGAC	0.328000													8	106					0	0	0.160694	0	0
STAP1	26228	broad.mit.edu	37	4	68436840	68436840	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:68436840T>A	ENST00000265404.2	+	2	241	c.159T>A	c.(157-159)acT>acA	p.T53T	STAP1_ENST00000396225.1_Silent_p.T53T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	53	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm		p.T53T(2)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGGAACTACTCTTTTCTTTT	0.308000													88	306					0	0	0.139131	0	0
BRIP1	83990	broad.mit.edu	37	17	59760806	59760806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:59760806T>C	ENST00000259008.2	-	20	3868	c.3601A>G	c.(3601-3603)Att>Gtt	p.I1201V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1201					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.I1201V(4)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCTTCAATATGCAGAATT	0.303000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					41	78					0	0	0.086207	0	0
OR5D14	219436	broad.mit.edu	37	11	55563649	55563649	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:55563649C>T	ENST00000335605.1	+	1	618	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T206T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTTCGCCACCTTCAATGAGA	0.433000													28	360					0	0	0.134883	0	0
TESPA1	9840	broad.mit.edu	37	12	55356793	55356793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:55356793G>A	ENST00000524622.1	-	7	1136	c.475C>T	c.(475-477)Cga>Tga	p.R159*	TESPA1_ENST00000532804.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.R297*|TESPA1_ENST00000449076.1_Nonsense_Mutation_p.R297*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.R159*	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	297								p.R297*(2)|p.R159*(2)									GGCCGGTCTCGGGGGCATGTG	0.542000													49	68					0	0	0.139131	0	0
DNAH9	1770	broad.mit.edu	37	17	11622751	11622751	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:11622751C>T	ENST00000262442.3	+	27	5721	c.5653C>T	c.(5653-5655)Cgc>Tgc	p.R1885C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1885C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1885	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1885C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTGGGCCGCGCACTGGG	0.627000													4	123					0	0	0.150653	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047196	76047196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:76047196G>A	ENST00000335749.4	+	3	2622	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	TNRC6C_ENST00000544502.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V685M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V685M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	685	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.V685M(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCTTCTGTGAAACAGAC	0.552000													5	12					0	0	0.184627	0	0
LCE3D	84648	broad.mit.edu	37	1	152552407	152552407	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152552407G>T	ENST00000368787.3	-	2	62	c.6C>A	c.(4-6)tcC>tcA	p.S2S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization			p.S2S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TCTGCTGGCAGGACATCTTGG	0.547000													55	177					3.36121e-32	5.93616e-32	0.139131	1	0
SPRR1B	6699	broad.mit.edu	37	1	153005016	153005016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:153005016C>A	ENST00000307098.4	+	2	260	c.195C>A	c.(193-195)tgC>tgA	p.C65*	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C65*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCATGCCACCCCAAGG	0.617000													65	266					3.07184e-27	5.09723e-27	0.139131	1	0
TRPV5	56302	broad.mit.edu	37	7	142625790	142625790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142625790G>T	ENST00000265310.1	-	6	1106	c.758C>A	c.(757-759)aCt>aAt	p.T253N	TRPV5_ENST00000442623.1_Missense_Mutation_p.T253N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	253					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.T253N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTTACCACAGTGTTACCCTC	0.577000													17	24					1.99824e-07	2.28154e-07	0.160694	1	0
RP1	6101	broad.mit.edu	37	8	55538014	55538014	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:55538014T>G	ENST00000220676.1	+	4	1720	c.1572T>G	c.(1570-1572)gaT>gaG	p.D524E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	524					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D524E(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACAATGATCAAATGGAGG	0.348000													7	104					0	0	0.058154	0	0
FAM47C	442444	broad.mit.edu	37	X	37027514	37027514	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:37027514C>T	ENST00000358047.3	+	1	1083	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	344								p.P344L(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCACCCAGAGCCTCCC	0.622000													51	86					0	0	0.139131	0	0
FHL1	2273	broad.mit.edu	37	X	135288623	135288623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:135288623G>T	ENST00000543669.1	+	2	743	c.32G>T	c.(31-33)aGg>aTg	p.R11M	FHL1_ENST00000370690.3_Missense_Mutation_p.R11M|FHL1_ENST00000394155.2_Missense_Mutation_p.R11M|FHL1_ENST00000394153.2_Missense_Mutation_p.R11M|FHL1_ENST00000370683.1_Missense_Mutation_p.R27M|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.R40M|FHL1_ENST00000345434.3_Missense_Mutation_p.R11M|FHL1_ENST00000370676.3_Missense_Mutation_p.R27M|FHL1_ENST00000535737.1_Missense_Mutation_p.R11M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	11					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.R11M(4)|p.R40M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CACTACTGCAGGGATCCCTTG	0.557000													102	158					1.54984e-59	3.01483e-59	0.139131	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616685	77616685	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:77616685A>G	ENST00000521891.2	+	2	810	c.362A>G	c.(361-363)gAc>gGc	p.D121G	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D121G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D121G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D121G|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D121G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTTAGAGGACAGTGACGTG	0.478000										HNSCC(33;0.089)			5	274					0	0	0.021553	0	0
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552000													102	143					1.7666e-45	3.33967e-45	0.139131	1	0
PPP3R2	5535	broad.mit.edu	37	9	104356802	104356802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:104356802G>T	ENST00000374806.1	-	1	481	c.411C>A	c.(409-411)gaC>gaA	p.D137E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	134	EF-hand 4.						calcium ion binding	p.D137E(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TGATGGTTTTGTCGACCAGCT	0.522000													15	135					4.93089e-13	6.47447e-13	0.119110	1	0
OR13C2	392376	broad.mit.edu	37	9	107367620	107367620	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:107367620A>T	ENST00000542196.1	-	1	331	c.289T>A	c.(289-291)Tgt>Agt	p.C97S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCACTGCACAGCCAGAAAGG	0.532000													12	134					0	0	0.173368	0	0
TDRD6	221400	broad.mit.edu	37	6	46657599	46657599	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:46657599G>T	ENST00000544460.1	+	1	1988	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	TDRD6_ENST00000316081.6_Silent_p.V578V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	578	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.V578V(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGAAAATGTGGACTGGTATG	0.433000													81	234					5.41189e-41	1.00733e-40	0.139131	1	0
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:10448802G>A	ENST00000245503.5	-	5	750	c.366C>T	c.(364-366)ttC>ttT	p.F122F	MYH2_ENST00000532183.1_Silent_p.F122F|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.F122F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	122	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F122F(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTGACACAGAAGAGACCTG	0.453000													51	92					0	0	0.139131	0	0
AGAP1	116987	broad.mit.edu	37	2	236653424	236653424	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:236653424G>T	ENST00000409538.1	+	5	1770	c.1274G>T	c.(1273-1275)aGt>aTt	p.S425I	AGAP1_ENST00000336665.5_Missense_Mutation_p.S160I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S160I|AGAP1_ENST00000304032.7_Missense_Mutation_p.S160I|AGAP1_ENST00000428334.2_5'UTR			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	160	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACTACTACAGTCGAATGGCC	0.478000													7	116					1.26484e-09	1.52488e-09	0.038147	1	0
YIPF7	285525	broad.mit.edu	37	4	44626769	44626769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:44626769C>A	ENST00000332990.5	-	5	545	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	177						endoplasmic reticulum membrane|integral to membrane		p.G177C(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCACTCATGCCATACACATAA	0.478000													3	25					0.014758	0.0150571	0.184627	1	0
AGXT2	64902	broad.mit.edu	37	5	34998886	34998886	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:34998886C>G	ENST00000231420.6	-	14	1683	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	495					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.D495H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACTGCAAAATCAACTTCTGGT	0.358000													5	151					0	0	0.029380	0	0
C7	730	broad.mit.edu	37	5	40964907	40964907	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:40964907T>A	ENST00000313164.9	+	14	2173	c.1814T>A	c.(1813-1815)cTt>cAt	p.L605H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	605	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.L605H(1)					Ovarian(839;0.0112)				GGATACTCTCTTATTGGAAAC	0.393000													7	225					0	0	0.038147	0	0
LZTS2	84445	broad.mit.edu	37	10	102763886	102763886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:102763886G>T	ENST00000370220.1	+	2	4094	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	LZTS2_ENST00000370223.3_Missense_Mutation_p.R344L			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	344					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.R344L(2)|p.R207L(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGCAGCTGCGGGACAGTCTG	0.622000													36	74					4.67007e-22	7.19571e-22	0.104719	1	0
ISLR	3671	broad.mit.edu	37	15	74467708	74467708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:74467708C>T	ENST00000249842.3	+	2	866	c.509C>T	c.(508-510)aCc>aTc	p.T170I	ISLR_ENST00000395118.1_Missense_Mutation_p.T170I|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	170					cell adhesion	extracellular region		p.T170I(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACCCCGCTCACCGCGCTGTCC	0.657000													25	44					0	0	0.083992	0	0
RAG1	5896	broad.mit.edu	37	11	36597537	36597537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:36597537G>T	ENST00000299440.5	+	2	2795	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	895					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V895L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGAAACCAGTATGGCGATC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				26	151					1.42536e-11	1.80485e-11	0.099896	1	0
AFF4	27125	broad.mit.edu	37	5	132270357	132270357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:132270357G>A	ENST00000265343.5	-	3	779	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	AFF4_ENST00000378595.3_Nonsense_Mutation_p.Q134*|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	134	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.Q134*(2)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTCCGCTGGCTACTATGT	0.532000													27	67					0	0	0.153744	0	0
HYDIN	54768	broad.mit.edu	37	16	70908208	70908208	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:70908208C>A	ENST00000393567.2	-	64	11098	c.10948_splice	c.e64+1	p.A3650_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3650								p.A3601S(2)|p.A3649S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTCCCACCTGCCACCAAG	0.458000													40	238					2.56175e-15	3.51658e-15	0.139131	1	0
WDR36	134430	broad.mit.edu	37	5	110440497	110440497	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:110440497A>T	ENST00000506538.2	+	9	1749	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	WDR36_ENST00000505303.1_Silent_p.G336G|WDR36_ENST00000513710.2_Silent_p.G392G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	392					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.G392G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACAGAATGGACAGCAGATTC	0.398000													18	307					0	0	0.204396	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067033	18067033	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:18067033T>A	ENST00000506618.2	-	1	453	c.373A>T	c.(373-375)Atc>Ttc	p.I125F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	125					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.I125F(4)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCATGGTGATGATATGATCC	0.463000													79	149					0	0	0.139131	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313590	17313590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:17313590C>A	ENST00000452699.1	-	26	3208	c.3019G>T	c.(3019-3021)Gtg>Ttg	p.V1007L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.V968L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.V1012L|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	1012					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.V1012L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACGCCGGTCACCAGGACCATC	0.711000													31	59					1.74807e-11	2.20886e-11	0.153744	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110478928	110478928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:110478928C>A	ENST00000378402.5	+	50	8639	c.8535C>A	c.(8533-8535)caC>caA	p.H2845Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2845					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.H2847Q(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGCTTTCACCGTTTAGCGT	0.438000										HNSCC(38;0.096)			28	48					1.17739e-12	1.5228e-12	0.108266	1	0
LRAT	9227	broad.mit.edu	37	4	155670250	155670250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:155670250G>T	ENST00000336356.3	+	3	908	c.655G>T	c.(655-657)Gca>Tca	p.A219S	LRAT_ENST00000507827.1_Missense_Mutation_p.A219S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	219					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	p.A219S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TACCCTTCCTGCAATTTTTAT	0.393000													89	347					7.15876e-41	1.32839e-40	0.139131	1	0
STEAP4	79689	broad.mit.edu	37	7	87913403	87913403	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:87913403C>T	ENST00000380079.4	-	2	283	c.182G>A	c.(181-183)gGt>gAt	p.G61D	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G61D|STEAP4_ENST00000414498.1_Missense_Mutation_p.G61D	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	61					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.G61D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GACTTCTGCACCACTGGGCAG	0.438000													39	208					0	0	0.086207	0	0
NDST4	64579	broad.mit.edu	37	4	115773883	115773883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:115773883G>C	ENST00000264363.2	-	8	2492	c.1814C>G	c.(1813-1815)aCa>aGa	p.T605R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	605	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T605R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGG	0.303000													20	56					0	0	0.062417	0	0
CFHR4	10877	broad.mit.edu	37	1	196871741	196871741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:196871741C>A	ENST00000367416.2	+	2	386	c.249C>A	c.(247-249)tgC>tgA	p.C83*	CFHR4_ENST00000251424.4_Nonsense_Mutation_p.C84*|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C83*(2)|p.C84*(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CGGTCCCATGCCTCAGTAAGT	0.348000													69	193					2.34191e-24	3.74705e-24	0.139131	1	0
DFNB31	25861	broad.mit.edu	37	9	117166348	117166348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:117166348G>T	ENST00000362057.3	-	10	2414	c.2246C>A	c.(2245-2247)aCg>aAg	p.T749K	DFNB31_ENST00000265134.6_Missense_Mutation_p.T366K|DFNB31_ENST00000374059.3_Missense_Mutation_p.T398K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	749					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.T749K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGAGCGTAGAGGCTGC	0.632000													23	46					3.62473e-10	4.41399e-10	0.062417	1	0
PIP4K2B	8396	broad.mit.edu	37	17	36935738	36935738	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:36935738C>T	ENST00000269554.3	-	5	1032	c.552G>A	c.(550-552)ctG>ctA	p.L184L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	184	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	p.L184L(3)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTACATGCCCAGGAACTGTG	0.517000													38	89					0	0	0.111260	0	0
A1CF	29974	broad.mit.edu	37	10	52580401	52580401	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:52580401C>G	ENST00000395489.2	-	10	1153	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	A1CF_ENST00000374001.1_Missense_Mutation_p.E260Q|A1CF_ENST00000282641.2_Missense_Mutation_p.E260Q|A1CF_ENST00000373993.1_Missense_Mutation_p.E260Q|A1CF_ENST00000373997.3_Missense_Mutation_p.E260Q|A1CF_ENST00000395495.1_Missense_Mutation_p.E205Q|A1CF_ENST00000373995.3_Missense_Mutation_p.E268Q|A1CF_ENST00000493415.1_5'UTR	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	260	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E260Q(2)|p.E268Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCACCCTCTCCACAGCACCT	0.388000													12	101					0	0	0.093190	0	0
TRAV4	28689	broad.mit.edu	37	14	22205254	22205254	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22205254C>A	ENST00000390426.2	+	0	385																											ACTACTGCCTCGTGGGTGACA	0.557000													12	38					7.93312e-07	8.93123e-07	0.119110	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130340820	130340820	+	Missense_Mutation	SNP	G	G	A	rs147190472		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:130340820G>A	ENST00000299164.2	+	6	1726	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	576	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G576R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTAGCCTCCGGAAAGAGCTT	0.602000													35	587					0	0	0.203993	0	0
NLRP3	114548	broad.mit.edu	37	1	247587802	247587802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247587802G>T	ENST00000366497.2	+	4	1837	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	NLRP3_ENST00000336119.3_Missense_Mutation_p.V353L|NLRP3_ENST00000348069.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391828.3_Missense_Mutation_p.V353L|NLRP3_ENST00000366496.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391827.2_Missense_Mutation_p.V353L|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	353	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V353L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACGAGACCTGTGGCCCTGGA	0.557000													66	187					6.52717e-41	1.21305e-40	0.139131	1	0
KIAA1524	57650	broad.mit.edu	37	3	108278693	108278693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:108278693C>A	ENST00000295746.8	-	16	2000	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D483Y	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	642						cytoplasm|integral to membrane	protein binding	p.D642Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAAAGATCTTGTAGCCTG	0.353000													23	80					6.44725e-10	7.81172e-10	0.069288	1	0
SEMA3A	10371	broad.mit.edu	37	7	83640407	83640407	+	Splice_Site	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:83640407T>C	ENST00000265362.3	-	9	1240	c.925_splice	c.e9-1	p.Q309_splice	SEMA3A_ENST00000436949.1_Splice_Site_p.Q309_splice	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	309	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.Q309R(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAATACATCCTCTGTTTAAAA	0.313000													27	69					0	0	0.099896	0	0
RIMS2	9699	broad.mit.edu	37	8	104943527	104943527	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:104943527A>G	ENST00000507740.1	+	9	1893	c.1657A>G	c.(1657-1659)Ata>Gta	p.I553V	RIMS2_ENST00000406091.3_Missense_Mutation_p.I761V|RIMS2_ENST00000262231.10_Missense_Mutation_p.I600V|RIMS2_ENST00000436393.2_Missense_Mutation_p.I539V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	823					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.I553V(4)|p.I828V(2)|p.I539V(2)|p.I761V(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACCAATTAATAGTTACAAT	0.338000										HNSCC(12;0.0054)			15	143					0	0	0.146539	0	0
IPO8	10526	broad.mit.edu	37	12	30783888	30783888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:30783888G>T	ENST00000256079.4	-	25	3358	c.3020C>A	c.(3019-3021)gCa>gAa	p.A1007E	IPO8_ENST00000544829.1_Missense_Mutation_p.A802E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.A1007E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCTTCTTTGCCTCTAGCAT	0.398000													44	85					1.76056e-25	2.85087e-25	0.124865	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283669	151283669	+	RNA	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:151283669T>A	ENST00000509345.2	-	0	667																											ATGAATCAAGTCAGCCACCTT	0.498000													7	147					0	0	0.029380	0	0
DIO2	1734	broad.mit.edu	37	14	80669342	80669342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:80669342G>T	ENST00000557010.1	-	4	897	c.512C>A	c.(511-513)gCg>gAg	p.A171E	DIO2_ENST00000557125.1_Silent_p.R46R|DIO2_ENST00000555750.1_Missense_Mutation_p.A207E|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A171E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	171					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.A207E(2)|p.A171E(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCGGTATCGCCCAGCCATC	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	84					2.4624e-09	2.94512e-09	0.204396	1	0
ELF1	1997	broad.mit.edu	37	13	41507884	41507884	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:41507884G>C	ENST00000239882.3	-	9	1851	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q489E	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	513					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q513E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAATGGTCTGAACATTGCTA	0.517000													13	127					0	0	0.093190	0	0
SYTL2	54843	broad.mit.edu	37	11	85459316	85459316	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:85459316T>A	ENST00000316356.4	-	3	816	c.253_splice	c.e3+1	p.A84_splice	SYTL2_ENST00000389960.4_Splice_Site_p.A84_splice|SYTL2_ENST00000524452.1_Splice_Site_p.A84_splice|SYTL2_ENST00000528231.1_Splice_Site_p.A84_splice|SYTL2_ENST00000527523.1_Splice_Site_p.A36_splice			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	84					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.A84A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCAACTCACCTGCTATCTGGG	0.468000													92	165					0	0	0.139131	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555000	22555000	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22555000G>A	ENST00000390451.2	+	0	171																											TGATAGTCCAGAAAGGAGGGA	0.428000													8	64					0	0	0.038147	0	0
TRIM71	131405	broad.mit.edu	37	3	32933145	32933145	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:32933145C>T	ENST00000383763.4	+	4	2512	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	817					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGGAACCATCGGGTACAGAT	0.602000													8	172					0	0	0.069234	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212589	1212589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:1212589C>T	ENST00000304460.10	+	4	709	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	218					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T218I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCGAGACCACCGGGAAG	0.672000													38	180					0	0	0.086207	0	0
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:117718572G>A	ENST00000317775.6	-	8	2167	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000338101.4_Silent_p.D494D|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617000													13	77					0	0	0.132662	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396906	36396906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:36396906C>A	ENST00000317020.6	-	2	619	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	KIAA0895_ENST00000297063.6_Missense_Mutation_p.V158L|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.V145L|KIAA0895_ENST00000338533.5_Missense_Mutation_p.V145L|KIAA0895_ENST00000436884.1_Missense_Mutation_p.V7L|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.V107L	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	158								p.V158L(2)|p.V145L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCTTGTCACAGGCACCAGG	0.473000													58	154					1.17253e-29	2.00625e-29	0.139131	1	0
CNTN2	6900	broad.mit.edu	37	1	205030382	205030382	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:205030382C>A	ENST00000331830.4	+	8	1091	c.807C>A	c.(805-807)ccC>ccA	p.P269P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	269	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P269P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCTGTCCCCCGGATCAAGT	0.652000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	77					2.31682e-05	2.5282e-05	0.132662	1	0
PPM1G	5496	broad.mit.edu	37	2	27605369	27605369	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:27605369G>T	ENST00000344034.4	-	8	1569	c.1305C>A	c.(1303-1305)ttC>ttA	p.F435L	PPM1G_ENST00000350803.4_Missense_Mutation_p.F435L	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	435					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CAATGACCATGAATTCATGGT	0.483000													8	332					0.000157383	0.000167801	0.038147	1	0
MUC17	140453	broad.mit.edu	37	7	100680895	100680895	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:100680895A>C	ENST00000306151.4	+	3	6262	c.6198A>C	c.(6196-6198)acA>acC	p.T2066T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2066	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2066T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.488000													53	264					0	0	0.139131	0	0
SETBP1	26040	broad.mit.edu	37	18	42533120	42533120	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:42533120G>C	ENST00000282030.5	+	4	4111	c.3815G>C	c.(3814-3816)aGc>aCc	p.S1272T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1272						nucleus	DNA binding	p.S1218T(2)|p.S1272T(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGGTGGCAGCACGAGATCA	0.532000									Schinzel-Giedion syndrome				13	45					0	0	0.093190	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162774	33162774	+	RNA	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:33162774A>C	ENST00000510327.1	-	0	346																											AGTCTCCTGGAAGAGCAGTTC	0.453000													13	46					0	0	0.105934	0	0
CTNNA3	29119	broad.mit.edu	37	10	68936738	68936738	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:68936738C>G	ENST00000545309.1	-	7	1051	c.1052G>C	c.(1051-1053)tGt>tCt	p.C351S	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron			Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	801					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						cttttgattacagagctgaaa	0.358000													5	19					0	0	0.029380	0	0
TFPT	29844	broad.mit.edu	37	19	54618637	54618637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:54618637G>C	ENST00000391759.1	-	1	418	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	TFPT_ENST00000391757.1_Missense_Mutation_p.Q5E	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	5					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	p.Q5E(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCTTCTCTCTGCTCCAATTCC	0.522000			T	TCF3	pre-B ALL						OREG0003633|OREG0003635	type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	138					0	0	0.058154	0	0
UCMA	221044	broad.mit.edu	37	10	13264144	13264144	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:13264144C>A	ENST00000378681.3	-	5	448	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	UCMA_ENST00000463405.2_Missense_Mutation_p.G104C	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	126						proteinaceous extracellular matrix		p.G126C(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGGTGCAGGCCGTCATAGTGC	0.587000													12	49					0.00010058	0.000108	0.093190	1	0
GPR63	81491	broad.mit.edu	37	6	97246908	97246908	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:97246908T>G	ENST00000229955.3	-	2	1045	c.700A>C	c.(700-702)Aca>Cca	p.T234P	GPR63_ENST00000417980.1_Missense_Mutation_p.T234P	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	234						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.T234P(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGATTGGTTGTGTACCCAAAC	0.448000													64	132					0	0	0.139131	0	0
RIMS1	22999	broad.mit.edu	37	6	72806785	72806785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:72806785G>T	ENST00000264839.7	+	3	379	c.379G>T	c.(379-381)Ggg>Tgg	p.G127W	RIMS1_ENST00000491071.2_Missense_Mutation_p.G127W|RIMS1_ENST00000522291.1_Missense_Mutation_p.G127W|RIMS1_ENST00000517960.1_Missense_Mutation_p.G127W|RIMS1_ENST00000521978.1_Missense_Mutation_p.G127W|RIMS1_ENST00000518273.1_Missense_Mutation_p.G127W|RIMS1_ENST00000520567.1_Missense_Mutation_p.G127W|RIMS1_ENST00000348717.5_Missense_Mutation_p.G127W			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	127	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G127W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTTTGCTGATGGGTGCGGTCA	0.507000													21	63					1.96292e-10	2.40488e-10	0.055883	1	0
DIP2C	22982	broad.mit.edu	37	10	409175	409175	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:409175C>T	ENST00000280886.6	-	21	2641	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.E173K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	852						nucleus	catalytic activity|transcription factor binding	p.E852K(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTCCTCTTCCGTGGAGTCA	0.607000													18	42					0	0	0.189662	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986279	51986279	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51986279G>C	ENST00000396477.4	+	4	703	c.682G>C	c.(682-684)Gac>Cac	p.D228H	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D289H	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	289						integral to membrane		p.D289H(2)|p.D228H(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGGGCCCGACTATGTGCT	0.552000													97	222					0	0	0.139131	0	0
KLHL6	89857	broad.mit.edu	37	3	183209920	183209920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:183209920G>C	ENST00000341319.3	-	7	1696	c.1661C>G	c.(1660-1662)gCg>gGg	p.A554G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	554								p.A554G(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTGCAGGGCGCGATACCGCA	0.657000													20	68					0	0	0.153744	0	0
SMC1B	27127	broad.mit.edu	37	22	45802673	45802673	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:45802673T>A	ENST00000357450.4	-	3	371	c.372A>T	c.(370-372)atA>atT	p.I124I	SMC1B_ENST00000404354.3_Silent_p.I124I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	124					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.I124I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATTATGCCTATCTTTTCCA	0.299000													38	90					0	0	0.098360	0	0
CSMD3	114788	broad.mit.edu	37	8	113299394	113299394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113299394G>A	ENST00000297405.5	-	58	9474	c.9230C>T	c.(9229-9231)aCt>aTt	p.T3077I	CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22.					integral to membrane|plasma membrane		p.T3037I(1)|p.T3077I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAACGTACAGTACTTTTAGT	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	333					0	0	0.038147	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33631016	33631016	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:33631016G>A	ENST00000504830.1	-	13	2226	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H631Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACAAGGATGTGCTGAAGGG	0.488000										HNSCC(64;0.19)			7	150					0	0	0.038147	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049651	69049651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:69049651C>A	ENST00000295381.3	+	10	1796	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S453R|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S460R|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.S153R|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S452R|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.S420R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S453R(2)|p.S460R(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCCAACAGCAGCAAAATGG	0.478000													36	188					2.47316e-13	3.2509e-13	0.183431	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181997	140181997	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140181997C>T	ENST00000522353.2	+	1	1215	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y405Y	NM_018906.2	NP_061729.1												p.Y405Y(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATTACTACTCATTGGTGC	0.627000													94	175					0	0	0.139131	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89196831	89196831	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:89196831C>G	ENST00000390244.2	+	0	84																											AGGTTCACCTCCTCAGCTTCC	0.453000													9	38					0	0	0.069234	0	0
SAPCD2	89958	broad.mit.edu	37	9	139959973	139959973	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:139959973C>T	ENST00000409687.3	-	3	959		c.e3+1			NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2							cytoplasm|nucleus		p.?(1)									GTGGCACTCACGGCGCTGGCT	0.682000													8	57					0	0	0.058154	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505620	44505620	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:44505620C>T	ENST00000255152.2	+	2	632	c.423C>T	c.(421-423)gcC>gcT	p.A141A	ZSWIM3_ENST00000454862.2_Silent_p.A135A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	141							zinc ion binding	p.A141A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTGACACTGCCGAGAAGTCCC	0.517000													13	93					0	0	0.093190	0	0
GMEB1	10691	broad.mit.edu	37	1	29041146	29041146	+	Missense_Mutation	SNP	C	C	T	rs148243859		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:29041146C>T	ENST00000373816.1	+	10	1691	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Missense_Mutation_p.P528L|GMEB1_ENST00000361872.4_Missense_Mutation_p.P518L	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	p.P518L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGCCCCGGACCCAGAA	0.532000													19	128					0	0	0.175082	0	0
OR4D5	219875	broad.mit.edu	37	11	123810656	123810656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:123810656G>T	ENST00000307033.2	+	1	407	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K111N(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGGCATCAAGATCTTCCTGC	0.498000													77	141					1.42344e-19	2.13869e-19	0.139131	1	0
INSL5	10022	broad.mit.edu	37	1	67266839	67266839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:67266839G>T	ENST00000304526.2	-	1	100	c.66C>A	c.(64-66)agC>agA	p.S22R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	22						extracellular region	hormone activity	p.S22R(2)		breast(2)|endometrium(1)|lung(5)	8						CAGACTCCTTGCTCCGCACTT	0.463000													36	97					6.84511e-11	8.48963e-11	0.183431	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478264	14478264	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:14478264G>T	ENST00000581457.1	-	0	1644					NR_024076.1																						AGGTGGGAGAGTTGGACTCTG	0.488000													14	52					4.36969e-10	5.30511e-10	0.105934	1	0
SPTBN2	6712	broad.mit.edu	37	11	66478225	66478225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:66478225T>A	ENST00000533211.1	-	10	1232	c.901A>T	c.(901-903)Atg>Ttg	p.M301L	SPTBN2_ENST00000309996.2_Missense_Mutation_p.M301L|SPTBN2_ENST00000529997.1_Missense_Mutation_p.M301L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	301					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.M301L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTGCCTCCATGGCATGGTCC	0.632000													11	87					0	0	0.132662	0	0
C8B	732	broad.mit.edu	37	1	57409484	57409484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:57409484G>T	ENST00000543257.1	-	9	1529	c.963C>A	c.(961-963)aaC>aaA	p.N321K	C8B_ENST00000535057.1_Missense_Mutation_p.N311K|C8B_ENST00000371237.4_Missense_Mutation_p.N373K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	373	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.N373K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATGGACGTTGTTAAGAGTAT	0.438000													19	135					1.67942e-08	1.96964e-08	0.175082	1	0
IPO8	10526	broad.mit.edu	37	12	30837234	30837234	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:30837234C>A	ENST00000256079.4	-	3	662		c.e3+1			NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCACCACATACCTCACTAAAT	0.398000													43	122					3.76604e-16	5.25939e-16	0.117977	1	0
PALD1	27143	broad.mit.edu	37	10	72293678	72293678	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:72293678G>T	ENST00000263563.6	+	8	1139	c.870_splice	c.e8-1	p.E291_splice		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.E291*(2)									TCTTTCCCAGGAGACCCCCAG	0.652000													9	93					4.68919e-08	5.44667e-08	0.069234	1	0
FAM65B	9750	broad.mit.edu	37	6	24843104	24843104	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:24843104C>G	ENST00000259698.4	-	14	2081	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000540914.1_Missense_Mutation_p.D586H|FAM65B_ENST00000538035.1_Missense_Mutation_p.D615H|FAM65B_ENST00000378023.4_Missense_Mutation_p.D586H|FAM65B_ENST00000510784.2_Missense_Mutation_p.D620H	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	636					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.D586H(2)|p.D636H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGAATATCATCCAAATTCATG	0.343000													29	83					0	0	0.134883	0	0
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:26688465G>C	ENST00000436292.1	-	7	1372	c.1252C>G	c.(1252-1254)Cgc>Ggc	p.R418G	ZNF683_ENST00000374204.1_Missense_Mutation_p.R398G|ZNF683_ENST00000349618.3_Missense_Mutation_p.R398G|ZNF683_ENST00000403843.1_Missense_Mutation_p.R418G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R398G(2)|p.R403G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAGTGCAGGCGCAGGTGGGTC	0.637000													43	98					0	0	0.111260	0	0
ZNF746	155061	broad.mit.edu	37	7	149174740	149174740	+	Silent	SNP	G	G	C	rs145793561	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:149174740G>C	ENST00000340622.3	-	5	907	c.627C>G	c.(625-627)gcC>gcG	p.A209A	ZNF746_ENST00000458143.2_Silent_p.A209A			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	209					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.A209A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTGGCTGCCCGGCTGCCCACG	0.662000													38	72					0	0	0.214465	0	0
CUBN	8029	broad.mit.edu	37	10	17169920	17169920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:17169920G>A	ENST00000377833.4	-	3	321	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CUBN_ENST00000377823.1_Nonsense_Mutation_p.Q86*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	86					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTTTTCTGGATCTAATTT	0.284000													12	128					0	0	0.080935	0	0
OR8B12	219858	broad.mit.edu	37	11	124413479	124413479	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:124413479G>T	ENST00000306842.2	-	1	96	c.72C>A	c.(70-72)atC>atA	p.I24I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I24I(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAGAGGGGGATCCGCAGTC	0.547000													76	148					9.34078e-37	1.70191e-36	0.139131	1	0
SCN11A	11280	broad.mit.edu	37	3	38936055	38936055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:38936055T>A	ENST00000302328.3	-	15	3002	c.2804A>T	c.(2803-2805)cAg>cTg	p.Q935L	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q935L|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q935L|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q935L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	935					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q935L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGATGCGCTGTGCATTATC	0.488000													6	408					0	0	0.029380	0	0
TEX2	55852	broad.mit.edu	37	17	62272302	62272302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:62272302C>A	ENST00000258991.3	-	3	1882	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	TEX2_ENST00000584379.1_Nonsense_Mutation_p.E600*|TEX2_ENST00000583097.1_Nonsense_Mutation_p.E600*			Q8IWB9	TEX2_HUMAN	testis expressed 2	600					signal transduction|sphingolipid metabolic process	integral to membrane		p.E600*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAGGTGACCTCTGGCTTGGGT	0.443000													48	159					1.41401e-22	2.20563e-22	0.139131	1	0
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:12880890G>T	ENST00000155926.4	+	3	2421	c.1002G>T	c.(1000-1002)atG>atT	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512000													16	75					3.32936e-07	3.7764e-07	0.175082	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	75					0	0	0.115264	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690476	77690476	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:77690476C>A	ENST00000521891.2	+	4	3574	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P	ZFHX4_ENST00000050961.6_Silent_p.P1016P|ZFHX4_ENST00000455469.2_Silent_p.P1016P|ZFHX4_ENST00000518282.1_Silent_p.P1016P|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGAATCCCGAATCCTGCT	0.483000										HNSCC(33;0.089)			111	213					5.27813e-61	1.02838e-60	0.139131	1	0
TENM4	26011	broad.mit.edu	37	11	78468036	78468036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:78468036C>A	ENST00000278550.7	-	19	3032	c.2570G>T	c.(2569-2571)tGc>tTc	p.C857F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.C857F(4)									CTGGAGGCAGCAGTCAGGGTC	0.537000													19	50					8.00594e-06	8.8402e-06	0.189662	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418949	105418949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:105418949C>A	ENST00000333244.5	-	7	2958	c.2839G>T	c.(2839-2841)Ggc>Tgc	p.G947C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	947						nucleus		p.G947C(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTTGGGGCCTTTCAGGTCC	0.607000													85	410					2.36867e-37	4.33538e-37	0.139131	1	0
PLB1	151056	broad.mit.edu	37	2	28855888	28855888	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:28855888C>T	ENST00000422425.2	+	55	4091	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	PLB1_ENST00000541605.1_Silent_p.I325I|PLB1_ENST00000327757.5_Silent_p.I1360I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.I1349I(2)|p.I1360I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGATGGCCATCGCACTCTGGA	0.547000													20	145					0	0	0.062417	0	0
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:40468681C>T	ENST00000287598.6	+	5	583	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	BUB1B_ENST00000412359.3_Missense_Mutation_p.R144C|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R130C(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				40	95					0	0	0.111260	0	0
METTL4	64863	broad.mit.edu	37	18	2566948	2566948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:2566948G>A	ENST00000319888.6	-	2	1066	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL4_ENST00000574538.1_Missense_Mutation_p.P90S			Q8N3J2	METL4_HUMAN	methyltransferase like 4	90					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.P90S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAGTTCAGGTCGAAAAACA	0.368000													22	114					0	0	0.062417	0	0
SCAF11	9169	broad.mit.edu	37	12	46320773	46320773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:46320773C>A	ENST00000465950.1	-	1	2975	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V	SCAF11_ENST00000419565.2_Missense_Mutation_p.G904V|SCAF11_ENST00000369367.3_Missense_Mutation_p.G904V|SCAF11_ENST00000549162.1_Missense_Mutation_p.G712V			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	904					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.G904V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTCTCCTGGGGAAGA	0.458000													200	270					2.40591e-75	4.73344e-75	0.139131	1	0
PDGFA	5154	broad.mit.edu	37	7	540753	540753	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:540753C>A	ENST00000402802.3	-	5	987	c.580_splice	c.e5+1	p.D194_splice	PDGFA_ENST00000354513.5_Splice_Site_p.G194_splice	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	0					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.G194*(2)|p.D194Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		AGCCACTCACCCGTGTCCTCT	0.552000													33	319					1.69901e-12	2.18109e-12	0.080422	1	0
OR2T8	343172	broad.mit.edu	37	1	248084416	248084416	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248084416G>T	ENST00000319968.4	+	1	97	c.97G>T	c.(97-99)Gtt>Ttt	p.V33F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGAGTATCGTTTTGACCTC	0.483000													31	200					2.87052e-16	4.02272e-16	0.080422	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65208508	65208508	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:65208508A>G	ENST00000247226.7	+	14	2413	c.2105A>G	c.(2104-2106)aAc>aGc	p.N702S	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.N263S|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.N291S|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.N758S|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	758					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.N702S(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCCAGGTTCAACAGCCTTCCC	0.602000													74	224					0	0	0.139131	0	0
ERG	2078	broad.mit.edu	37	21	39775598	39775598	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:39775598T>G	ENST00000442448.1	-	6	714	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	ERG_ENST00000398907.1_Missense_Mutation_p.Q141P|ERG_ENST00000429727.2_Intron|ERG_ENST00000288319.7_Missense_Mutation_p.Q141P|ERG_ENST00000398905.1_Missense_Mutation_p.Q141P|ERG_ENST00000453032.2_Missense_Mutation_p.Q49P|ERG_ENST00000398919.2_Missense_Mutation_p.Q148P|ERG_ENST00000398911.1_Missense_Mutation_p.Q148P|ERG_ENST00000417133.2_Missense_Mutation_p.Q148P|ERG_ENST00000398897.1_Missense_Mutation_p.Q49P|ERG_ENST00000398910.1_Missense_Mutation_p.Q148P	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	148	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q148P(2)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCCAGCCACTGCCGCACATG	0.507000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								17	73					0	0	0.069288	0	0
NRSN1	140767	broad.mit.edu	37	6	24134721	24134721	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:24134721A>T	ENST00000378491.4	+	3	467	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	NRSN1_ENST00000378475.1_Missense_Mutation_p.R56W|NRSN1_ENST00000378478.1_Missense_Mutation_p.R56W	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	56					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.R56W(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTAACAGGTGGAGCTC	0.453000													21	94					0	0	0.069288	0	0
HES2	54626	broad.mit.edu	37	1	6479306	6479306	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:6479306G>A	ENST00000377834.4	-	3	334	c.236C>T	c.(235-237)gCg>gTg	p.A79V	HES2_ENST00000487437.1_Intron|HES2_ENST00000489730.1_Missense_Mutation_p.A79V|HES2_ENST00000377836.4_Intron|HES2_ENST00000377837.1_Intron	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A79V(1)		lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCACGGGGCGCTGCCGTGGG	0.701000													8	28					0	0	0.069234	0	0
RCC2	55920	broad.mit.edu	37	1	17765004	17765004	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:17765004T>A	ENST00000375436.4	-	2	194	c.7A>T	c.(7-9)Agg>Tgg	p.R3W	RCC2_ENST00000375433.3_Missense_Mutation_p.R3W	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	3					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		p.R3W(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GCCTTCTTCCTGGGCATGGTC	0.751000													3	8					0	0	0.021553	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432850	73432850	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:73432850C>A	ENST00000263666.4	-	10	2981	c.2867G>T	c.(2866-2868)gGc>gTc	p.G956V	PDZRN3_ENST00000535920.1_Missense_Mutation_p.G678V|PDZRN3_ENST00000462146.2_Missense_Mutation_p.G613V|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G673V|PDZRN3_ENST00000466780.1_Missense_Mutation_p.G613V	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	956							ubiquitin-protein ligase activity|zinc ion binding	p.G956V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGGTCATGCCGCTGCGCTC	0.667000													34	76					7.11191e-15	9.64218e-15	0.173368	1	0
PHF21A	51317	broad.mit.edu	37	11	45975093	45975093	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:45975093C>A	ENST00000257821.4	-	10	1703	c.1080G>T	c.(1078-1080)cgG>cgT	p.R360R	PHF21A_ENST00000418153.2_Silent_p.R359R|PHF21A_ENST00000323180.6_Silent_p.R360R|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	359					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	p.R360R(2)|p.R359R(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GGTTCTCCTCCCGTTTTGGTT	0.478000													9	94					0.000442599	0.000467769	0.058154	1	0
UTP20	27340	broad.mit.edu	37	12	101723088	101723088	+	Missense_Mutation	SNP	G	G	A	rs142628447		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:101723088G>A	ENST00000261637.4	+	27	3452	c.3278G>A	c.(3277-3279)cGt>cAt	p.R1093H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1093					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCTTTAGGTCGTCAGCACGGT	0.423000													5	232					0	0	0.184627	0	0
STXBP1	6812	broad.mit.edu	37	9	130420719	130420719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:130420719C>G	ENST00000373302.3	+	4	374	c.235C>G	c.(235-237)Cca>Gca	p.P79A	STXBP1_ENST00000373299.1_Missense_Mutation_p.P79A	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	79					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.P79A(4)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCATCACTCCATCCGAGAA	0.483000													43	326					0	0	0.124865	0	0
CREBBP	1387	broad.mit.edu	37	16	3860755	3860755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:3860755G>T	ENST00000262367.5	-	3	1633	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.P275Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	275	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGTCCAAATGGACTTGTGTT	0.498000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	125					0.00909568	0.00931151	0.150653	1	0
ZNF236	7776	broad.mit.edu	37	18	74672732	74672732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:74672732C>G	ENST00000253159.8	+	30	5532	c.5334C>G	c.(5332-5334)taC>taG	p.Y1778*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Y1780*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1778					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y1778*(3)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCGGCCCTACAAGTGTGCCT	0.587000													12	116					0	0	0.080935	0	0
ADRBK1	156	broad.mit.edu	37	11	67049774	67049774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:67049774C>G	ENST00000308595.5	+	12	1280	c.990C>G	c.(988-990)caC>caG	p.H330Q	ADRBK1_ENST00000526285.1_Missense_Mutation_p.H330Q|ADRBK1_ENST00000527176.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	330	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.H330Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGGCCACGTGCGGATCT	0.657000													22	291					0	0	0.076483	0	0
HMCN1	83872	broad.mit.edu	37	1	185892747	185892747	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:185892747A>G	ENST00000271588.4	+	8	1476	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q416R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	416					response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q416R(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACCTCTTCCAGAGAGTATCA	0.358000													59	168					0	0	0.139131	0	0
TRMT2B	79979	broad.mit.edu	37	X	100278506	100278506	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:100278506C>T	ENST00000338687.7	-	7	1379	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	TRMT2B_ENST00000372931.5_Missense_Mutation_p.G237R|TRMT2B_ENST00000372935.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G237R|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G192R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G237R			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	237							tRNA (uracil-5-)-methyltransferase activity	p.G237R(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATTGTGTGCCCTTGGCTATTG	0.443000													65	104					0	0	0.139131	0	0
NMRK2	27231	broad.mit.edu	37	19	3939950	3939950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:3939950G>T	ENST00000168977.2	+	6	666	c.376G>T	c.(376-378)Gag>Tag	p.E126*	NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Nonsense_Mutation_p.E131*	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2									p.E126*(2)									CCCGTATGAAGAGTGCAAGTG	0.602000													10	33					1.15088e-07	1.32154e-07	0.146539	1	0
LCE3D	84648	broad.mit.edu	37	1	152552359	152552359	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152552359T>G	ENST00000368787.3	-	2	110	c.54A>C	c.(52-54)tcA>tcC	p.S18S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	18					keratinization			p.S18S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GACACTTGGGTGAGGGACACT	0.597000													73	217					0	0	0.139131	0	0
SCRN1	9805	broad.mit.edu	37	7	29966088	29966088	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:29966088C>T	ENST00000426154.1	-	7	1242	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	SCRN1_ENST00000416113.2_Missense_Mutation_p.A182T|SCRN1_ENST00000242059.5_Missense_Mutation_p.A356T|SCRN1_ENST00000409497.1_Missense_Mutation_p.A356T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	356					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A376T(1)|p.A356T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TCGATGATGGCACGTGCCCAC	0.622000													27	272					0	0	0.144211	0	0
HECW1	23072	broad.mit.edu	37	7	43283518	43283518	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:43283518T>A	ENST00000395891.1	+	3	619	c.14T>A	c.(13-15)cTg>cAg	p.L5Q	HECW1_ENST00000453890.1_Missense_Mutation_p.L5Q|AC004692.4_ENST00000457315.1_RNA|AC004692.4_ENST00000458680.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	5					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L5Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGCTGCACCTGTGTAGTGTG	0.448000													51	136					0	0	0.139131	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664295	38664295	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:38664295G>A	ENST00000336949.6	+	2	1041	c.96G>A	c.(94-96)gtG>gtA	p.V32V	MID1IP1_ENST00000378474.3_Silent_p.V32V|MID1IP1_ENST00000457894.1_Silent_p.V32V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	32					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		p.V32V(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACCAGACGGTGATGGTGCCCA	0.602000													18	23					0	0	0.069288	0	0
RANGAP1	5905	broad.mit.edu	37	22	41657531	41657531	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:41657531C>A	ENST00000455915.2	-	5	2003	c.534G>T	c.(532-534)aaG>aaT	p.K178N	RANGAP1_ENST00000356244.3_Missense_Mutation_p.K178N|RANGAP1_ENST00000407260.4_Intron|RANGAP1_ENST00000405486.1_Missense_Mutation_p.K178N			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.K178N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCAGAGGCTTGCCTTGGG	0.582000													36	51					1.48734e-19	2.2264e-19	0.131918	1	0
ALMS1P	200420	broad.mit.edu	37	2	73899571	73899571	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:73899571A>G	ENST00000450720.1	+	0	443					NR_003683.2																						GCTCTTTACCAGTTATCCTGA	0.393000													13	21					0	0	0.105934	0	0
MEPE	56955	broad.mit.edu	37	4	88767150	88767150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:88767150C>A	ENST00000497649.2	+	6	1436	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	MEPE_ENST00000361056.3_Missense_Mutation_p.A377E|MEPE_ENST00000395102.4_Missense_Mutation_p.A408E|MEPE_ENST00000560249.1_Missense_Mutation_p.A264E|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.A377E|MEPE_ENST00000540395.1_Missense_Mutation_p.A264E			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	377					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A377E(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACCCTCCTGCACCCTCAAAA	0.438000													19	84					1.67942e-08	1.96964e-08	0.175082	1	0
ITGAD	3681	broad.mit.edu	37	16	31422464	31422464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:31422464T>C	ENST00000389202.2	+	13	1473	c.1424T>C	c.(1423-1425)aTc>aCc	p.I475T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	475					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCGACCTGATCCTCATTGGG	0.642000													6	208					0	0	0.021553	0	0
TET1	80312	broad.mit.edu	37	10	70450858	70450858	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:70450858G>T	ENST00000373644.4	+	12	5907	c.5698G>T	c.(5698-5700)Ggc>Tgc	p.G1900C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1900					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.G1900C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGATGGCCCTGGCATTTCACA	0.567000													16	122					2.23348e-06	2.49127e-06	0.146539	1	0
C1orf173	127254	broad.mit.edu	37	1	75042610	75042610	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:75042610T>A	ENST00000326665.5	-	13	2405	c.2187A>T	c.(2185-2187)tcA>tcT	p.S729S	C1orf173_ENST00000433746.2_Intron	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	729	Glu-rich.							p.S729S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAATGGCAATGAATCCTTTC	0.383000													10	107					0	0	0.069234	0	0
DENND1A	57706	broad.mit.edu	37	9	126641241	126641241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:126641241C>A	ENST00000373624.2	-	2	278	c.77G>T	c.(76-78)gGc>gTc	p.G26V	DENND1A_ENST00000394215.2_Missense_Mutation_p.A11S|DENND1A_ENST00000373618.1_Missense_Mutation_p.A11S|DENND1A_ENST00000373620.3_Missense_Mutation_p.G26V|DENND1A_ENST00000394219.3_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	26	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.G26V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGAAAGAGTGCCACCTGTCCT	0.373000													16	119					5.03518e-11	6.25772e-11	0.189662	1	0
OR4D9	390199	broad.mit.edu	37	11	59282792	59282792	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:59282792T>C	ENST00000329328.3	+	1	407	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATGACCATCATGAGTAGGGGG	0.537000													10	149					0	0	0.069234	0	0
OR2T10	127069	broad.mit.edu	37	1	248756948	248756948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248756948C>G	ENST00000330500.2	-	1	152	c.122G>C	c.(121-123)tGg>tCg	p.W41S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W41S(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAATATTCCAAGACACAGC	0.423000													33	38					0	0	0.163468	0	0
CSMD2	114784	broad.mit.edu	37	1	34209016	34209016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:34209016C>A	ENST00000373381.4	-	14	2214	c.2038G>T	c.(2038-2040)Gcc>Tcc	p.A680S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4.					integral to membrane|plasma membrane	protein binding	p.A640S(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCTCGGCGGTGGCCCCA	0.617000													17	162					1.67942e-08	1.96964e-08	0.175082	1	0
OCM2	4951	broad.mit.edu	37	7	97617832	97617832	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:97617832G>A	ENST00000257627.4	-	2	181	c.90C>T	c.(88-90)ttC>ttT	p.F30F	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	30							calcium ion binding			lung(4)	4						ACGTCTGGAAGAATTTTTGGG	0.468000													11	327					0	0	0.093190	0	0
LTBP3	4054	broad.mit.edu	37	11	65315462	65315462	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:65315462G>A	ENST00000301873.5	-	12	2043	c.1775C>T	c.(1774-1776)cCg>cTg	p.P592L	LTBP3_ENST00000536982.1_Missense_Mutation_p.P218L|LTBP3_ENST00000532932.1_Missense_Mutation_p.P22L|LTBP3_ENST00000322147.4_Missense_Mutation_p.P592L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	592	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding	p.P592L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGGGGGCCCGGCACGCACTC	0.672000													10	64					0	0	0.080935	0	0
PLB1	151056	broad.mit.edu	37	2	28843772	28843772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:28843772C>A	ENST00000422425.2	+	48	3465	c.3421C>A	c.(3421-3423)Ctc>Atc	p.L1141I	PLB1_ENST00000541605.1_Missense_Mutation_p.L117I|PLB1_ENST00000327757.5_Missense_Mutation_p.L1152I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1152	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L1141I(1)|p.L1152I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAACCCTTACCTCCTTGGCTT	0.552000													7	307					8.12818e-05	8.76683e-05	0.029380	1	0
APBB1	322	broad.mit.edu	37	11	6423312	6423312	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:6423312C>T	ENST00000389906.2	-	8	1481	c.1382_splice	c.e8+1	p.S461_splice	APBB1_ENST00000533407.1_Splice_Site_p.R202_splice|APBB1_ENST00000530885.1_Splice_Site_p.R241_splice|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Splice_Site_p.R461_splice|APBB1_ENST00000299402.6_Splice_Site_p.R461_splice	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	461	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R461K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTATTCCCACCTTCCACTGTC	0.577000													7	67					0	0	0.038147	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95210624	95210624	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:95210624G>T	ENST00000354268.4	+	24	3093	c.3019_splice	c.e24-1	p.G1007_splice	SMARCAD1_ENST00000457823.2_Splice_Site_p.G1009_splice|SMARCAD1_ENST00000509418.1_Splice_Site_p.G577_splice			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1007	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1007V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCTACAGGTGATGAAGGG	0.308000													47	282					2.9001e-28	4.89975e-28	0.139131	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250321	140250321	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140250321A>G	ENST00000398640.2	+	1	1633	c.1633A>G	c.(1633-1635)Agc>Ggc	p.S545G	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCTCTGAGCAGCAACGT	0.667000													4	182					0	0	0.119110	0	0
CACNA1E	777	broad.mit.edu	37	1	181759585	181759585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:181759585G>T	ENST00000526775.1	+	43	5899	c.5734G>T	c.(5734-5736)Ggc>Tgc	p.G1912C	CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1931C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1931C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1882C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1538C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1912C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1863C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1931					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G1931C(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTCAGGAGTGGCCGGAGTGG	0.542000													13	54					3.8784e-16	5.41006e-16	0.062417	1	0
DEFB112	245915	broad.mit.edu	37	6	50011302	50011302	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:50011302C>T	ENST00000322246.4	-	2	327	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	110					defense response to bacterium	extracellular region		p.D110N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGACGTGAGTCTTTAGGGTAC	0.408000													20	77					0	0	0.055883	0	0
BRAT1	221927	broad.mit.edu	37	7	2582880	2582880	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:2582880T>C	ENST00000340611.4	-	6	1137	c.881A>G	c.(880-882)cAc>cGc	p.H294R		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	294					response to ionizing radiation	nucleus	protein binding	p.H294R(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGGTCCCATGTGGGTGGGACC	0.642000													26	134					0	0	0.099896	0	0
OBSCN	84033	broad.mit.edu	37	1	228523918	228523918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:228523918C>A	ENST00000570156.2	+	75	19429	c.19355C>A	c.(19354-19356)tCa>tAa	p.S6452*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S3129*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S5495*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S2614*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S5495*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5495					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.S6077*(2)|p.S6207*(2)|p.S5495*(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCCATCTCAGCACAGGGG	0.572000													45	166					6.31075e-24	1.00572e-23	0.139131	1	0
NLRP4	147945	broad.mit.edu	37	19	56369376	56369376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:56369376C>A	ENST00000301295.6	+	3	1039	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	NLRP4_ENST00000346986.5_Missense_Mutation_p.S206Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.S131Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	206	NACHT.						ATP binding	p.S206Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTTGATTTCCAGAGAGTGG	0.532000													55	140					1.41401e-22	2.20563e-22	0.139131	1	0
MSLN	10232	broad.mit.edu	37	16	815525	815525	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:815525A>T	ENST00000566549.1	+	9	1121		c.e9-1		MSLN_ENST00000563941.1_Splice_Site|MSLN_ENST00000545450.2_Splice_Site|MSLN_ENST00000382862.3_Splice_Site			Q13421	MSLN_HUMAN	mesothelin						cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		p.?(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGTCTGCACAGCCCCCCGTC	0.701000													16	37					0	0	0.160694	0	0
WDR27	253769	broad.mit.edu	37	6	170088913	170088913	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:170088913C>A	ENST00000333572.6	-	2	708	c.189_splice	c.e2+1	p.Q63_splice	WDR27_ENST00000448612.1_Splice_Site_p.Q63_splice|WDR27_ENST00000420344.2_Splice_Site_p.Q63_splice|WDR27_ENST00000423258.1_Splice_Site_p.Q63_splice			A2RRH5	WDR27_HUMAN	WD repeat domain 27	63								p.Q63H(6)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTCAATACCTGATGAGAAG	0.468000													57	149					1.47633e-17	2.12057e-17	0.139131	1	0
BIN2	51411	broad.mit.edu	37	12	51689596	51689596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:51689596C>G	ENST00000267012.4	-	9	806	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	BIN2_ENST00000452142.2_Missense_Mutation_p.V217L|BIN2_ENST00000544402.1_Missense_Mutation_p.V223L|BIN2_ENST00000604560.1_Missense_Mutation_p.V222L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	249						cytoplasm	protein binding	p.V249L(2)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTCCCTTCACCACAAAGACT	0.453000													108	214					0	0	0.139131	0	0
OR6B2	389090	broad.mit.edu	37	2	240969840	240969840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:240969840C>G	ENST00000402971.2	-	1	66	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G3R(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		ACATTCTCCCCACTCATGCCT	0.592000													15	43					0	0	0.119110	0	0
NXF1	10482	broad.mit.edu	37	11	62569274	62569274	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:62569274G>A	ENST00000531709.2	-	6	689	c.576C>T	c.(574-576)aaC>aaT	p.N192N	NXF1_ENST00000294172.2_Silent_p.N192N|NXF1_ENST00000439713.2_Silent_p.N192N|NXF1_ENST00000532297.1_Silent_p.N192N|NXF1_ENST00000531131.1_5'UTR	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	192	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.N192N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGAAGAGTTGATGATGA	0.488000													63	192					0	0	0.139131	0	0
KLK4	9622	broad.mit.edu	37	19	51412025	51412025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51412025C>A	ENST00000324041.1	-	3	284	c.285G>T	c.(283-285)caG>caT	p.Q95H	KLK4_ENST00000431178.2_Missense_Mutation_p.Q46H	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	95	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.Q95H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCACCATCTGGCTCCCTG	0.602000													38	92					6.1244e-12	7.82059e-12	0.098360	1	0
FRY	10129	broad.mit.edu	37	13	32811626	32811626	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:32811626A>T	ENST00000380250.3	+	44	6417	c.5921A>T	c.(5920-5922)gAa>gTa	p.E1974V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.E1974V(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAACTGCCGAACGGAGCCGG	0.532000													8	59					0	0	0.080935	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213592	1213592	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:1213592C>A	ENST00000304460.10	+	5	734	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	226					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T226T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTACATCACCTCCACGCTGC	0.657000													28	90					5.60225e-13	7.32415e-13	0.144211	1	0
GPR112	139378	broad.mit.edu	37	X	135429796	135429796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:135429796C>T	ENST00000394143.1	+	6	4222	c.3931C>T	c.(3931-3933)Caa>Taa	p.Q1311*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1311*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1248*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1106*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q1311*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGTCACCAAACACATTC	0.443000													37	80					0	0	0.086207	0	0
XIST	7503	broad.mit.edu	37	X	73066574	73066574	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:73066574G>T	ENST00000429829.1	-	0	6014					NR_001564.2																						ACACATATTGGGAGGCCAAGA	0.468000													15	97					2.62699e-14	3.526e-14	0.132662	1	0
KLHL1	57626	broad.mit.edu	37	13	70314575	70314575	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:70314575T>A	ENST00000377844.4	-	8	2512	c.1753A>T	c.(1753-1755)Agt>Tgt	p.S585C	KLHL1_ENST00000545028.1_Missense_Mutation_p.S392C	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	585					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S585C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTGACATACTGGCTACAAAT	0.403000													12	75					0	0	0.105934	0	0
ARSJ	79642	broad.mit.edu	37	4	114899799	114899799	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:114899799C>T	ENST00000315366.7	-	1	1058	c.192G>A	c.(190-192)gaG>gaA	p.E64E	ARSJ_ENST00000541197.1_Silent_p.E64E|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	64						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GCTCTAGTTTCTCTCCAGCTT	0.527000													5	211					0	0	0.184627	0	0
PLCB1	23236	broad.mit.edu	37	20	8770893	8770893	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:8770893G>T	ENST00000378641.3	+	31	3883	c.3408G>T	c.(3406-3408)ctG>ctT	p.L1136L	PLCB1_ENST00000378637.2_Silent_p.L1136L|PLCB1_ENST00000338037.6_Silent_p.L1136L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1136					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAGATCCTGGATGAAAAGC	0.338000													8	23					0.000274275	0.000290381	0.047766	1	0
AADACL2	344752	broad.mit.edu	37	3	151474962	151474962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:151474962G>A	ENST00000356517.3	+	5	895	c.786G>A	c.(784-786)tgG>tgA	p.W262*	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	262						extracellular region|integral to membrane	carboxylesterase activity	p.W262*(2)|p.W240*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTTCCCTGGGCAATGAGAA	0.413000													73	191					0	0	0.139131	0	0
BRE	9577	broad.mit.edu	37	2	28464261	28464261	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:28464261G>T	ENST00000344773.2	+	9	989		c.e9+1		BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000342045.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.?(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTTTGGCACGTAAGTTCTGC	0.438000													15	93					6.49762e-13	8.46723e-13	0.175082	1	0
KRT6A	3853	broad.mit.edu	37	12	52885477	52885477	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:52885477C>A	ENST00000330722.6	-	2	652	c.584G>T	c.(583-585)tGg>tTg	p.W195L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	195	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.W195L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGGGTCCACTTTGTTTC	0.522000													56	95					3.28156e-27	5.43775e-27	0.139131	1	0
PXDN	7837	broad.mit.edu	37	2	1653089	1653089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:1653089C>A	ENST00000252804.4	-	17	2513	c.2463G>T	c.(2461-2463)tgG>tgT	p.W821C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	821					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.W821C(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAACTGGCCCCACTGCATCA	0.662000													4	40					0.000602214	0.000633138	0.184627	1	0
PLCD4	84812	broad.mit.edu	37	2	219492945	219492945	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:219492945A>T	ENST00000450993.2	+	7	1305	c.966A>T	c.(964-966)ggA>ggT	p.G322G	PLCD4_ENST00000417849.1_Silent_p.G322G|PLCD4_ENST00000432688.1_Silent_p.G322G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G322G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGTCGAGGGATATATACGGT	0.512000													19	222					0	0	0.175082	0	0
COL3A1	1281	broad.mit.edu	37	2	189872628	189872628	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:189872628G>A	ENST00000304636.3	+	46	3551	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1127	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.Q1127Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGTCAGCAGGGTGCAATCG	0.463000													45	116					0	0	0.139131	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:114107681C>T	ENST00000375418.3	-	1	158	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.K24K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGCTGTTCTCCTTGCAGACAT	0.577000													13	73					0	0	0.093190	0	0
PCDH10	57575	broad.mit.edu	37	4	134084177	134084177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:134084177G>T	ENST00000264360.4	+	4	3669	c.2843G>T	c.(2842-2844)gGc>gTc	p.G948V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	948					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G948V(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAGCTCTGGGCCACTCAGAT	0.483000													32	120					1.56442e-22	2.42595e-22	0.163468	1	0
OR2C3	81472	broad.mit.edu	37	1	247695358	247695358	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:247695358C>T	ENST00000366487.3	-	2	817	c.456G>A	c.(454-456)ggG>ggA	p.G152G	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGTCAGACCCCCCAGCCAGG	0.562000													18	52					0	0	0.175082	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036699	58036699	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:58036699C>A	ENST00000556826.1	-	6	1170		c.e6-1		SLC35F4_ENST00000339762.6_Splice_Site|SLC35F4_ENST00000554729.1_Splice_Site	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.?(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAACAAGACCTGGAATGAGA	0.433000													7	29					5.4927e-09	6.50508e-09	0.047766	1	0
SPATA20	64847	broad.mit.edu	37	17	48627416	48627416	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:48627416G>C	ENST00000006658.6	+	8	1053	c.933G>C	c.(931-933)caG>caC	p.Q311H	SPATA20_ENST00000356488.4_Missense_Mutation_p.Q295H|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.Q251H	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	295					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGGCCCAGCAGATGGCCTTGC	0.617000													11	632					0	0	0.069234	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866251	131866251	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:131866251G>A	ENST00000359827.3	-	18	4343	c.3381C>T	c.(3379-3381)tcC>tcT	p.S1127S	PLXNA4_ENST00000321063.4_Silent_p.S1127S			Q9HCM2	PLXA4_HUMAN	plexin A4	1127	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.S1127S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGAGCAGGGACTGGACGT	0.602000													40	231					0	0	0.092188	0	0
BLK	640	broad.mit.edu	37	8	11406563	11406563	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:11406563C>A	ENST00000259089.4	+	5	892	c.300C>A	c.(298-300)ctC>ctA	p.L100L	BLK_ENST00000529894.1_Silent_p.L29L	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	100	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L100L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCAGGTCACTCGTCACAGGAA	0.592000													4	16					0.150653	0.151658	0.150653	1	0
OR13C5	138799	broad.mit.edu	37	9	107361248	107361248	+	Missense_Mutation	SNP	C	C	A	rs141723124	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:107361248C>A	ENST00000374779.2	-	1	540	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149C(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCCTATGATCCAGGACCCAG	0.458000													27	231					9.90768e-06	1.09102e-05	0.099896	1	0
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:166981296A>T	ENST00000061240.2	+	15	2610	c.1963A>T	c.(1963-1965)Aga>Tga	p.R655*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.R678*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	655	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R655*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCAGTACAGAATTTCTGT	0.418000													52	124					0	0	0.139131	0	0
ZNF831	128611	broad.mit.edu	37	20	57829002	57829002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:57829002C>G	ENST00000371030.2	+	5	4238	c.4238C>G	c.(4237-4239)aCt>aGt	p.T1413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1413						intracellular	nucleic acid binding|zinc ion binding	p.T1413S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCACAGCACTGCTGCCACA	0.498000													13	135					0	0	0.105934	0	0
SYT6	148281	broad.mit.edu	37	1	114640465	114640465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:114640465C>A	ENST00000393296.1	-	6	1476	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SYT6_ENST00000369547.1_Missense_Mutation_p.V382L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	467					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.V382L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGATCCCCACACGACAGACT	0.567000													23	184					7.16444e-05	7.75506e-05	0.091800	1	0
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:92101100G>T	ENST00000377067.3	+	2	621	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	83						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q83H(3)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGCTCGCCAGGATATGCAGC	0.438000													16	115					3.52763e-06	3.92031e-06	0.160694	1	0
SORCS3	22986	broad.mit.edu	37	10	106802840	106802840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:106802840C>G	ENST00000369701.3	+	5	1209	c.982C>G	c.(982-984)Cgg>Ggg	p.R328G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	328						integral to membrane	neuropeptide receptor activity	p.R328G(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTTGGAAGACGGTGGCAACT	0.438000													64	163					0	0	0.139131	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136384	220136384	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:220136384T>C	ENST00000490341.1	+	0	854					NR_003063.1																						TGGCAGAGATTACCAATGCCT	0.552000													7	106					0	0	0.069234	0	0
BAGE2	85319	broad.mit.edu	37	21	11049486	11049486	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:11049486C>A	ENST00000470054.1	-	0	622									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATTGCCAACCTGCACG	0.448000													17	317					7.41877e-09	8.76976e-09	0.062417	1	0
PI4KB	5298	broad.mit.edu	37	1	151288658	151288658	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:151288658C>A	ENST00000368875.2	-	3	916	c.336G>T	c.(334-336)gaG>gaT	p.E112D	PI4KB_ENST00000368873.1_Missense_Mutation_p.E100D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E100D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E112D|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.E100D	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	100					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.E112D(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCATCTTCCTCCTCCCTGA	0.577000													46	175					1.03325e-14	1.39615e-14	0.124865	1	0
BAG6	7917	broad.mit.edu	37	6	31614237	31614237	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:31614237G>C	ENST00000404765.2	-	8	1141	c.852C>G	c.(850-852)ctC>ctG	p.L284L	BAG6_ENST00000362049.6_Silent_p.L284L|BAG6_ENST00000375976.4_Silent_p.L284L|BAG6_ENST00000211379.5_Silent_p.L284L|BAG6_ENST00000375964.6_Silent_p.L290L|BAG6_ENST00000439687.2_Silent_p.L284L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	290	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.L284L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGAAGGGCTGGAGGCGACTCT	0.582000													9	127					0	0	0.047766	0	0
LCE3D	84648	broad.mit.edu	37	1	152552354	152552354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152552354T>A	ENST00000368787.3	-	2	115	c.59A>T	c.(58-60)aAg>aTg	p.K20M		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	20					keratinization			p.K20M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGGGACACTTGGGTGAGGG	0.602000													72	221					0	0	0.139131	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594437	11594437	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:11594437G>T	ENST00000294484.6	+	18	3513		c.e18-1		PTCHD2_ENST00000304391.6_Splice_Site|PTCHD2_ENST00000389575.3_Splice_Site	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2						cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.?(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTCCCCACAGACCACGTACA	0.627000													26	87					7.68411e-24	1.21976e-23	0.134883	1	0
GZMH	2999	broad.mit.edu	37	14	25075914	25075914	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:25075914G>T	ENST00000216338.4	-	5	680	c.636C>A	c.(634-636)gcC>gcA	p.A212A	GZMH_ENST00000557220.2_Silent_p.A81A|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Silent_p.A126A	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	212	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.A212A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GAATACCTTGGGCTACGTCCT	0.532000													24	232					1.66031e-10	2.04241e-10	0.091800	1	0
BRWD3	254065	broad.mit.edu	37	X	79936970	79936970	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:79936970T>C	ENST00000373275.4	-	40	4740	c.4524A>G	c.(4522-4524)ctA>ctG	p.L1508L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1508								p.L1508L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAGTAGATATAGTGAAAGCC	0.378000													42	54					0	0	0.098360	0	0
ANO6	196527	broad.mit.edu	37	12	45810526	45810526	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:45810526C>T	ENST00000320560.8	+	17	2258	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.L686L|ANO6_ENST00000425752.2_Silent_p.L686L|ANO6_ENST00000423947.3_Silent_p.L707L|ANO6_ENST00000441606.2_Silent_p.L668L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	686					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.L686L(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCTTTTCCACTGGCCCCTCT	0.473000													48	76					0	0	0.139131	0	0
F13A1	2162	broad.mit.edu	37	6	6318869	6318869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:6318869C>T	ENST00000264870.3	-	2	294	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	10					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G10E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTTCTGCCTCCAAAGGCGGT	0.478000													91	309					0	0	0.139131	0	0
CIB4	130106	broad.mit.edu	37	2	26818175	26818175	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:26818175A>T	ENST00000288861.4	-	4	250	c.197T>A	c.(196-198)tTc>tAc	p.F66Y	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	66	EF-hand 1.						calcium ion binding	p.F66Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGTCTCTGAAAGGGTTGAC	0.562000													16	75					0	0	0.160694	0	0
OR2L3	391192	broad.mit.edu	37	1	248224532	248224532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248224532G>A	ENST00000359959.3	+	1	549	c.549G>A	c.(547-549)atG>atA	p.M183I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M183I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCCAGCAATGGTGACTCTGG	0.463000													64	294					0	0	0.139131	0	0
RBM44	375316	broad.mit.edu	37	2	238726701	238726701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:238726701C>T	ENST00000316997.4	+	3	1274	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S381F	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	380							nucleotide binding|RNA binding	p.S381F(4)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTCAAACTTCCTGGACCTCT	0.378000													27	79					0	0	0.116897	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979967	145979967	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:145979967A>C	ENST00000394413.3	-	7	1417	c.847T>G	c.(847-849)Tcg>Gcg	p.S283A	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S349A|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S283A|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S286A|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S283A|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S283A|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S341A|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S289A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.S283A(1)|p.S341A(1)|p.S286A(1)|p.S272A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGAAATCGAAGAGATAATT	0.423000													4	143					0	0	0.150653	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817990	22817990	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:22817990A>G	ENST00000404138.1	+	4	1306	c.795A>G	c.(793-795)ctA>ctG	p.L265L	ZBTB40_ENST00000374651.4_Silent_p.L265L|ZBTB40_ENST00000375647.4_Silent_p.L265L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L265L(2)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TAAAAAAACTAGAAATGTGTT	0.378000													49	148					0	0	0.139131	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995285	140995285	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:140995285C>A	ENST00000285879.4	+	4	2381	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	699							protein binding	p.L699I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTCCTCTTGAGGGAGA	0.562000										HNSCC(15;0.026)			79	75					4.49761e-31	7.81744e-31	0.139131	1	0
ESR1	2099	broad.mit.edu	37	6	152265375	152265375	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:152265375C>A	ENST00000440973.1	+	6	1198	c.828C>A	c.(826-828)ggC>ggA	p.G276G	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000206249.3_Silent_p.G276G|ESR1_ENST00000338799.5_Silent_p.G276G|ESR1_ENST00000544394.1_Silent_p.G103G|ESR1_ENST00000443427.1_Silent_p.G276G	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	276	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.G276G(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATGGGGAGGGCAGGGGTGAAG	0.507000													56	135					4.88506e-25	7.88923e-25	0.139131	1	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:98188534C>G	ENST00000332650.5	+	1	211	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433000													105	336					0	0	0.139131	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452						integral to membrane		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358000													18	133					7.07596e-05	7.66615e-05	0.175082	1	0
LOXL4	84171	broad.mit.edu	37	10	100017495	100017495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:100017495G>T	ENST00000260702.3	-	8	1322	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	391	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.P391H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TTCCAGGGCAGGGCAGTCGCT	0.582000													92	174					4.21487e-37	7.70282e-37	0.139131	1	0
EPHA10	284656	broad.mit.edu	37	1	38201007	38201007	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:38201007G>A	ENST00000373048.4	-	6	1412	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S	EPHA10_ENST00000540011.1_5'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.S471S|EPHA10_ENST00000330210.7_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	471	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.S472S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCACGACAGGGACACGCTCT	0.622000													3	10					0	0	0.115264	0	0
UNC13C	440279	broad.mit.edu	37	15	54307745	54307745	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:54307745T>A	ENST00000545554.1	+	1	2645	c.2645T>A	c.(2644-2646)aTg>aAg	p.M882K	UNC13C_ENST00000260323.11_Missense_Mutation_p.M882K|UNC13C_ENST00000537900.1_Missense_Mutation_p.M882K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	882					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.M882K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTGAAGTCATGGAACAAGTC	0.378000													47	100					0	0	0.117977	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204252	151204252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:151204252G>T	ENST00000409426.1	+	4	752	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V102L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V103L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.V115L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	115	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.V115L(2)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATTTCTACGTGGTTGAGAG	0.488000													63	170					3.94839e-29	6.71783e-29	0.139131	1	0
REV1	51455	broad.mit.edu	37	2	100058928	100058928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:100058928G>C	ENST00000258428.3	-	5	582	c.354C>G	c.(352-354)atC>atG	p.I118M	REV1_ENST00000393445.3_Missense_Mutation_p.I118M|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	118	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I118M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCAGCTTTGATGCTGAAAC	0.413000								Direct reversal of damage					8	166					0	0	0.069234	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413146	121413146	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:121413146C>T	ENST00000393667.3	-	13	6334	c.6224G>A	c.(6223-6225)cGc>cAc	p.R2075H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2070H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2070					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCCTTTTTGCGGTGTTCAAC	0.403000													6	271					0	0	0.029380	0	0
TRBV27	28560	broad.mit.edu	37	7	142423595	142423595	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142423595A>G	ENST00000506718.1	+	0	603				TRBV27_ENST00000390399.3_RNA																							GAAGGGTACAAAGTCTCTCGA	0.502000													6	116					0	0	0.029380	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237364	84237364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:84237364G>A	ENST00000324537.5	+	7	787	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	SH3GL3_ENST00000535412.1_Missense_Mutation_p.G91S|SH3GL3_ENST00000427482.2_Missense_Mutation_p.G91S|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G99S			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	91	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G99S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCAGACGGAAGGCTTGCTGGG	0.517000													7	115					0	0	0.047766	0	0
ZNF322	79692	broad.mit.edu	37	6	26637670	26637670	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:26637670G>T	ENST00000415922.2	-	4	1757	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF322_ENST00000471278.1_Missense_Mutation_p.T371K	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.T371K(1)									AATGTGTACTGTCTGATGTTG	0.438000													15	594					4.14922e-12	5.30397e-12	0.146539	1	0
ELF2	1998	broad.mit.edu	37	4	139988852	139988852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:139988852G>C	ENST00000394235.2	-	7	1065	c.563C>G	c.(562-564)cCa>cGa	p.P188R	ELF2_ENST00000379550.1_Missense_Mutation_p.P200R|ELF2_ENST00000510408.1_Missense_Mutation_p.P128R|ELF2_ENST00000265495.4_Missense_Mutation_p.P188R|ELF2_ENST00000358635.3_Missense_Mutation_p.P140R|ELF2_ENST00000379549.2_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	200					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P188R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TCCTTCTCTTGGTTTCTTCTT	0.358000													31	207					0	0	0.173368	0	0
GRM3	2913	broad.mit.edu	37	7	86415735	86415735	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:86415735C>T	ENST00000361669.2	+	3	1726	c.627C>T	c.(625-627)aaC>aaT	p.N209N	GRM3_ENST00000439827.1_Silent_p.N209N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.N81N|GRM3_ENST00000394720.2_Silent_p.N207N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	209					synaptic transmission	integral to plasma membrane		p.N209N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCTTCTTCAACTGGACCTACG	0.572000													22	143					0	0	0.069288	0	0
WARS2	10352	broad.mit.edu	37	1	119619185	119619185	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:119619185T>C	ENST00000369426.5	-	2	139	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	WARS2_ENST00000235521.4_Missense_Mutation_p.I46V|WARS2_ENST00000537870.1_5'UTR			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	46					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.I46V(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AGGTGGAGGATTCCTGTAGGT	0.448000													63	311					0	0	0.139131	0	0
BNIP2	663	broad.mit.edu	37	15	59961504	59961504	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:59961504T>A	ENST00000267859.3	-	8	1221	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	BNIP2_ENST00000415213.2_Silent_p.T317T|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000607373.1_Silent_p.T255T			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	255					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	p.T255T(2)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAGCCAGAAGTGTTCTGATAA	0.264000													28	72					0	0	0.203993	0	0
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:21424254C>A	ENST00000304625.2	+	2	414	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418000													20	149					8.04996e-18	1.1632e-17	0.062417	1	0
LIPK	643414	broad.mit.edu	37	10	90486557	90486557	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:90486557G>C	ENST00000404190.1	+	2	111	c.111G>C	c.(109-111)caG>caC	p.Q37H		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	37					lipid catabolic process	extracellular region	hydrolase activity	p.Q37H(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTAGAGCCAGATTATTTCTT	0.313000													11	15					0	0	0.093190	0	0
C9orf64	84267	broad.mit.edu	37	9	86570403	86570403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:86570403C>A	ENST00000376344.3	-	2	706	c.490G>T	c.(490-492)Gga>Tga	p.G164*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.G23*|C9orf64_ENST00000376340.2_Nonsense_Mutation_p.G23*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	164								p.G164*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAAGAGCCTCCAAACTTCTCC	0.443000													48	136					1.51926e-22	2.36198e-22	0.139131	1	0
RGS22	26166	broad.mit.edu	37	8	101051164	101051164	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:101051164C>T	ENST00000360863.6	-	14	2355	c.2161G>A	c.(2161-2163)Gcg>Acg	p.A721T	RGS22_ENST00000523287.1_Missense_Mutation_p.A540T|RGS22_ENST00000523437.1_Missense_Mutation_p.A709T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	721					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CGTACTTGCGCTTGCTTGCAT	0.403000													8	115					0	0	0.058154	0	0
SCN4A	6329	broad.mit.edu	37	17	62018710	62018710	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:62018710C>G	ENST00000578147.1	-	24	5008	c.4932G>C	c.(4930-4932)gtG>gtC	p.V1644V	SCN4A_ENST00000435607.1_Silent_p.V1644V			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1644V(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCAGGGTGTCCACGAAGTCTG	0.567000													25	104					0	0	0.108266	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145419	44145419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:44145419C>G	ENST00000260665.7	-	28	3072	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1005					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.Q1005H(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGGAACTTCCTGGTTACCCT	0.338000													40	117					0	0	0.117977	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412161	43412161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:43412161G>T	ENST00000310826.5	-	3	2227	c.2044C>A	c.(2044-2046)Ctc>Atc	p.L682I	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L682I|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L682I	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.L682I(2)									AATTGAGAGAGAAAGCGGTAC	0.433000													32	289					5.60225e-13	7.32415e-13	0.144211	1	0
UMOD	7369	broad.mit.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:20360484C>A	ENST00000396134.2	-	4	361	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	UMOD_ENST00000396138.4_Missense_Mutation_p.V96F|UMOD_ENST00000396142.2_Missense_Mutation_p.V47F|UMOD_ENST00000570689.1_Missense_Mutation_p.V47F|UMOD_ENST00000424589.1_Missense_Mutation_p.V80F|UMOD_ENST00000302509.4_Missense_Mutation_p.V47F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	47	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612000													12	58					2.23348e-06	2.49127e-06	0.146539	1	0
KIAA2018	205717	broad.mit.edu	37	3	113375768	113375768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:113375768G>T	ENST00000316407.4	-	7	5171	c.4761C>A	c.(4759-4761)aaC>aaA	p.N1587K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1587K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1587	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.N1587K(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTTATGATGGTTCCGACTAG	0.478000													31	81					7.26314e-15	9.83618e-15	0.125774	1	0
DUSP22	56940	broad.mit.edu	37	6	348110	348110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:348110G>T	ENST00000419235.2	+	6	349	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.G91W|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	91	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G91W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGCCTGGCCGGGGTCTCCAG	0.602000													18	286					2.89027e-11	3.61433e-11	0.069288	1	0
PKLR	5313	broad.mit.edu	37	1	155264362	155264362	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:155264362G>A	ENST00000392414.3	-	6	896	c.783C>T	c.(781-783)agC>agT	p.S261S	PKLR_ENST00000342741.4_Silent_p.S292S	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	292					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.S292S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGCCACGTCGCTGGCTTTCC	0.612000													6	146					0	0	0.047766	0	0
TXK	7294	broad.mit.edu	37	4	48114498	48114498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:48114498C>T	ENST00000264316.4	-	4	291	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R69Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAGTGGCTTTCGTTTTGACGG	0.433000													17	234					0	0	0.189662	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718254	103718254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:103718254C>A	ENST00000245312.3	-	1	942	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	116					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.A116S(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCAATAGGCCAAGATATTG	0.507000													14	138					6.31663e-08	7.30889e-08	0.132662	1	0
DUOX1	53905	broad.mit.edu	37	15	45444142	45444142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:45444142C>A	ENST00000321429.4	+	25	3492	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1029K|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q675K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1029	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.Q1029K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGTCTCCACCAGACGGTGCA	0.587000													31	81					4.15321e-07	4.70645e-07	0.144211	1	0
TBX3	6926	broad.mit.edu	37	12	115114148	115114148	+	Missense_Mutation	SNP	C	C	A	rs140580685	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:115114148C>A	ENST00000349155.2	-	5	1972	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	TBX3_ENST00000257566.3_Missense_Mutation_p.A357S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	357					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.A357S(2)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACAGTGGAGGCGGCTGGAGAA	0.522000													58	77					2.5401e-28	4.29753e-28	0.139131	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863699	64863699	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:64863699C>A	ENST00000313349.3	-	2	604	c.307G>T	c.(307-309)Gcc>Tcc	p.A103S	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	103					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.A103S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GCCGGCGGGGCCTCTCGGTAG	0.697000													6	42					8.12818e-05	8.76683e-05	0.029380	1	0
OR2J2	26707	broad.mit.edu	37	6	29141790	29141790	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:29141790T>C	ENST00000377167.2	+	1	480	c.378T>C	c.(376-378)gcT>gcC	p.A126A		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A126A(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTATGTAGCTGTGTGTAGAC	0.453000													104	480					0	0	0.139131	0	0
CDH1	999	broad.mit.edu	37	16	68849475	68849475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:68849475G>T	ENST00000261769.5	+	10	1569	c.1378G>T	c.(1378-1380)Gta>Tta	p.V460L	CDH1_ENST00000422392.2_Missense_Mutation_p.V399L|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	460	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.V460L(2)|p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACGAATGTGGTACCTTTTGA	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				32	128					9.65021e-13	1.25484e-12	0.153744	1	0
EPX	8288	broad.mit.edu	37	17	56270730	56270730	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:56270730A>T	ENST00000225371.5	+	3	280		c.e3-1			NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase						hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.?(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCTCCTGGGCAGCATCAAGCA	0.637000													67	299					0	0	0.139131	0	0
TG	7038	broad.mit.edu	37	8	134125713	134125713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:134125713C>A	ENST00000220616.4	+	44	7660	c.7620C>A	c.(7618-7620)taC>taA	p.Y2540*	TG_ENST00000377869.1_Nonsense_Mutation_p.Y2483*|TG_ENST00000542445.1_Nonsense_Mutation_p.Y910*|TG_ENST00000519543.1_Nonsense_Mutation_p.Y673*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2540					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Y2540*(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCCTTTTACCAGGCACTGC	0.488000													84	113					3.29526e-42	6.14301e-42	0.139131	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525673	176525673	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:176525673C>G	ENST00000367662.3	+	2	1379	c.215C>G	c.(214-216)cCc>cGc	p.P72R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P72R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	72					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P72R(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGTCTACCCCAGCAGGGCT	0.557000													102	404					0	0	0.139131	0	0
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:25014018G>A	ENST00000382114.4	-	7	944	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253						extracellular region		p.N253N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCACCATGCAGTTCTCCATGC	0.468000													48	238					0	0	0.139131	0	0
AUTS2	26053	broad.mit.edu	37	7	70228278	70228278	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:70228278C>A	ENST00000342771.4	+	7	1486	c.1165C>A	c.(1165-1167)Cag>Aag	p.Q389K	AUTS2_ENST00000406775.2_Missense_Mutation_p.Q389K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	389	Ser-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGCCTCTCCCAGCCATTGTC	0.602000													6	109					0.00198382	0.00205704	0.029380	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140553818C>A	ENST00000231137.3	+	1	1576	c.1402C>A	c.(1402-1404)Ctg>Atg	p.L468M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632000													35	112					1.48341e-19	2.22604e-19	0.139131	1	0
CCDC63	160762	broad.mit.edu	37	12	111336809	111336809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:111336809G>T	ENST00000308208.5	+	10	1464	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	CCDC63_ENST00000552694.1_Missense_Mutation_p.D329Y|CCDC63_ENST00000545036.1_Missense_Mutation_p.D368Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	408								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAGACCTTGGATCTATTGAA	0.507000													76	88					1.3913e-53	2.67625e-53	0.139131	1	0
NLRP4	147945	broad.mit.edu	37	19	56370026	56370026	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:56370026G>T	ENST00000301295.6	+	3	1689	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W	NLRP4_ENST00000346986.5_Missense_Mutation_p.G423W|NLRP4_ENST00000587891.1_Missense_Mutation_p.G348W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	423	NACHT.						ATP binding	p.G423W(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGAAATGGGGTTGTTGA	0.562000													51	119					1.81118e-26	2.97675e-26	0.139131	1	0
PLB1	151056	broad.mit.edu	37	2	28855858	28855858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:28855858C>A	ENST00000422425.2	+	55	4061	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	PLB1_ENST00000541605.1_Missense_Mutation_p.F315L|PLB1_ENST00000327757.5_Missense_Mutation_p.F1350L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1350	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.F1339L(2)|p.F1350L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTTTCACTTCTCAGACCGCG	0.562000													22	188					2.89027e-11	3.61433e-11	0.069288	1	0
OR2G6	391211	broad.mit.edu	37	1	248685280	248685280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248685280G>A	ENST00000343414.4	+	1	365	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCGTCTGAGTGTATTCTCT	0.552000													10	214					0	0	0.080935	0	0
ZNF713	349075	broad.mit.edu	37	7	55991322	55991322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:55991322G>T	ENST00000429591.2	+	3	236	c.198G>T	c.(196-198)gaG>gaT	p.E66D	MRPS17_ENST00000426595.1_Missense_Mutation_p.E66D|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E66D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			gtaagccaGAGGTAATCGCGC	0.453000													11	36					1.08611e-07	1.24954e-07	0.080935	1	0
DYRK4	8798	broad.mit.edu	37	12	4722693	4722693	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:4722693A>G	ENST00000540757.2	+	13	1497	c.1337A>G	c.(1336-1338)aAa>aGa	p.K446R	DYRK4_ENST00000545342.1_Missense_Mutation_p.K83R|DYRK4_ENST00000010132.5_Missense_Mutation_p.K446R|DYRK4_ENST00000543431.1_Missense_Mutation_p.K445R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	446						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K847R(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GAGATCACCAAAGAGACTACA	0.438000													18	64					0	0	0.189662	0	0
RP1L1	94137	broad.mit.edu	37	8	10469886	10469886	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:10469886G>T	ENST00000382483.3	-	4	1945	c.1722C>A	c.(1720-1722)ccC>ccA	p.P574P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	574					intracellular signal transduction			p.P574P(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGAGAAGCGGGGTCGCCTC	0.652000													30	192					2.65835e-16	3.72971e-16	0.125774	1	0
TOPORS	10210	broad.mit.edu	37	9	32544246	32544246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:32544246C>G	ENST00000360538.2	-	3	393	c.277G>C	c.(277-279)Gta>Cta	p.V93L	TOPORS_ENST00000379858.1_Missense_Mutation_p.V28L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.V93L(2)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAGCTGGTACTGTCTGTTGC	0.373000													15	157					0	0	0.160694	0	0
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:27196029C>G	ENST00000242159.3	-	1	269	c.136G>C	c.(136-138)Gcc>Ccc	p.A46P		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622000													20	103					0	0	0.083992	0	0
SLC10A7	84068	broad.mit.edu	37	4	147425062	147425062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:147425062C>A	ENST00000432059.2	-	4	581	c.335G>T	c.(334-336)gGt>gTt	p.G112V	SLC10A7_ENST00000394059.4_Missense_Mutation_p.G112V|SLC10A7_ENST00000264986.3_Missense_Mutation_p.R66S|SLC10A7_ENST00000511374.1_Missense_Mutation_p.R66S|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.G112V|SLC10A7_ENST00000394062.3_Missense_Mutation_p.G112V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.G112V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	112						integral to membrane	bile acid:sodium symporter activity	p.G112V(4)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGGCATGCAACCTACTGTCTG	0.373000													24	72					3.6726e-16	5.13484e-16	0.091800	1	0
SLC5A11	115584	broad.mit.edu	37	16	24895432	24895432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:24895432C>T	ENST00000347898.3	+	8	1266	c.644C>T	c.(643-645)gCg>gTg	p.A215V	SLC5A11_ENST00000569071.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A180V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A180V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A151V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	215					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.A215V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTATAGGAGCGCTCACCTTG	0.592000													69	346					0	0	0.139131	0	0
DAPK3	1613	broad.mit.edu	37	19	3960090	3960090	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:3960090G>C	ENST00000545797.2	-	8	1038	c.795C>G	c.(793-795)acC>acG	p.T265T	DAPK3_ENST00000301264.3_Silent_p.T265T			O43293	DAPK3_HUMAN	death-associated protein kinase 3	265	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGGCAATGGTCATTCTCC	0.637000													14	430					0	0	0.132662	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405431	105405431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:105405431G>T	ENST00000333244.5	-	7	16476	c.16357C>A	c.(16357-16359)Ctg>Atg	p.L5453M	AHNAK2_ENST00000557457.1_Missense_Mutation_p.L451M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5453						nucleus		p.L423M(1)|p.L5453M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAAAGGCAGGTTAAGGTCC	0.532000													4	14					0.000602214	0.000633138	0.184627	1	0
OGN	4969	broad.mit.edu	37	9	95165620	95165620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:95165620G>T	ENST00000262551.4	-	2	490	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.Q24K	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	24						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAGTCCTGCTGGGTTGGTGGT	0.383000													21	65					1.9806e-07	2.26783e-07	0.069288	1	0
UGDH	7358	broad.mit.edu	37	4	39515801	39515801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:39515801C>A	ENST00000316423.6	-	3	508	c.166G>T	c.(166-168)Gga>Tga	p.G56*	UGDH_ENST00000501493.2_Nonsense_Mutation_p.G56*|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Nonsense_Mutation_p.G56*|UGDH_ENST00000507089.1_De_novo_Start_OutOfFrame	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	56					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.G56*(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TCTTTTAGTCCTGGCTAAAAA	0.313000													29	171					7.01153e-11	8.68711e-11	0.125774	1	0
CNTN6	27255	broad.mit.edu	37	3	1415642	1415642	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:1415642A>C	ENST00000446702.2	+	16	2607	c.1980A>C	c.(1978-1980)gcA>gcC	p.A660A	CNTN6_ENST00000539053.1_Silent_p.A588A|CNTN6_ENST00000350110.2_Silent_p.A660A			Q9UQ52	CNTN6_HUMAN	contactin 6	660	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.A660A(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATACAATGCAACAGTGGTTG	0.388000													25	81					0	0	0.116897	0	0
C4orf22	255119	broad.mit.edu	37	4	81866088	81866088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:81866088C>A	ENST00000358105.3	+	5	650	c.601C>A	c.(601-603)Cca>Aca	p.P201T	C4orf22_ENST00000508675.1_Missense_Mutation_p.P218T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	201								p.P201T(2)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TAATGTGGACCCAAAGGTAAT	0.323000													26	127					6.00712e-18	8.73238e-18	0.163468	1	0
SMARCD3	6604	broad.mit.edu	37	7	150939644	150939644	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:150939644C>A	ENST00000392811.2	-	6	937	c.463G>T	c.(463-465)Gcg>Tcg	p.A155S	SMARCD3_ENST00000356800.2_Missense_Mutation_p.A155S|SMARCD3_ENST00000262188.8_Missense_Mutation_p.A168S|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	p.A155S(2)|p.A168S(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGGCTTCGCAGGGTTAAAA	0.577000													110	209					5.67207e-43	1.06066e-42	0.139131	1	0
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:10822872G>C	ENST00000250237.5	+	6	692	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617000													56	125					0	0	0.139131	0	0
F8	2157	broad.mit.edu	37	X	154157069	154157069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:154157069G>A	ENST00000360256.4	-	14	5196	c.4996C>T	c.(4996-4998)Caa>Taa	p.Q1666*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1666	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q1666*(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTTCCCGTTGATGGCGTTTC	0.408000													11	121					0	0	0.069234	0	0
RBM47	54502	broad.mit.edu	37	4	40440430	40440430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:40440430T>A	ENST00000319592.4	-	4	1190	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.M161L|RBM47_ENST00000514014.1_Missense_Mutation_p.M123L|RBM47_ENST00000295971.7_Missense_Mutation_p.M161L|RBM47_ENST00000381793.2_Missense_Mutation_p.M161L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	161	RRM 2.					nucleus	nucleotide binding|RNA binding	p.M161L(6)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTTCTTCATCTTGGGGATC	0.627000													34	82					0	0	0.203993	0	0
OR52K1	390036	broad.mit.edu	37	11	4510989	4510989	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:4510989C>G	ENST00000307632.3	+	1	881	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTTTCCCACCCATGGTCAA	0.463000													66	235					0	0	0.139131	0	0
HDHD1	8226	broad.mit.edu	37	X	6995465	6995465	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:6995465C>A	ENST00000381077.5	-	3	382	c.306G>T	c.(304-306)ctG>ctT	p.L102L	HDHD1_ENST00000424830.2_Silent_p.L125L|HDHD1_ENST00000540122.1_Silent_p.L102L|HDHD1_ENST00000412827.2_Silent_p.L59L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	102					nucleotide metabolic process		metal ion binding|phosphatase activity	p.L88L(2)		breast(2)|large_intestine(1)|lung(3)	6						CATGTTTCCGCAGGTGGATGA	0.592000													14	19					7.93312e-07	8.93123e-07	0.119110	1	0
LRIT2	340745	broad.mit.edu	37	10	85982089	85982089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:85982089C>A	ENST00000372113.4	-	3	1245	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.G424*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTATTGATTCCGGGGCCAATG	0.557000													101	142					2.18974e-44	4.1267e-44	0.139131	1	0
GTF3C1	2975	broad.mit.edu	37	16	27540011	27540011	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:27540011T>A	ENST00000356183.4	-	6	896	c.881A>T	c.(880-882)tAc>tTc	p.Y294F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y294F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	294						transcription factor TFIIIC complex	DNA binding|protein binding	p.Y294F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATATACTGGTACAGACGCTT	0.453000													17	343					0	0	0.189662	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811918	56811918	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:56811918C>A	ENST00000229201.4	-	27	3605	c.3451_splice	c.e27+1	p.E1151_splice	TIMELESS_ENST00000554616.1_Splice_Site_p.E649_splice|TIMELESS_ENST00000553532.1_Splice_Site_p.E1152_splice	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1152					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.E1152*(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCACTATTACCCTCTGGGGAT	0.532000													282	352					2.4986e-114	4.94804e-114	0.139131	1	0
C9orf72	203228	broad.mit.edu	37	9	27566700	27566700	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:27566700C>T	ENST00000380003.3	-	2	482	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	C9orf72_ENST00000379997.3_Missense_Mutation_p.R140Q|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	140										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TCTTCCTTTCCGGATTATATG	0.338000													4	131					0	0	0.150653	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769244	25769244	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:25769244C>A	ENST00000377905.4	+	3	242	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC17A4_ENST00000439485.2_Silent_p.L41L|SLC17A4_ENST00000397076.2_5'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	41					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.L41L(2)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCCCTCATCTTGCAGC	0.468000													28	104					3.73988e-18	5.44967e-18	0.116897	1	0
PRRC2C	23215	broad.mit.edu	37	1	171482234	171482234	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:171482234C>G	ENST00000367742.3	+	3	455	c.213C>G	c.(211-213)ggC>ggG	p.G71G	PRRC2C_ENST00000338920.4_Silent_p.G69G|PRRC2C_ENST00000392078.3_Silent_p.G71G|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Silent_p.G69G			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	69							protein C-terminus binding	p.G71G(2)									AAAACAAAGGCAATGATCCTA	0.423000													4	121					0	0	0.150653	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54872616	54872616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:54872616G>T	ENST00000474759.1	+	16	1540	c.1492G>T	c.(1492-1494)Gga>Tga	p.G498*	CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.G404*|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.G498*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.G498*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	498	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CATTCTTCTGGGAGTGGTTGG	0.383000													14	213					1.02788e-11	1.30566e-11	0.160694	1	0
BRINP3	339479	broad.mit.edu	37	1	190067423	190067423	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:190067423C>G	ENST00000367462.3	-	8	2257	c.2026G>C	c.(2026-2028)Gac>Cac	p.D676H	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.D574H	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		676						extracellular region		p.D676H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTTCAGGGTCAAAGTGCATG	0.458000													61	227					0	0	0.139131	0	0
OR6K2	81448	broad.mit.edu	37	1	158670253	158670253	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:158670253T>A	ENST00000359610.2	-	1	233	c.190A>T	c.(190-192)Agt>Tgt	p.S64C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAAAGAGCACTGATAAAAGTA	0.438000													44	116					0	0	0.104719	0	0
PTPN5	84867	broad.mit.edu	37	11	18754824	18754824	+	Silent	SNP	C	C	A	rs116891792	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:18754824C>A	ENST00000396170.1	-	11	2344	c.1080G>T	c.(1078-1080)acG>acT	p.T360T	PTPN5_ENST00000358540.2_Silent_p.T392T|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Silent_p.T392T|PTPN5_ENST00000396167.2_Silent_p.T360T|PTPN5_ENST00000477854.1_Silent_p.T196T|PTPN5_ENST00000396168.1_Silent_p.T368T	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	392	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.T392T(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAATGATGGGCGTGTGCTCCT	0.577000													22	90					1.55469e-16	2.19145e-16	0.083992	1	0
FRMPD2	143162	broad.mit.edu	37	10	49450216	49450216	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:49450216A>T	ENST00000374201.3	-	5	857	c.555T>A	c.(553-555)ggT>ggA	p.G185G	FRMPD2_ENST00000305531.3_Silent_p.G161G|FRMPD2_ENST00000407470.4_Silent_p.G154G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	185	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G185G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAATGGTACCCAGAACCA	0.448000													12	233					0	0	0.105934	0	0
RNH1	6050	broad.mit.edu	37	11	494979	494979	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:494979C>G	ENST00000534797.1	-	8	2609	c.1202G>C	c.(1201-1203)cGt>cCt	p.R401P	RNH1_ENST00000438658.2_Missense_Mutation_p.R401P|RNH1_ENST00000397614.1_Missense_Mutation_p.R401P|RNH1_ENST00000397615.2_Missense_Mutation_p.R401P|RNH1_ENST00000397604.3_Missense_Mutation_p.R401P|RNH1_ENST00000356187.5_Missense_Mutation_p.R401P|RNH1_ENST00000354420.2_Missense_Mutation_p.R401P|RNH1_ENST00000533410.1_Missense_Mutation_p.R401P			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	401					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	p.R401P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCAGCTCACGCAGGCTGTG	0.672000													3	11					0	0	0.115264	0	0
C1orf116	79098	broad.mit.edu	37	1	207195442	207195442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:207195442G>T	ENST00000359470.5	-	4	1916	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	C1orf116_ENST00000461135.2_Missense_Mutation_p.S310Y	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	556						cytoplasm|plasma membrane	receptor activity	p.S556Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CAGGCGCTTGGAGCTCTGCTC	0.597000													7	97					1.26484e-09	1.52488e-09	0.038147	1	0
MAP2K3	5606	broad.mit.edu	37	17	21201787	21201787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:21201787C>A	ENST00000342679.4	+	2	361	c.112C>A	c.(112-114)Ccc>Acc	p.P38T	MAP2K3_ENST00000361818.5_Missense_Mutation_p.P9T|MAP2K3_ENST00000316920.6_Missense_Mutation_p.P9T	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	38					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P42T(2)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGCACCCAACCCCACGTGAGT	0.582000													31	268					1.7881e-09	2.15142e-09	0.134883	1	0
OR9G4	283189	broad.mit.edu	37	11	56510307	56510307	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:56510307T>C	ENST00000302957.3	-	1	980	c.981A>G	c.(979-981)acA>acG	p.T327T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T327T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACCTTCATGTTTGTGGTT	0.363000													24	191					0	0	0.116897	0	0
NID1	4811	broad.mit.edu	37	1	236201439	236201439	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:236201439C>A	ENST00000264187.6	-	5	1332	c.1250G>T	c.(1249-1251)gGc>gTc	p.G417V	NID1_ENST00000366595.3_Missense_Mutation_p.G417V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	417	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G417V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCCCGTATAGCCAGCGACACA	0.542000													57	175					6.176e-18	8.96707e-18	0.139131	1	0
FAM83C	128876	broad.mit.edu	37	20	33876672	33876672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:33876672G>T	ENST00000374408.3	-	2	699	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	201								p.Y201*(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGAGCAGGTACACAGGGA	0.602000													58	120					1.20869e-33	2.16954e-33	0.139131	1	0
HP1BP3	50809	broad.mit.edu	37	1	21074086	21074086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:21074086C>A	ENST00000375003.2	-	7	2248	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402W			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AACCCTTTCCCAGAGATCTGT	0.368000													11	119					0.000219431	0.000233751	0.119110	1	0
TRAM1	23471	broad.mit.edu	37	8	71512306	71512306	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:71512306T>A	ENST00000521425.1	-	0	913				TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.K45N|TRAM1_ENST00000536748.1_Missense_Mutation_p.K14N			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.K45N(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGATAGAAGCTTTTGCCGTTA	0.368000													36	65					0	0	0.086207	0	0
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592000										HNSCC(7;0.00092)			99	171					8.84886e-50	1.68603e-49	0.139131	1	0
ZNF268	10795	broad.mit.edu	37	12	133779409	133779409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:133779409G>T	ENST00000536435.2	+	6	1467	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.Q218H|ZNF268_ENST00000228289.5_Missense_Mutation_p.Q379H|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	379						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTCACACCAGAAAACTCATT	0.388000													19	23					2.35188e-11	2.96563e-11	0.175082	1	0
HEPH	9843	broad.mit.edu	37	X	65417580	65417580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:65417580G>T	ENST00000519389.1	+	10	1898	c.1719G>T	c.(1717-1719)tgG>tgT	p.W573C	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.W522C|HEPH_ENST00000441993.2_Missense_Mutation_p.W522C|HEPH_ENST00000343002.2_Missense_Mutation_p.W519C|HEPH_ENST00000336279.5_Missense_Mutation_p.W252C			Q9BQS7	HEPH_HUMAN	hephaestin	519	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.W519C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATACCGCTGGACAGTCCCCC	0.488000													24	45					2.50493e-22	3.87943e-22	0.099896	1	0
C10orf12	26148	broad.mit.edu	37	10	98743749	98743749	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:98743749T>A	ENST00000286067.2	+	1	2709	c.2602T>A	c.(2602-2604)Ttt>Att	p.F868I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	868								p.F868I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATGACAAACTTTAAATTATC	0.398000													7	115					0	0	0.029380	0	0
DICER1	23405	broad.mit.edu	37	14	95573945	95573945	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:95573945C>T	ENST00000526495.1	-	19	3095	c.2804_splice	c.e19+1	p.R935_splice	DICER1_ENST00000343455.3_Splice_Site_p.R935_splice|DICER1_ENST00000393063.1_Splice_Site_p.R935_splice|DICER1_ENST00000527414.1_Splice_Site_p.R935_splice|DICER1_ENST00000541352.1_Splice_Site_p.R935_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	935	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R935K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATACCTACCTTGGAATGAT	0.418000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				11	174					0	0	0.093190	0	0
CD6	923	broad.mit.edu	37	11	60781463	60781463	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:60781463T>C	ENST00000313421.7	+	8	1550	c.1364T>C	c.(1363-1365)gTc>gCc	p.V455A	CD6_ENST00000344028.5_Intron|CD6_ENST00000346437.4_Intron|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000352009.5_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.V455A	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	455					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TATCAACCGGTCCCCATCACC	0.592000													7	119					0	0	0.038147	0	0
EXT2	2132	broad.mit.edu	37	11	44228502	44228502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:44228502G>T	ENST00000395673.3	+	10	1810	c.1754G>T	c.(1753-1755)gGt>gTt	p.G585V	EXT2_ENST00000343631.3_Missense_Mutation_p.G552V|EXT2_ENST00000358681.4_Missense_Mutation_p.G562V|EXT2_ENST00000533608.1_Missense_Mutation_p.G552V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGCAATTTGGTTATGAGGTA	0.348000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				44	187					1.89013e-27	3.145e-27	0.139131	1	0
BEGAIN	57596	broad.mit.edu	37	14	101005479	101005479	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:101005479G>A	ENST00000556751.1	-	5	3821	c.417C>T	c.(415-417)tcC>tcT	p.S139S	BEGAIN_ENST00000443071.2_Silent_p.S203S|BEGAIN_ENST00000355173.2_Silent_p.S203S|CTD-2062F14.3_ENST00000553301.1_lincRNA			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	203						cytoplasm|membrane	protein binding	p.S203S(1)		cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGTCGCGGGCGGAGGCATCGG	0.697000													5	15					0	0	0.029380	0	0
PRR16	51334	broad.mit.edu	37	5	120022158	120022158	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:120022158G>T	ENST00000379551.2	+	3	957	c.600G>T	c.(598-600)cgG>cgT	p.R200R	PRR16_ENST00000407149.2_Silent_p.R223R|PRR16_ENST00000505123.1_Silent_p.R153R|PRR16_ENST00000446965.1_Silent_p.R153R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	223	Pro-rich.							p.R200R(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTGATACCCGGTATAACATAA	0.512000													33	84					9.78485e-24	1.55119e-23	0.173368	1	0
STPG2	285555	broad.mit.edu	37	4	98480220	98480220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:98480220C>T	ENST00000295268.3	-	11	1458	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.D457N(2)									CACATTATATCAGCAGCCATT	0.284000													25	124					0	0	0.163468	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182405	57182405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:57182405G>T	ENST00000504228.1	+	6	2842	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A913S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A906S			Q6ZU35	K1211_HUMAN	KIAA1211	913								p.A913S(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCGGAAGCAAGCCCCTTCCAC	0.687000													18	65					2.35188e-11	2.96563e-11	0.175082	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702834	40702834	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:40702834A>C	ENST00000356699.5	+	4	520	c.491A>C	c.(490-492)gAt>gCt	p.D164A	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.D164A(4)									CATCCTCAGGATCTGGCCTCC	0.587000													87	393					0	0	0.139131	0	0
LHCGR	3973	broad.mit.edu	37	2	48941147	48941147	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:48941147T>G	ENST00000294954.7	-	7	604	c.583A>C	c.(583-585)Aat>Cat	p.N195H	LHCGR_ENST00000403273.1_Missense_Mutation_p.N195H|LHCGR_ENST00000401907.1_Missense_Mutation_p.N195H|LHCGR_ENST00000344775.3_Missense_Mutation_p.N195H|LHCGR_ENST00000405626.1_Missense_Mutation_p.N195H|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	195					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.N195H(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCGTCCCATTGAATGCATGA	0.378000													4	60					0	0	0.150653	0	0
TRIM55	84675	broad.mit.edu	37	8	67064862	67064862	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:67064862G>A	ENST00000315962.4	+	8	1609	c.1236_splice	c.e8+1	p.Q412_splice	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Splice_Site_p.Q412_splice|TRIM55_ENST00000353317.5_Splice_Site_p.Q412_splice	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	412						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGTGACACAGGTAACCCCTC	0.542000													27	138					0	0	0.116897	0	0
AE000661.37	0	broad.mit.edu	37	14	22951283	22951283	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22951283G>T	ENST00000514473.2	-	0	107				TRAJ54_ENST00000390484.1_RNA																							GTGTAATTCAGGGAGCCCAGA	0.532000													11	41					4.36969e-10	5.30511e-10	0.105934	1	0
STARD13	90627	broad.mit.edu	37	13	33704350	33704350	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:33704350C>A	ENST00000336934.5	-	5	580	c.464G>T	c.(463-465)cGt>cTt	p.R155L	STARD13_ENST00000255486.4_Missense_Mutation_p.R147L|STARD13_ENST00000399365.3_Missense_Mutation_p.R37L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	155					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R155L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTCGTCCACACGAGACCACCT	0.552000													14	53					0.000151284	0.000162158	0.105934	1	0
NYNRIN	57523	broad.mit.edu	37	14	24877306	24877306	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:24877306G>T	ENST00000382554.3	+	3	748	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	144					DNA integration	integral to membrane	DNA binding	p.G144C(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGCGCTGGGGCCCTGCCCC	0.687000													14	46					6.31663e-08	7.30889e-08	0.132662	1	0
CLDN14	23562	broad.mit.edu	37	21	37833580	37833580	+	Missense_Mutation	SNP	C	C	A	rs142846225	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:37833580C>A	ENST00000399137.1	-	3	1280	c.414G>T	c.(412-414)tgG>tgT	p.W138C	CLDN14_ENST00000399136.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399135.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399139.1_Missense_Mutation_p.W138C|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000342108.2_Missense_Mutation_p.W138C|AP000695.6_ENST00000429588.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	138					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.W138C(2)		endometrium(1)|lung(5)|skin(1)	7						CGTTGGTGGTCCAGGAGACGG	0.637000													19	130					8.34094e-07	9.37288e-07	0.204396	1	0
OSBPL6	114880	broad.mit.edu	37	2	179259071	179259071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179259071G>T	ENST00000190611.4	+	24	2981	c.2605G>T	c.(2605-2607)Gca>Tca	p.A869S	OSBPL6_ENST00000359685.3_Missense_Mutation_p.A833S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.A873S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.A833S|OSBPL6_ENST00000409045.3_Missense_Mutation_p.A838S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A894S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	869					lipid transport		lipid binding	p.A894S(2)|p.A869S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGAAGCTGCAGCATCAGAGAA	0.348000													58	145					3.94896e-32	6.96401e-32	0.139131	1	0
NUPL1	9818	broad.mit.edu	37	13	25881957	25881957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:25881957G>T	ENST00000463407.1	+	2	264	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	NUPL1_ENST00000381718.3_Missense_Mutation_p.G41W|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.G41W			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	41	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.G41W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCCTTCTGTGGGGCTCAATTT	0.378000													22	123					9.95505e-16	1.37751e-15	0.069288	1	0
IFNA2	3440	broad.mit.edu	37	9	21384955	21384955	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:21384955C>A	ENST00000380206.2	-	1	441	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	125					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G125V(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CACCCCCACCCCCTGTATCAC	0.483000													36	311					9.62906e-15	1.30256e-14	0.086207	1	0
CADPS	8618	broad.mit.edu	37	3	62636588	62636588	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:62636588G>C	ENST00000383710.4	-	5	1486	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	CADPS_ENST00000490353.2_Missense_Mutation_p.I379M|CADPS_ENST00000283269.9_Missense_Mutation_p.I379M|CADPS_ENST00000357948.3_Missense_Mutation_p.I379M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	379					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I379M(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCCCATGTCGATGATGGAAG	0.522000													37	165					0	0	0.098360	0	0
OR2M7	391196	broad.mit.edu	37	1	248487866	248487866	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248487866G>T	ENST00000317965.2	-	1	33	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2E(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCTCCCATGCCATGATGAA	0.428000													83	327					6.11987e-43	1.14263e-42	0.139131	1	0
RAB3C	115827	broad.mit.edu	37	5	58120870	58120870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:58120870C>A	ENST00000282878.4	+	4	546	c.377C>A	c.(376-378)aCt>aAt	p.T126N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	126					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.T126N(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGTCAACTCAAATCAAA	0.418000													27	118					4.7796e-09	5.66611e-09	0.099896	1	0
IGSF5	150084	broad.mit.edu	37	21	41137527	41137527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:41137527G>T	ENST00000380588.4	+	3	269	c.166G>T	c.(166-168)Gct>Tct	p.A56S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	56	Ig-like V-type 1.					integral to membrane|tight junction		p.A56S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGGCTCCCAGGCTCGCTTCAA	0.527000													21	103					3.85864e-22	5.95305e-22	0.076483	1	0
TARSL2	123283	broad.mit.edu	37	15	102197168	102197168	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:102197168C>T	ENST00000335968.3	-	18	2433	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	739					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.K739K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGTATTTTCTTATTTAGTG	0.313000													19	41					0	0	0.204396	0	0
TTN	7273	broad.mit.edu	37	2	179587794	179587794	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179587794C>G	ENST00000589042.1	-	75	22164	c.21940G>C	c.(21940-21942)Gga>Cga	p.G7314R	TTN_ENST00000591111.1_Missense_Mutation_p.G6997R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6070R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6997	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGAGCTCCACAAACATCC	0.368000													4	84					0	0	0.150653	0	0
FRAS1	80144	broad.mit.edu	37	4	79367972	79367972	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:79367972T>A	ENST00000264895.6	+	43	6388	c.5948T>A	c.(5947-5949)cTg>cAg	p.L1983Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1982					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L1983Q(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTTTGAGCCTGCAAGACCTG	0.478000													4	36					0	0	0.184627	0	0
DNAH9	1770	broad.mit.edu	37	17	11603083	11603083	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:11603083G>A	ENST00000262442.3	+	23	4976	c.4908G>A	c.(4906-4908)atG>atA	p.M1636I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M1636I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1636	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGACAACATGGCCAAGATGC	0.468000													6	117					0	0	0.021553	0	0
CALHM2	51063	broad.mit.edu	37	10	105209690	105209690	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:105209690G>T	ENST00000393235.1	-	3	1206	c.9C>A	c.(7-9)gcC>gcA	p.A3A	CALHM2_ENST00000260743.5_Silent_p.A3A|CALHM2_ENST00000369788.3_Silent_p.A3A|CALHM2_ENST00000494180.1_5'UTR			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	3						integral to membrane		p.A3A(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGCGATCAGGGCTGCCATGG	0.587000													62	103					1.74971e-23	2.75934e-23	0.139131	1	0
RASGRF2	5924	broad.mit.edu	37	5	80408586	80408586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:80408586C>A	ENST00000265080.4	+	14	2063	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	666	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L666M(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAACACCTTTCTGCACACCTA	0.512000													89	340					1.26458e-31	2.21073e-31	0.139131	1	0
BORA	79866	broad.mit.edu	37	13	73319235	73319235	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:73319235T>A	ENST00000390667.5	+	8	725	c.628T>A	c.(628-630)Tcg>Acg	p.S210T	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.S140T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	210	Ser-rich.		S -> L (in dbSNP:rs9543107).		cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	p.S210T(2)									CTCCTTACCTTCGGCTTCTCC	0.448000													32	257					0	0	0.139131	0	0
SHPRH	257218	broad.mit.edu	37	6	146262871	146262871	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:146262871C>G	ENST00000367503.3	-	10	2776	c.2378G>C	c.(2377-2379)cGt>cCt	p.R793P	SHPRH_ENST00000367505.2_Missense_Mutation_p.R793P|SHPRH_ENST00000275233.7_Missense_Mutation_p.R793P|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R793P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCGTAGGCGACGCCCATCCTC	0.468000													31	71					0	0	0.144211	0	0
NNMT	4837	broad.mit.edu	37	11	114182861	114182861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:114182861C>T	ENST00000535401.1	+	5	721	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P153S|NNMT_ENST00000545255.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	153					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGGGCCGTCCCCTTACCCCC	0.622000													10	218					0	0	0.069234	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449458	124449458	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:124449458G>T	ENST00000523984.1	+	5	440	c.212G>T	c.(211-213)aGa>aTa	p.R71I	WDYHV1_ENST00000523356.1_Missense_Mutation_p.R131I|WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000287387.2_Missense_Mutation_p.R131I			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	131					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.R131I(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AGGAAATTTAGAGTGATCCGT	0.408000													25	136					1.64293e-13	2.16666e-13	0.083992	1	0
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:10930655C>A	ENST00000283141.6	+	19	1837	c.1541C>A	c.(1540-1542)aCc>aAc	p.T514N	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358000													6	101					0.0293803	0.0298247	0.029380	1	0
ZP1	22917	broad.mit.edu	37	11	60636728	60636728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:60636728G>T	ENST00000278853.5	+	2	307	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	103					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V103L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGCCACGTGCTGGAGAA	0.572000													9	47					0.00136819	0.00142604	0.093190	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1893703	1893703	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:1893703C>T	ENST00000518288.1	+	28	3514	c.3351C>T	c.(3349-3351)tcC>tcT	p.S1117S	ARHGEF10_ENST00000520359.1_Silent_p.S1055S|ARHGEF10_ENST00000262112.6_Silent_p.S1089S|ARHGEF10_ENST00000349830.3_Silent_p.S1093S|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000398564.1_Silent_p.S1118S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1118					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.S870S(1)|p.S1118S(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGCCGTGTCCGGCGTCGGGA	0.597000													12	27					0	0	0.080935	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628585	20628585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:20628585G>T	ENST00000525748.1	+	4	985	c.712G>T	c.(712-714)Gct>Tct	p.A238S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	238					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A238S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATGATGCTGGCTCTGGCTGG	0.567000													40	108					4.57556e-38	8.40012e-38	0.131918	1	0
KIF27	55582	broad.mit.edu	37	9	86506225	86506225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:86506225T>A	ENST00000297814.2	-	6	1937	c.1794A>T	c.(1792-1794)agA>agT	p.R598S	KIF27_ENST00000413982.1_Missense_Mutation_p.R598S|KIF27_ENST00000334204.2_Missense_Mutation_p.R598S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	598					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R598S(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGGAATCTTGTCTTGATGGGA	0.358000													22	249					0	0	0.069288	0	0
FHDC1	85462	broad.mit.edu	37	4	153889217	153889217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:153889217G>A	ENST00000511601.1	+	10	1374	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E396K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	396	FH2.				actin cytoskeleton organization		actin binding	p.E396K(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGGGATGGTGAACTTTGTCA	0.453000													64	208					0	0	0.139131	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336927	162336927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:162336927G>T	ENST00000493151.1	+	2	2673	c.306G>T	c.(304-306)gaG>gaT	p.E102D	NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E392D|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E83D|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E397D	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	397	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.E397D(4)|p.E102D(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTAAGCCAGAGGACCTGCATT	0.667000													69	291					1.07941e-43	2.02474e-43	0.139131	1	0
RFC3	5983	broad.mit.edu	37	13	34404943	34404943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:34404943A>T	ENST00000380071.3	+	6	791	c.661A>T	c.(661-663)Aga>Tga	p.R221*	RFC3_ENST00000434425.1_Nonsense_Mutation_p.R221*	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.R221*(4)		lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAAGTCTTGTAGAAATCTCAG	0.433000													10	84					0	0	0.069234	0	0
ARMC5	79798	broad.mit.edu	37	16	31473953	31473953	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:31473953G>C	ENST00000457010.2	+	3	1786	c.1085G>C	c.(1084-1086)cGg>cCg	p.R362P	ARMC5_ENST00000538189.1_Missense_Mutation_p.R394P|ARMC5_ENST00000563544.1_Missense_Mutation_p.R362P|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.R362P|ARMC5_ENST00000408912.3_Missense_Mutation_p.R457P	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	362							binding	p.R362P(1)|p.R457P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCATCAACCGGGCCCGACTG	0.652000													23	64					0	0	0.069288	0	0
IGLON5	402665	broad.mit.edu	37	19	51828677	51828677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51828677G>T	ENST00000270642.8	+	4	469	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	157	Ig-like C2-type 2.					extracellular region		p.V157L(2)		large_intestine(5)|lung(6)|prostate(1)	12						TTGCCTGGCCGTGGGGCGGCC	0.667000													6	45					0.00198382	0.00205704	0.029380	1	0
CSMD3	114788	broad.mit.edu	37	8	113569119	113569119	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:113569119T>A	ENST00000297405.5	-	25	4351	c.4107A>T	c.(4105-4107)caA>caT	p.Q1369H	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q1265H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q1369H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q1329H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7.					integral to membrane|plasma membrane		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAGTGGCCTTGGTCACTGA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	93					0	0	0.139131	0	0
C1orf173	127254	broad.mit.edu	37	1	75097613	75097613	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:75097613C>G	ENST00000326665.5	-	7	822		c.e7-1		C1orf173_ENST00000420661.2_Splice_Site	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173									p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTGCCCTGTAATCATA	0.368000													15	180					0	0	0.160694	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596192	24596192	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:24596192G>C	ENST00000535378.1	-	4	1325	c.683C>G	c.(682-684)cCc>cGc	p.P228R	KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.P237R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCGGCAAGGGAAGCAACAC	0.547000													9	179					0	0	0.047766	0	0
IFT80	57560	broad.mit.edu	37	3	159998598	159998598	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:159998598T>A	ENST00000326448.7	-	15	1953	c.1521A>T	c.(1519-1521)acA>acT	p.T507T	IFT80_ENST00000483465.1_Silent_p.T370T|RP11-432B6.3_ENST00000483754.1_Silent_p.T678T|IFT80_ENST00000496589.1_Silent_p.T370T	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	507						cilium axoneme|microtubule basal body		p.T507T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATGCACCATTGTTCCTTAAT	0.313000													22	53					0	0	0.076483	0	0
MMP9	4318	broad.mit.edu	37	20	44637627	44637627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:44637627C>T	ENST00000372330.3	+	1	81	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	21					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.P21L(2)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGCTGCCCCCAGACAGCGC	0.617000													17	34					0	0	0.146539	0	0
FAM171B	165215	broad.mit.edu	37	2	187626258	187626258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:187626258G>T	ENST00000304698.5	+	8	1392	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	397						integral to membrane	DNA binding	p.V397F(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAACTTGAGGTCCTCAAGAG	0.358000													99	240					1.70186e-65	3.32124e-65	0.139131	1	0
KIAA0020	9933	broad.mit.edu	37	9	2820099	2820099	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:2820099C>A	ENST00000397885.2	-	13	1395		c.e13-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum|nucleolus	RNA binding	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGTATTGGCCCTGCAAGAATT	0.403000													8	55					0.0477658	0.0484069	0.047766	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794437	15794437	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:15794437G>A	ENST00000550308.1	+	7	1162	c.782G>A	c.(781-783)cGc>cAc	p.R261H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R261H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGGCCTGCCGCCTGGTGCAT	0.552000													6	183					0	0	0.038147	0	0
GPR141	353345	broad.mit.edu	37	7	37780650	37780650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:37780650C>A	ENST00000447769.1	+	4	944	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.Q219K			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	219						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q219K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTATCCCACCAGGAGTTCTG	0.418000													65	271					7.05995e-25	1.13864e-24	0.139131	1	0
KIAA0930	23313	broad.mit.edu	37	22	45598869	45598869	+	Splice_Site	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:45598869A>C	ENST00000336156.4	-	7	918		c.e7+1		KIAA0930_ENST00000251993.7_Splice_Site|KIAA0930_ENST00000443310.3_Splice_Site|KIAA0930_ENST00000391627.2_Splice_Site	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding	p.?(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCAGCCCTTACCCGCTCGTG	0.652000													26	81					0	0	0.108266	0	0
POTEE	445582	broad.mit.edu	37	2	131976304	131976304	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:131976304G>C	ENST00000356920.5	+	1	423	c.329G>C	c.(328-330)aGg>aCg	p.R110T	POTEE_ENST00000358087.5_Missense_Mutation_p.R110T|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	110							ATP binding										CCCTGCTGCAGGGGGAGCGGC	0.597000													5	183					0	0	0.105934	0	0
MYO1G	64005	broad.mit.edu	37	7	45011815	45011815	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:45011815C>G	ENST00000258787.7	-	6	764	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	210	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.G210R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTCACTGCCTCTCAGCAAC	0.507000													40	158					0	0	0.092188	0	0
CHPF	79586	broad.mit.edu	37	2	220404338	220404338	+	Missense_Mutation	SNP	C	C	G	rs149014949		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:220404338C>G	ENST00000243776.6	-	4	2343	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	CHPF_ENST00000535926.1_Missense_Mutation_p.E537Q	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	699						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.E699Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCAGCTCCTCTTCTTGTTCT	0.647000													13	114					0	0	0.146539	0	0
LOC101929762	101929762	broad.mit.edu	37	4	120116641	120116641	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:120116641T>C	ENST00000326780.3	-	3	384	c.330A>G	c.(328-330)tcA>tcG	p.S110S	RP11-455G16.1_ENST00000515843.1_5'UTR														p.S110S(1)									TATGCTCATATGAAATGTCCA	0.373000													2	6					0	0	0.115264	0	0
LIPK	643414	broad.mit.edu	37	10	90499787	90499787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:90499787C>T	ENST00000404190.1	+	7	851	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	284					lipid catabolic process	extracellular region	hydrolase activity	p.A284V(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACAATCCTGCGGGAACATCT	0.423000													58	76					0	0	0.139131	0	0
ADAM20	8748	broad.mit.edu	37	14	70991190	70991190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:70991190C>A	ENST00000256389.3	-	2	679	c.435G>T	c.(433-435)caG>caT	p.Q145H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	95					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q145H(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAGGGCATGCTGCTCTGTGT	0.522000													27	142					1.17739e-12	1.5228e-12	0.108266	1	0
FAM46A	55603	broad.mit.edu	37	6	82459626	82459626	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:82459626T>A	ENST00000369754.3	-	3	1484	c.1172A>T	c.(1171-1173)cAt>cTt	p.H391L	FAM46A_ENST00000320172.6_Missense_Mutation_p.H372L|FAM46A_ENST00000369756.3_Missense_Mutation_p.H453L			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	372										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TCTTCTTTCATGTCCCATCAG	0.438000													6	116					0	0	0.029380	0	0
KLHL20	27252	broad.mit.edu	37	1	173735426	173735426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:173735426G>T	ENST00000209884.4	+	8	1429	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E242D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	431					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.E431D(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTGTTGAGAGGTGATCTT	0.428000													116	274					4.61678e-68	9.02439e-68	0.139131	1	0
MGAM	8972	broad.mit.edu	37	7	141755465	141755465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:141755465C>A	ENST00000475668.2	+	28	3476	c.3422C>A	c.(3421-3423)tCc>tAc	p.S1141Y	MGAM_ENST00000549489.2_Missense_Mutation_p.S1141Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1141	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1141Y(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCACAGGTCCTATAGGAGA	0.542000													79	186					5.56462e-29	9.45437e-29	0.139131	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73165952	73165952	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:73165952A>T	ENST00000545377.1	+	21	2660	c.2484A>T	c.(2482-2484)gcA>gcT	p.A828A	ARHGEF28_ENST00000426542.2_Silent_p.A828A|ARHGEF28_ENST00000287898.5_Silent_p.A828A|ARHGEF28_ENST00000437974.1_Silent_p.A828A|ARHGEF28_ENST00000513042.2_Silent_p.A828A|ARHGEF28_ENST00000296799.4_Silent_p.A515A|ARHGEF28_ENST00000296794.6_Silent_p.A828A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A828A(4)									AGTTTGAAGCAGAATCTTGGA	0.408000													34	188					0	0	0.214465	0	0
OR51D1	390038	broad.mit.edu	37	11	4661635	4661635	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:4661635C>G	ENST00000357605.2	+	1	691	c.615C>G	c.(613-615)acC>acG	p.T205T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T205T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTGACACCAGGGTCAATG	0.468000													55	171					0	0	0.139131	0	0
ARID2	196528	broad.mit.edu	37	12	46233207	46233207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:46233207C>T	ENST00000334344.6	+	11	1598	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q86*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q327*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCCAGTCATCAAATGTTATC	0.413000			"""N, S, F"""		hepatocellular carcinoma								5	275					0	0	0.184627	0	0
CASC5	57082	broad.mit.edu	37	15	40917275	40917275	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:40917275A>T	ENST00000346991.5	+	11	5281	c.4891A>T	c.(4891-4893)Ata>Tta	p.I1631L	CASC5_ENST00000399668.2_Missense_Mutation_p.I1605L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1631					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGCTACAGAAATACATAATAT	0.363000													4	97					0	0	0.150653	0	0
MGAM	8972	broad.mit.edu	37	7	141765177	141765177	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:141765177C>A	ENST00000475668.2	+	38	4581	c.4527C>A	c.(4525-4527)acC>acA	p.T1509T	MGAM_ENST00000549489.2_Silent_p.T1509T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1509	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.T1509T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGTCATCACCCGCTCCACAT	0.597000													6	19					5.18039e-06	5.74648e-06	0.038147	1	0
STK31	56164	broad.mit.edu	37	7	23826529	23826529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:23826529C>A	ENST00000354639.3	+	20	2868	c.2404C>A	c.(2404-2406)Cct>Act	p.P802T	STK31_ENST00000433467.2_Missense_Mutation_p.P825T|STK31_ENST00000355870.3_Missense_Mutation_p.P825T|STK31_ENST00000428484.1_Missense_Mutation_p.P802T|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.P825T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCAACATGCCTTTAAATTC	0.368000													45	283					1.48734e-19	2.2264e-19	0.131918	1	0
VWF	7450	broad.mit.edu	37	12	6135206	6135206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:6135206C>A	ENST00000261405.5	-	23	3228	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	992	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.V992L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCACACACTTTCTCCTTG	0.557000													22	108					2.89027e-11	3.61433e-11	0.069288	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045525	142045525	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142045525C>A	ENST00000390392.3	+	0	164																											CCCGCAGTCCCCATGGAAACG	0.478000													21	363					0.00121646	0.00126899	0.204396	1	0
CFHR5	81494	broad.mit.edu	37	1	196967432	196967432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:196967432C>A	ENST00000367414.5	+	7	1273	c.1217C>A	c.(1216-1218)aCa>aAa	p.T406K	CFHR5_ENST00000256785.4_Missense_Mutation_p.T382K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	382	Sushi 7.				complement activation, alternative pathway	extracellular region		p.T382K(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAGACTGCACAGGTAAGATT	0.294000													18	84					6.49762e-13	8.46723e-13	0.175082	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1706003	1706003	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:1706003G>T	ENST00000397412.3	+	10	1344	c.1245G>T	c.(1243-1245)gtG>gtT	p.V415V	LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Silent_p.V412V|CRAMP1L_ENST00000293925.5_Silent_p.V415V|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	415						nucleus	DNA binding	p.V415V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TGGCTCGCGTGGTGCACTCCA	0.652000													5	25					0.184627	0.185703	0.184627	1	0
GAK	2580	broad.mit.edu	37	4	905514	905514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:905514T>A	ENST00000314167.4	-	4	439	c.329A>T	c.(328-330)gAg>gTg	p.E110V	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	110	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.E110V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTCTGACTCCTCTTTTCCTAT	0.507000													16	200					0	0	0.062417	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94731788C>T	ENST00000304338.3	+	21	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.P754P(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358000													18	154					0	0	0.189662	0	0
ENAH	55740	broad.mit.edu	37	1	225699552	225699552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:225699552C>A	ENST00000366844.2	-	10	1883	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	ENAH_ENST00000366843.2_Nonsense_Mutation_p.E478*|ENAH_ENST00000284563.6_Nonsense_Mutation_p.E725*	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	478	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	p.E478*(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTACAGGCTCTGAATCTTCC	0.313000													10	31					3.27435e-08	3.81429e-08	0.119110	1	0
CNTN2	6900	broad.mit.edu	37	1	205042265	205042265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:205042265C>A	ENST00000331830.4	+	22	3198	c.2914C>A	c.(2914-2916)Cca>Aca	p.P972T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	972	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P972T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATAGAAATCCCAGTGCCTGA	0.557000													33	111					1.45844e-13	1.92756e-13	0.173368	1	0
SPEG	10290	broad.mit.edu	37	2	220353298	220353298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:220353298G>T	ENST00000312358.7	+	33	8069	c.7937G>T	c.(7936-7938)cGg>cTg	p.R2646L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2646	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2646L(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCATCCCCCGGGCGGGCAAG	0.642000													45	99					7.05377e-20	1.06779e-19	0.139131	1	0
TMEM176A	55365	broad.mit.edu	37	7	150500824	150500824	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:150500824C>T	ENST00000484928.1	+	5	1040	c.459C>T	c.(457-459)atC>atT	p.I153I	TMEM176A_ENST00000461345.1_Silent_p.I94I|TMEM176A_ENST00000004103.3_Silent_p.I153I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	153						integral to membrane		p.I153I(2)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCGCATCTCCAGCTCGA	0.512000													47	103					0	0	0.139131	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775904	77775904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:77775904G>C	ENST00000521891.2	+	11	10402	c.9954G>C	c.(9952-9954)caG>caC	p.Q3318H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3269H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3273H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3292H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3269						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q3302H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTTgcagcagtaccaacagt	0.527000										HNSCC(33;0.089)			14	22					0	0	0.105934	0	0
PTH2R	5746	broad.mit.edu	37	2	209302554	209302554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:209302554C>A	ENST00000272847.2	+	4	572	c.359C>A	c.(358-360)gCc>gAc	p.A120D	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	120						integral to plasma membrane	parathyroid hormone receptor activity	p.A120D(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AAAACATGGGCCAATTATTCA	0.403000													11	126					6.40141e-05	6.94157e-05	0.080935	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811061	69811061	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:69811061C>T	ENST00000251566.4	-	2	857	c.827G>A	c.(826-828)gGa>gAa	p.G276E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	276						integral to membrane	glucuronosyltransferase activity	p.G276E(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAATCCTCCAACAAACTC	0.368000													29	109					0	0	0.134883	0	0
ZNF592	9640	broad.mit.edu	37	15	85326477	85326477	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:85326477G>C	ENST00000299927.3	+	1	593	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	ZNF592_ENST00000560079.2_Missense_Mutation_p.V191L			Q92610	ZN592_HUMAN	zinc finger protein 592	191					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAGTTTCCGGTTCCAGAGCT	0.537000													90	178					0	0	0.139131	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872401	125872401	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:125872401C>G	ENST00000393434.2	-	7	1093	c.744G>C	c.(742-744)acG>acC	p.T248T	ALDH1L1_ENST00000393431.2_Silent_p.T248T|ALDH1L1_ENST00000472186.1_Silent_p.T248T|ALDH1L1_ENST00000452905.2_Silent_p.T147T|ALDH1L1_ENST00000273450.3_Silent_p.T258T|ALDH1L1_ENST00000455064.2_Silent_p.T73T|ALDH1L1_ENST00000413612.1_5'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	248					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.T248T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGTGTTCAGCGTTGAGTTGA	0.562000													40	134					0	0	0.098360	0	0
ABCA9	10350	broad.mit.edu	37	17	67039769	67039769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:67039769C>A	ENST00000340001.4	-	6	872	c.661G>T	c.(661-663)Gtt>Ttt	p.V221F	ABCA9_ENST00000495634.1_Missense_Mutation_p.V221F|ABCA9_ENST00000453985.2_Missense_Mutation_p.V221F|ABCA9_ENST00000370732.2_Missense_Mutation_p.V221F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	221					transport	integral to membrane	ATP binding|ATPase activity	p.V221F(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCAGTTGCAACTCCTCCTTGG	0.328000													41	156					1.47244e-24	2.36217e-24	0.086207	1	0
CPEB1	64506	broad.mit.edu	37	15	83215961	83215961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:83215961G>A	ENST00000563800.1	-	10	3232	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*	CPEB1_ENST00000398591.2_Nonsense_Mutation_p.Q406*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.Q250*|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.Q479*|RP11-152F13.10_ENST00000562833.1_Silent_p.T210T|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.Q476*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000568757.1_Nonsense_Mutation_p.Q401*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.Q481*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	481	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.Q406*(2)|p.Q476*(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAACTCCGTTGGTTATTGAAA	0.413000													30	71					0	0	0.134883	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891215	2891215	+	Nonsense_Mutation	SNP	G	G	T	rs150535335	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:2891215G>T	ENST00000254528.3	+	4	1249	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	364					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.G364*(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGCTACCTGGGAGTGATAGA	0.522000													32	122					1.22384e-17	1.76209e-17	0.173368	1	0
ELOVL3	83401	broad.mit.edu	37	10	103988649	103988649	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:103988649A>T	ENST00000370005.3	+	4	674	c.453A>T	c.(451-453)acA>acT	p.T151T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	151					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.T151T(2)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACCACAGCACAGTGCTCGTGT	0.498000													57	131					0	0	0.139131	0	0
PAXIP1	22976	broad.mit.edu	37	7	154775016	154775016	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:154775016C>A	ENST00000404141.1	-	5	505	c.351G>T	c.(349-351)ctG>ctT	p.L117L	PAXIP1_ENST00000397192.1_Silent_p.L117L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	117	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.L83L(2)|p.L117L(2)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCAAAGCCCACAGGGCACTTC	0.423000													5	42					0.00116845	0.00121995	0.021553	1	0
SLC5A7	60482	broad.mit.edu	37	2	108604640	108604640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:108604640C>A	ENST00000264047.2	+	2	305	c.29C>A	c.(28-30)gCt>gAt	p.A10D	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A10D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	10					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.A10D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGACTGATAGCTATCATCGTG	0.443000													29	132					1.56442e-22	2.42595e-22	0.163468	1	0
OR10S1	219873	broad.mit.edu	37	11	123848123	123848123	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:123848123G>T	ENST00000531945.1	-	1	365	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATGACCTTGGGCACTGTCA	0.547000													6	70					4.68919e-08	5.44667e-08	0.069234	1	0
CHST13	166012	broad.mit.edu	37	3	126255153	126255153	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:126255153G>C	ENST00000319340.2	+	2	187	c.137G>C	c.(136-138)gGg>gCg	p.G46A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	46					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.G46A(2)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGGCTTGGTGGGGAGAAGAGA	0.607000													52	155					0	0	0.139131	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5319167	5319167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:5319167C>A	ENST00000274181.7	+	23	3729	c.3591C>A	c.(3589-3591)tgC>tgA	p.C1197*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1197	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1197*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCACTGGTGCTACCTGGTAC	0.532000													25	43					9.80776e-20	1.47728e-19	0.116897	1	0
UMODL1	89766	broad.mit.edu	37	21	43524089	43524089	+	Missense_Mutation	SNP	G	G	T	rs150059583		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:43524089G>T	ENST00000400427.1	+	9	1591	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	UMODL1_ENST00000400424.1_Missense_Mutation_p.V399L|C21orf128_ENST00000329015.2_Missense_Mutation_p.H48Q|UMODL1_ENST00000408989.2_Missense_Mutation_p.V471L|UMODL1_ENST00000408910.2_Missense_Mutation_p.V471L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	471	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.H48Q(4)|p.V399L(2)|p.V471L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGCTCACCGTGCAGGACCC	0.607000													74	212					4.12397e-46	7.82066e-46	0.139131	1	0
GARNL3	84253	broad.mit.edu	37	9	130073925	130073925	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:130073925C>G	ENST00000373387.4	+	3	582	c.230C>G	c.(229-231)gCc>gGc	p.A77G	GARNL3_ENST00000314904.5_Missense_Mutation_p.A77G|GARNL3_ENST00000435213.2_Missense_Mutation_p.A55G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	77					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.A59G(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATGCAACTGCCCTGCCTGGT	0.413000													16	150					0	0	0.132662	0	0
HSPH1	10808	broad.mit.edu	37	13	31713001	31713001	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:31713001C>T	ENST00000320027.5	-	16	2469	c.2125G>A	c.(2125-2127)Gct>Act	p.A709T	HSPH1_ENST00000429785.2_Missense_Mutation_p.A528T|HSPH1_ENST00000380406.5_Missense_Mutation_p.A668T|HSPH1_ENST00000445273.2_Missense_Mutation_p.A711T|HSPH1_ENST00000380405.4_Missense_Mutation_p.A665T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	709					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.A709T(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGTTCTTCAGCTTCCTGAAAC	0.328000													21	144					0	0	0.076483	0	0
PLXND1	23129	broad.mit.edu	37	3	129279567	129279567	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:129279567C>G	ENST00000393239.1	-	30	5172		c.e30-1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(2)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AAGTCTTTCACTGTGAGAGGA	0.483000													27	80					0	0	0.116897	0	0
UNC5B	219699	broad.mit.edu	37	10	73047403	73047403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:73047403G>T	ENST00000335350.6	+	6	1198	c.782G>T	c.(781-783)cGc>cTc	p.R261L	UNC5B_ENST00000373192.4_Missense_Mutation_p.R261L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	261	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.R261L(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCTCCAACCGCTGTGGCCGA	0.667000													18	131					1.56452e-12	2.01272e-12	0.189662	1	0
MXRA5	25878	broad.mit.edu	37	X	3241316	3241316	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:3241316A>C	ENST00000217939.6	-	5	2564	c.2410T>G	c.(2410-2412)Ttg>Gtg	p.L804V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	804						extracellular region		p.L804V(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTTAATCAATGGGGGTACT	0.473000													13	157					0	0	0.119110	0	0
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	G	C	rs148764513		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:3002623G>C	ENST00000381127.1	+	6	967	c.746G>C	c.(745-747)cGg>cCg	p.R249P	ARSF_ENST00000359361.2_Missense_Mutation_p.R249P|ARSF_ENST00000537104.1_Missense_Mutation_p.R249P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	249						extracellular region	arylsulfatase activity|metal ion binding	p.R249P(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCATGCGGGGGCACGAG	0.493000													27	64					0	0	0.125774	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306857	126306857	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:126306857G>A	ENST00000525144.2	-	12	1650	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	KIRREL3_ENST00000529097.2_Silent_p.R467R|KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000525704.2_Silent_p.R467R	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	467	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R467R(4)|p.R426R(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCACCGTATAGCGCCCCGATG	0.642000													18	26					0	0	0.189662	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719903	52719903	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:52719903A>T	ENST00000322088.6	+	9	1173	c.1115A>T	c.(1114-1116)cAg>cTg	p.Q372L	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q193L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q317L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	372	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.Q372L(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCCTGGCTCAGCTGAAGGAT	0.552000			Mis		clear cell ovarian carcinoma								37	98					0	0	0.080422	0	0
CALU	813	broad.mit.edu	37	7	128394426	128394426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:128394426G>T	ENST00000535623.1	+	4	1299	c.356G>T	c.(355-357)cGa>cTa	p.R119L	CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.R111L|CALU_ENST00000449187.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.R119L|CALU_ENST00000249364.4_Missense_Mutation_p.R111L	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	111	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	p.R111L(2)		kidney(2)|large_intestine(3)|lung(5)	10						GATGTAGAGCGACAGTGGAAG	0.483000													40	82					4.14481e-20	6.29802e-20	0.086207	1	0
ZNF285	26974	broad.mit.edu	37	19	44891467	44891467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:44891467T>A	ENST00000330997.4	-	4	1004	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K314*|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K321*	NM_152354.3	NP_689567.3			zinc finger protein 285									p.K314*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGTAGGGTTTGTCTCCTGAG	0.502000													25	188					0	0	0.099896	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644305	45644305	+	RNA	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:45644305T>G	ENST00000427229.2	+	0	476																											TTTGAAGATTTTTACCTAGAA	0.348000													16	30					0	0	0.189662	0	0
TPO	7173	broad.mit.edu	37	2	1544403	1544403	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:1544403G>A	ENST00000345913.4	+	16	2747	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	TPO_ENST00000349624.3_Missense_Mutation_p.E713K|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.E842K|TPO_ENST00000382198.1_Missense_Mutation_p.E713K|TPO_ENST00000329066.4_Missense_Mutation_p.E886K|TPO_ENST00000382201.3_Missense_Mutation_p.E829K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	886					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E886K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCATCTCGGAGACAGGCGG	0.642000													48	110					0	0	0.139131	0	0
LETMD1	25875	broad.mit.edu	37	12	51442900	51442900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:51442900G>T	ENST00000418425.2	+	2	225	c.206G>T	c.(205-207)gGg>gTg	p.G69V	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.G13V|LETMD1_ENST00000262055.4_Missense_Mutation_p.G69V|LETMD1_ENST00000380123.2_Missense_Mutation_p.G69V|LETMD1_ENST00000547008.1_Missense_Mutation_p.G69V|LETMD1_ENST00000552739.1_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	69	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding	p.G69V(2)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCGATTAATGGGAAATACCAT	0.398000													71	92					2.08929e-35	3.77823e-35	0.139131	1	0
RICTOR	253260	broad.mit.edu	37	5	38947422	38947422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:38947422C>A	ENST00000357387.3	-	32	4288	c.4258G>T	c.(4258-4260)Ggt>Tgt	p.G1420C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1444C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1420					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G1420C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATCTGAACCCCCATATGTG	0.383000													42	301					1.41504e-22	2.20563e-22	0.124865	1	0
MCPH1	79648	broad.mit.edu	37	8	6338368	6338368	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:6338368C>T	ENST00000344683.5	+	11	2183	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	703	BRCT 2.					microtubule organizing center		p.R703C(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAATTGCGCGTGGCTGCTG	0.512000													25	83					0	0	0.091800	0	0
RBM7	10179	broad.mit.edu	37	11	114276519	114276519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:114276519G>T	ENST00000541475.1	+	4	504	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	RBM7_ENST00000545678.1_Missense_Mutation_p.V26L|RBM7_ENST00000544582.1_Missense_Mutation_p.V146L|RBM7_ENST00000540163.1_Missense_Mutation_p.V146L|RBM7_ENST00000375490.5_Missense_Mutation_p.V147L|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.Q143H			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	146					meiosis		nucleotide binding|protein binding|RNA binding	p.V146L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGACAAGCAGTGGTAGGTTG	0.323000													33	61					1.06647e-15	1.47403e-15	0.193644	1	0
EDA2R	60401	broad.mit.edu	37	X	65824892	65824892	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:65824892G>A	ENST00000374719.3	-	3	320	c.264C>T	c.(262-264)ccC>ccT	p.P88P	EDA2R_ENST00000253392.5_Silent_p.P88P|EDA2R_ENST00000396050.1_Silent_p.P88P|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000450752.1_Silent_p.P88P|EDA2R_ENST00000456230.2_Silent_p.P88P	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	88					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.P88P(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCTCACCTGGGCAAACAGT	0.478000													9	16					0	0	0.080935	0	0
MNDA	4332	broad.mit.edu	37	1	158815548	158815548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:158815548C>A	ENST00000368141.4	+	5	1003	c.742C>A	c.(742-744)Cat>Aat	p.H248N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	248	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H248N(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAATATTTCCATGTGAAAGT	0.378000													27	100					7.07758e-08	8.16592e-08	0.099896	1	0
TSPAN33	340348	broad.mit.edu	37	7	128806740	128806740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:128806740C>A	ENST00000289407.4	+	6	690	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	194						integral to membrane		p.P194H(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGCCTACTCCTGACCAGGTG	0.557000													155	359					5.52588e-69	1.08189e-68	0.139131	1	0
SMURF1	57154	broad.mit.edu	37	7	98633309	98633309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:98633309A>C	ENST00000361125.1	-	17	2237	c.1918T>G	c.(1918-1920)Ttg>Gtg	p.L640V	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.L614V	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	640	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	p.L640V(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTCGTTCAAGTCTATTTTA	0.522000													10	78					0	0	0.093190	0	0
PRKCB	5579	broad.mit.edu	37	16	24046867	24046867	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:24046867C>A	ENST00000303531.7	+	5	680	c.529_splice	c.e5+1	p.L176_splice	PRKCB_ENST00000321728.7_Splice_Site_p.L176_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	176	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.L176L(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCATTGTCCTCGGTAGGTGGC	0.647000													23	125					6.32553e-13	8.2608e-13	0.099896	1	0
LRRC66	339977	broad.mit.edu	37	4	52860545	52860545	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:52860545T>G	ENST00000343457.3	-	4	2649	c.2643A>C	c.(2641-2643)taA>taC	p.*881Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	0						integral to membrane		p.*881Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGATTCTTATTTTAAAA	0.383000													7	114					0	0	0.047766	0	0
REG1P	5969	broad.mit.edu	37	2	79364020	79364020	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:79364020C>A	ENST00000444841.1	-	0	318																											AGCACAGACACCAGGTTACCT	0.517000													4	76					0.150653	0.151658	0.150653	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318931	21318931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:21318931G>T	ENST00000583088.1	+	3	1172	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A93S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.A93S(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGCCTTCCTTGCCTCCTGGCT	0.622000										Prostate(3;0.18)			10	61					2.32078e-09	2.7785e-09	0.132662	1	0
IGHG1	3500	broad.mit.edu	37	14	106208131	106208131	+	RNA	SNP	C	C	G	rs1127807		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:106208131C>G	ENST00000390548.2	-	0	671																											CTCGGGGCTGCCCTGTAGGGA	0.647000													77	186					0	0	0.139131	0	0
GNAQ	2776	broad.mit.edu	37	9	80537207	80537207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:80537207C>A	ENST00000286548.4	-	2	413	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	64					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.G64V(2)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTATCCTGACCCATGGATGAT	0.483000			Mis		uveal melanoma								45	178					2.68985e-26	4.40887e-26	0.139131	1	0
MDGA2	161357	broad.mit.edu	37	14	47601038	47601038	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:47601038C>T	ENST00000439988.2	-	5	596	c.597G>A	c.(595-597)aaG>aaA	p.K199K	MDGA2_ENST00000399232.2_Silent_p.K268K|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR			Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	199	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.K268K(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTTTAAGATCTTTGTTTCAC	0.328000													9	52					0	0	0.047766	0	0
COL25A1	84570	broad.mit.edu	37	4	109861765	109861765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:109861765C>A	ENST00000399132.1	-	10	1132	c.602G>T	c.(601-603)gGc>gTc	p.G201V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G201V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G197V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	201	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G201V(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGAGGGCCAGGGGGTCC	0.562000													11	209					1.58986e-06	1.77829e-06	0.069234	1	0
PCDH17	27253	broad.mit.edu	37	13	58209184	58209184	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:58209184G>C	ENST00000377918.3	+	1	2530	c.2504G>C	c.(2503-2505)aGc>aCc	p.S835T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	835					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S835T(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCACACCAGCTTCACCGGA	0.577000													7	54					0	0	0.038147	0	0
CD109	135228	broad.mit.edu	37	6	74440084	74440084	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:74440084A>T	ENST00000437994.2	+	4	725	c.294A>T	c.(292-294)gcA>gcT	p.A98A	CD109_ENST00000287097.5_Silent_p.A98A|CD109_ENST00000422508.2_Intron	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	98						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A98A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACAGTGCAGATGAGATTT	0.373000													62	107					0	0	0.139131	0	0
DSG3	1830	broad.mit.edu	37	18	29046538	29046538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:29046538C>A	ENST00000257189.4	+	11	1540	c.1457C>A	c.(1456-1458)cCc>cAc	p.P486H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	486	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P486H(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAGAGTACCCGATTTCAAT	0.378000													22	234					1.64293e-13	2.16666e-13	0.083992	1	0
RHOJ	57381	broad.mit.edu	37	14	63671738	63671738	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:63671738G>A	ENST00000316754.3	+	1	613	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RHOJ_ENST00000555125.1_Missense_Mutation_p.V51M|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	51					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.V51M(3)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAGGAATACGTGCCCACTGT	0.557000													14	96					0	0	0.160694	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651332	1651332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:1651332G>T	ENST00000399676.2	+	1	300	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	88	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G88C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCAAAGGGGGCTGTGGCTC	0.662000													41	290					1.19451e-25	1.94209e-25	0.139131	1	0
NPY2R	4887	broad.mit.edu	37	4	156135962	156135962	+	Missense_Mutation	SNP	G	G	T	rs147783618		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:156135962G>T	ENST00000329476.3	+	2	1360	c.871G>T	c.(871-873)Gtt>Ttt	p.V291F	NPY2R_ENST00000506608.1_Missense_Mutation_p.V291F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	291					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.V291F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAGCTTGCCGTTGACATTGA	0.527000													23	66					3.7963e-18	5.52522e-18	0.083992	1	0
LCE4A	199834	broad.mit.edu	37	1	152681629	152681629	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:152681629C>T	ENST00000368777.1	+	2	334	c.78C>T	c.(76-78)ccC>ccT	p.P26P	LCE4A_ENST00000335535.3_Silent_p.P26P			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	26	Cys-rich.				keratinization			p.P26P(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAAAATGTCCCTCAAAGTGTG	0.572000													74	301					0	0	0.139131	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961521	51961521	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:51961521G>T	ENST00000321424.3	-	1	187	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L41M|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L41M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	41	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L41M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACACACAGGCCCTCCTGC	0.597000													55	146					1.77205e-36	3.22384e-36	0.139131	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202398051	202398051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:202398051G>T	ENST00000406302.3	+	6	1068	c.915G>T	c.(913-915)caG>caT	p.Q305H	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.Q305H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	305					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.Q305H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAAGAAGCAGAATGTGGTGA	0.453000													14	53					0.000308642	0.000326479	0.132662	1	0
MED13	9969	broad.mit.edu	37	17	60064385	60064385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:60064385C>T	ENST00000397786.2	-	12	2444	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	790					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCATCTTCATCAGAATTGAAG	0.338000													4	74					0	0	0.150653	0	0
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000581580.1_Missense_Mutation_p.R101H|DCC_ENST00000412726.1_Missense_Mutation_p.R294H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517000													12	263					0	0	0.093190	0	0
TRAK1	22906	broad.mit.edu	37	3	42233088	42233088	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:42233088G>A	ENST00000327628.5	+	7	1129	c.729G>A	c.(727-729)gaG>gaA	p.E243E	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.E185E|TRAK1_ENST00000449246.1_Silent_p.E169E|TRAK1_ENST00000396175.1_Silent_p.E185E	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	243	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTATGAGGAGAAGGAGCAGC	0.547000											OREG0015501	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	18					0	0	0.184627	0	0
DEPDC7	91614	broad.mit.edu	37	11	33054339	33054339	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:33054339G>A	ENST00000311388.3	+	7	1612	c.1236_splice	c.e7+1	p.K412_splice	DEPDC7_ENST00000241051.3_Splice_Site_p.K421_splice	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	421					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.K421K(2)|p.K412K(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ATGTTTTTAAGGTAAAATTGT	0.294000													54	159					0	0	0.139131	0	0
GDNF	2668	broad.mit.edu	37	5	37815930	37815930	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:37815930C>A	ENST00000326524.2	-	3	658	c.459G>T	c.(457-459)gaG>gaT	p.E153D	GDNF_ENST00000381826.4_Missense_Mutation_p.E144D|GDNF_ENST00000344622.4_Missense_Mutation_p.E127D|GDNF_ENST00000427982.1_Missense_Mutation_p.E170D|GDNF_ENST00000515058.1_Missense_Mutation_p.E127D	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	p.E170D(2)|p.E153D(2)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTACGTTGTCTCAGCTGCAT	0.443000													55	267					8.99859e-20	1.36049e-19	0.139131	1	0
LAMA2	3908	broad.mit.edu	37	6	129511367	129511367	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:129511367A>T	ENST00000421865.2	+	11	1534	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	495	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G495G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAAGGAGGAGACTGTAGTC	0.403000													40	100					0	0	0.104719	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530120	80530120	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:80530120C>A	ENST00000295057.3	-	2	1481	c.825G>T	c.(823-825)gtG>gtT	p.V275V	LRRTM1_ENST00000409148.1_Silent_p.V275V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	275						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V275V(4)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGTCTCGAACACATGGGGCT	0.582000										HNSCC(69;0.2)			29	86					5.60225e-13	7.32415e-13	0.144211	1	0
ARMC5	79798	broad.mit.edu	37	16	31471201	31471201	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:31471201C>T	ENST00000457010.2	+	1	1057	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ARMC5_ENST00000538189.1_Missense_Mutation_p.P151L|ARMC5_ENST00000563544.1_Missense_Mutation_p.P119L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P119L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P214L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	119							binding	p.P214L(2)|p.P119L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGTCTAGTCCTACGCCGCCA	0.726000													9	41					0	0	0.058154	0	0
OR2M7	391196	broad.mit.edu	37	1	248487614	248487614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248487614A>T	ENST00000317965.2	-	1	285	c.257T>A	c.(256-258)tTg>tAg	p.L86*		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L86*(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCAGACAAGTAGTTGAA	0.493000													172	461					0	0	0.139131	0	0
TCEA2	6919	broad.mit.edu	37	20	62697832	62697832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:62697832G>T	ENST00000395053.3	+	2	231	c.76G>T	c.(76-78)Gga>Tga	p.G26*	TCEA2_ENST00000343484.5_Nonsense_Mutation_p.G26*|TCEA2_ENST00000361317.2_5'UTR|TCEA2_ENST00000465111.1_3'UTR			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	26	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G26*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTTCCAGGAGGGAGCCATGGA	0.557000													24	239					9.80776e-20	1.47728e-19	0.116897	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75932301	75932301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:75932301T>A	ENST00000262207.4	+	12	1699	c.1231T>A	c.(1231-1233)Tca>Aca	p.S411T	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S223T|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S225T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	411	LCCL 2.					extracellular region		p.S411T(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAGCCTGCTTCACATTGCCC	0.413000													11	164					0	0	0.069234	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414155	38414155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:38414155C>A	ENST00000377694.1	-	2	528	c.506G>T	c.(505-507)gGg>gTg	p.G169V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	169	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding	p.G169V(2)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CACCTGCGCCCCGGTGACGTT	0.577000													28	150					7.41945e-09	8.76976e-09	0.108266	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:46032564G>T	ENST00000334662.2	+	1	569	c.547G>T	c.(547-549)Gct>Tct	p.A183S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A183S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGGGCTTCCTCTCT	0.632000													100	255					9.98717e-52	1.91197e-51	0.139131	1	0
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652000													16	44					0	0	0.146539	0	0
LIG4	3981	broad.mit.edu	37	13	108861585	108861585	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:108861585G>A	ENST00000356922.4	-	2	2304	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	LIG4_ENST00000405925.1_Silent_p.L678L|LIG4_ENST00000442234.1_Silent_p.L678L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	678	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.L678L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGTTCTCCAGGTCAGGCTTT	0.383000								Non-homologous end-joining					21	105					0	0	0.062417	0	0
DCHS2	54798	broad.mit.edu	37	4	155298498	155298498	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:155298498G>T	ENST00000357232.3	-	3	332	c.333C>A	c.(331-333)atC>atA	p.I111I	DCHS2_ENST00000339452.1_Silent_p.I717I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	111	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I111I(2)|p.I717I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGAGGGTCGATCCGGAATG	0.463000													32	134					8.16721e-17	1.15527e-16	0.153744	1	0
LRRC7	57554	broad.mit.edu	37	1	70504811	70504811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:70504811A>G	ENST00000310961.5	+	22	3623	c.3205A>G	c.(3205-3207)Aaa>Gaa	p.K1069E	LRRC7_ENST00000035383.5_Missense_Mutation_p.K1064E|LRRC7_ENST00000415775.2_Missense_Mutation_p.K348E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1064						centrosome|focal adhesion|nucleolus	protein binding	p.K1064E(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCAGCAAAAACATCGC	0.463000													27	58					0	0	0.125774	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936140	94936140	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94936140C>G	ENST00000337425.5	-	2	166	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G31A|SERPINA9_ENST00000380365.3_Missense_Mutation_p.G13A|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	13					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.G31A(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGCACAGAGGCCAACAGCAAA	0.517000													45	114					0	0	0.139131	0	0
C9orf72	203228	broad.mit.edu	37	9	27556699	27556699	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:27556699C>T	ENST00000380003.3	-	8	1014	c.951G>A	c.(949-951)caG>caA	p.Q317Q	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	317								p.Q317Q(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AGGGTGGCATCTGCTTCACAG	0.473000													26	297					0	0	0.108266	0	0
VSNL1	7447	broad.mit.edu	37	2	17836616	17836616	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:17836616C>A	ENST00000406397.1	+	4	1056	c.531C>A	c.(529-531)agC>agA	p.S177R	VSNL1_ENST00000295156.4_Missense_Mutation_p.S177R|VSNL1_ENST00000404666.2_Missense_Mutation_p.S177R			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4.						calcium ion binding	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443000													22	137					5.35047e-06	5.9297e-06	0.083992	1	0
CLCN4	1183	broad.mit.edu	37	X	10176257	10176257	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:10176257G>C	ENST00000380833.4	+	9	1407	c.1016G>C	c.(1015-1017)gGg>gCg	p.G339A	CLCN4_ENST00000380829.1_Intron|CLCN4_ENST00000421085.2_Missense_Mutation_p.G245A	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	339						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.G339A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCTGCTTGGGGTCTTCGGG	0.572000													10	224					0	0	0.069234	0	0
LTBP1	4052	broad.mit.edu	37	2	33359928	33359928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:33359928G>T	ENST00000404816.2	+	5	1455	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	LTBP1_ENST00000418533.2_Missense_Mutation_p.G42C|LTBP1_ENST00000407925.1_Missense_Mutation_p.G42C|LTBP1_ENST00000402934.1_Missense_Mutation_p.G42C|LTBP1_ENST00000390003.4_Missense_Mutation_p.G42C|LTBP1_ENST00000404525.1_Missense_Mutation_p.G42C|LTBP1_ENST00000354476.3_Missense_Mutation_p.G368C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	368					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G368C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACCAAGGGCAGCTGTCA	0.547000													23	92					2.32416e-17	3.33047e-17	0.069288	1	0
FREM1	158326	broad.mit.edu	37	9	14748528	14748528	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:14748528G>T	ENST00000380881.4	-	32	6485	c.5670C>A	c.(5668-5670)tcC>tcA	p.S1890S	FREM1_ENST00000380880.3_Silent_p.S1889S|FREM1_ENST00000380894.1_Silent_p.S425S|FREM1_ENST00000422223.2_Silent_p.S1889S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1889					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGATGAAAGGAACCAGAAG	0.507000													9	445					3.09899e-07	3.52502e-07	0.047766	1	0
ZNF268	10795	broad.mit.edu	37	12	133779410	133779410	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:133779410A>T	ENST00000536435.2	+	6	1468	c.1138A>T	c.(1138-1140)Aaa>Taa	p.K380*	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.K219*|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.K380*|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	380						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTCACACCAGAAAACTCATTC	0.388000													19	23					0	0	0.175082	0	0
GRID1	2894	broad.mit.edu	37	10	87628799	87628799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:87628799C>A	ENST00000327946.7	-	6	1004	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	307						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D307Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCTGGGGGTCGCAGAGCAGG	0.582000										Multiple Myeloma(13;0.14)			75	97					7.97268e-31	1.38376e-30	0.139131	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125555897	125555897	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:125555897G>A	ENST00000431078.1	+	19	3578	c.3214_splice	c.e19+1	p.G1072_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1072	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1072S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGCAAGAATGGTGAGTGTGA	0.498000													13	52					0	0	0.093190	0	0
TRAV16	28667	broad.mit.edu	37	14	22459119	22459119	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22459119C>T	ENST00000390444.1	+	0	271																											ATCTTTCCACCTGAAGAAACC	0.463000													18	26					0	0	0.189662	0	0
LPPR4	9890	broad.mit.edu	37	1	99767413	99767413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:99767413A>C	ENST00000370185.3	+	6	1423	c.926A>C	c.(925-927)tAt>tCt	p.Y309S	LPPR4_ENST00000370184.1_Missense_Mutation_p.Y151S|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309							phosphatidate phosphatase activity	p.Y309S(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTTGATGTCTATTGTGGCTTT	0.358000													25	156					0	0	0.116897	0	0
RSPO2	340419	broad.mit.edu	37	8	109001368	109001368	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:109001368C>A	ENST00000517939.1	-	0	194				RSPO2_ENST00000276659.5_Missense_Mutation_p.G67W|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron			Q6UXX9	RSPO2_HUMAN	R-spondin 2						Wnt receptor signaling pathway	extracellular region	heparin binding	p.G67W(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGGCGCATCCCTTCTCTTCGA	0.468000													87	143					2.93434e-44	5.52131e-44	0.139131	1	0
FCRLA	84824	broad.mit.edu	37	1	161680697	161680697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:161680697C>A	ENST00000367959.2	+	3	538	c.296C>A	c.(295-297)tCc>tAc	p.S99Y	FCRLA_ENST00000309691.6_Missense_Mutation_p.S76Y|FCRLA_ENST00000236938.6_Missense_Mutation_p.S93Y|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367949.2_Missense_Mutation_p.S93Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.S53Y|FCRLA_ENST00000367953.3_Missense_Mutation_p.S82Y|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.S76Y|FCRLA_ENST00000546024.1_Missense_Mutation_p.S93Y|FCRLA_ENST00000540926.1_Missense_Mutation_p.S82Y|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000294796.4_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGATTGTGTCCTATGGTGAG	0.557000													36	172					6.29468e-14	8.37443e-14	0.214465	1	0
CUBN	8029	broad.mit.edu	37	10	16873350	16873350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:16873350G>T	ENST00000377833.4	-	65	10494	c.10429C>A	c.(10429-10431)Cct>Act	p.P3477T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3477	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P3477T(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAAGACAGGGTTTGGCAGC	0.393000													54	140					1.67886e-27	2.80895e-27	0.139131	1	0
HHATL	57467	broad.mit.edu	37	3	42738369	42738369	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:42738369C>A	ENST00000441594.1	-	9	1272	c.1010_splice	c.e9-1	p.T337_splice	HHATL_ENST00000310417.5_Splice_Site_p.T337_splice	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	337					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.T337T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGTCAAAGTGCCTGTAAGAGG	0.612000													12	36					2.27111e-07	2.59065e-07	0.093190	1	0
GLRX3	10539	broad.mit.edu	37	10	131958334	131958334	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:131958334G>T	ENST00000368644.1	+	3	298		c.e3+1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	p.?(4)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTTTTCAAGGTAAGGATAAA	0.368000													60	104					3.76997e-23	5.93758e-23	0.139131	1	0
LPA	4018	broad.mit.edu	37	6	160977165	160977165	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:160977165T>A	ENST00000447678.1	-	31	4985	c.4865A>T	c.(4864-4866)cAg>cTg	p.Q1622L	LPA_ENST00000316300.5_Missense_Mutation_p.Q1622L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4130	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Q1622L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGATAACTCTGGCCATTACC	0.483000													63	139					0	0	0.139131	0	0
TAF1L	138474	broad.mit.edu	37	9	32633787	32633787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:32633787C>A	ENST00000242310.4	-	1	1880	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	597					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCGAAGACCCTGTTGCTTGG	0.483000													103	325					2.19198e-39	4.04879e-39	0.139131	1	0
PDIA2	64714	broad.mit.edu	37	16	333356	333356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:333356C>A	ENST00000219406.6	+	1	205	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	PDIA2_ENST00000404312.1_Missense_Mutation_p.L63M	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	63	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	p.L63M(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCTGCCCTGCTGGTGGAATT	0.697000													20	41					8.45889e-32	1.48307e-31	0.083992	1	0
PROC	5624	broad.mit.edu	37	2	128183674	128183674	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:128183674T>A	ENST00000453608.2	+	6	722	c.714T>A	c.(712-714)tgT>tgA	p.C238*	PROC_ENST00000234071.3_Nonsense_Mutation_p.C183*|PROC_ENST00000422777.3_Nonsense_Mutation_p.C183*|PROC_ENST00000409048.1_Nonsense_Mutation_p.C217*			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	183	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	p.C183*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGTTCCCTTGTGGGAGGCCCT	0.597000													34	92					0	0	0.173368	0	0
NLRC4	58484	broad.mit.edu	37	2	32477681	32477681	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:32477681G>T	ENST00000404025.2	-	4	557	c.69C>A	c.(67-69)atC>atA	p.I23I	NLRC4_ENST00000360906.5_Silent_p.I23I|NLRC4_ENST00000402280.1_Silent_p.I23I|NLRC4_ENST00000342905.6_Silent_p.I23I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	23	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I23I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTCATCTGTGATTTGCTTTA	0.393000													59	148					3.53049e-34	6.35593e-34	0.139131	1	0
COL4A2	1284	broad.mit.edu	37	13	111132683	111132683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:111132683G>T	ENST00000360467.5	+	31	3010	c.2704G>T	c.(2704-2706)Gga>Tga	p.G902*		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	902	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G902*(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGCCATCCAGGAAGCCCTGG	0.592000													25	105					1.32003e-05	1.447e-05	0.108266	1	0
OR2W3	343171	broad.mit.edu	37	1	248059622	248059622	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:248059622T>A	ENST00000537741.1	+	3	991	c.734T>A	c.(733-735)cTc>cAc	p.L245H	OR2W3_ENST00000360358.3_Missense_Mutation_p.L245H			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245H(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCCATCTCACTGTGGTC	0.512000													19	272					0	0	0.189662	0	0
PALB2	79728	broad.mit.edu	37	16	23634330	23634330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:23634330C>A	ENST00000261584.4	-	9	3108	c.2956G>T	c.(2956-2958)Gat>Tat	p.D986Y	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	986	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.D986Y(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTTGTTGATCAGAAAGGGTC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					55	215					5.19286e-32	9.13097e-32	0.139131	1	0
PCYT1B	9468	broad.mit.edu	37	X	24597530	24597530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:24597530T>A	ENST00000379145.1	-	6	601	c.557A>T	c.(556-558)gAc>gTc	p.D186V	PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Missense_Mutation_p.D204V|PCYT1B_ENST00000356768.4_Missense_Mutation_p.D204V	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	204	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.D204V(4)|p.D186V(2)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGTAATGATGTCCGATGTTGA	0.428000													71	90					0	0	0.139131	0	0
SRRM2	23524	broad.mit.edu	37	16	2814828	2814828	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:2814828A>G	ENST00000301740.8	+	11	4848	c.4299A>G	c.(4297-4299)agA>agG	p.R1433R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1433	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTTACCCAGAACTCCATCAA	0.512000													15	368					0	0	0.119110	0	0
REG3A	5068	broad.mit.edu	37	2	79384728	79384728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:79384728C>T	ENST00000393878.1	-	4	684	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	REG3A_ENST00000305165.2_Missense_Mutation_p.G144S|REG3A_ENST00000409839.3_Missense_Mutation_p.G144S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	144	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G144S(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCACAGTGGCCGGGGCTTGAG	0.542000													7	164					0	0	0.047766	0	0
MUC21	394263	broad.mit.edu	37	6	30954905	30954905	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:30954905C>A	ENST00000376296.3	+	2	1194	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	318	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S318Y(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGACTCCAGC	0.612000													24	205					1.39806e-14	1.88278e-14	0.134883	1	0
MYB	4602	broad.mit.edu	37	6	135539023	135539023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:135539023C>A	ENST00000341911.5	+	16	2390	c.2191C>A	c.(2191-2193)Cct>Act	p.P731T	MYB_ENST00000528774.1_Missense_Mutation_p.P728T|MYB_ENST00000442647.2_Missense_Mutation_p.P607T|MYB_ENST00000534121.1_Missense_Mutation_p.P715T|MYB_ENST00000534044.1_Missense_Mutation_p.P573T|MYB_ENST00000316528.8_Missense_Mutation_p.P696T|MYB_ENST00000533624.1_Missense_Mutation_p.P575T|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Missense_Mutation_p.P610T|MYB_ENST00000525369.1_Missense_Mutation_p.P525T	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	610					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.P731T(2)|p.P610T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCTGGGAACCTGCATCCTG	0.517000			T	NFIB	adenoid cystic carcinoma								61	160					6.20203e-27	1.02211e-26	0.139131	1	0
NPC1	4864	broad.mit.edu	37	18	21140248	21140248	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:21140248G>A	ENST00000269228.5	-	6	1382	c.828C>T	c.(826-828)taC>taT	p.Y276Y	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.Y9Y	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	276					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.Y276Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACGCCATGTAGGTGATCC	0.507000													7	112					0	0	0.038147	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661623	113661623	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:113661623G>T	ENST00000393544.2	+	0	1671																											TAGGAAGCCAGACTCCACTGC	0.507000													26	70					4.3181e-19	6.40819e-19	0.173368	1	0
NHSL2	340527	broad.mit.edu	37	X	71360426	71360426	+	Missense_Mutation	SNP	G	G	T	rs140270842		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:71360426G>T	ENST00000373677.1	+	2	3192	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	NHSL2_ENST00000540800.1_Missense_Mutation_p.V1010L|NHSL2_ENST00000510661.1_Missense_Mutation_p.V779L|NHSL2_ENST00000535692.1_Missense_Mutation_p.V644L			F5H593	F5H593_HUMAN	NHS-like 2	1010								p.V1010L(2)|p.V641L(2)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAAACCCAGCGTGCTGTACCT	0.532000													23	23					1.55795e-14	2.09577e-14	0.062417	1	0
RABL3	285282	broad.mit.edu	37	3	120417341	120417341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:120417341T>A	ENST00000273375.3	-	5	492	c.463A>T	c.(463-465)Aca>Tca	p.T155S	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.T155S	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	155	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.T155S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGGCGCTTTGTTTCATGAATC	0.358000													158	482					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179589035	179589035	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179589035G>T	ENST00000589042.1	-	72	21291	c.21067C>A	c.(21067-21069)Caa>Aaa	p.Q7023K	TTN_ENST00000591111.1_Missense_Mutation_p.Q6706K|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5779K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6706	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTATTTTGAACCTGGAAA	0.393000													4	57					0.00024832	0.000263595	0.150653	1	0
HAS2	3037	broad.mit.edu	37	8	122641133	122641133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:122641133T>A	ENST00000303924.4	-	2	985	c.448A>T	c.(448-450)Aac>Tac	p.N150Y		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	150						integral to plasma membrane	hyaluronan synthase activity	p.N150Y(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGTTGTTCTTCCAGATA	0.438000													45	739					0	0	0.139131	0	0
BCAS1	8537	broad.mit.edu	37	20	52612502	52612502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:52612502C>A	ENST00000395961.3	-	5	977	c.811G>T	c.(811-813)Gca>Tca	p.A271S	BCAS1_ENST00000371440.3_Missense_Mutation_p.A271S|BCAS1_ENST00000434986.2_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.A271S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	271						cytoplasm	protein binding	p.A271S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCGTCCTTTGCAGTCTCCAGT	0.473000													33	108					3.21399e-22	4.9712e-22	0.214465	1	0
SLC12A5	57468	broad.mit.edu	37	20	44670048	44670048	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:44670048C>T	ENST00000454036.1	+	8	1080	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.T312M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	335					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAATGAGACGGTGACCACA	0.552000													9	117					0	0	0.047766	0	0
BMP7	655	broad.mit.edu	37	20	55748235	55748235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:55748235C>A	ENST00000450594.2	-	6	1673	c.1167G>T	c.(1165-1167)tgG>tgT	p.W389C	BMP7_ENST00000460817.1_Intron|BMP7_ENST00000395863.3_Intron|BMP7_ENST00000395864.3_Intron			P18075	BMP7_HUMAN	bone morphogenetic protein 7	247					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TGACCACACCCCAAGATGGCG	0.617000													11	40					3.07112e-06	3.41927e-06	0.080935	1	0
ABCC9	10060	broad.mit.edu	37	12	22089557	22089557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:22089557C>G	ENST00000261200.4	-	1	51	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	ABCC9_ENST00000326684.4_Missense_Mutation_p.G18R|ABCC9_ENST00000345162.2_Missense_Mutation_p.G18R|ABCC9_ENST00000538350.1_Missense_Mutation_p.G18R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G18R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	18					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G18R(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTAGTACACCATCGTTGATA	0.338000													23	72					0	0	0.069288	0	0
MSC	9242	broad.mit.edu	37	8	72754932	72754932	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:72754932A>T	ENST00000325509.4	-	2	874	c.585T>A	c.(583-585)gtT>gtA	p.V195V	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	195					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V195V(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGGCTGCGGAAACTTCTTTGG	0.468000													399	753					0	0	0.139131	0	0
SCG2	7857	broad.mit.edu	37	2	224463262	224463262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:224463262C>A	ENST00000305409.2	-	2	971	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	247					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.G247*(2)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGTCTTCTCCCCCGACCACA	0.413000													111	330					1.67525e-54	3.24311e-54	0.139131	1	0
RYR2	6262	broad.mit.edu	37	1	237729943	237729943	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:237729943G>A	ENST00000366574.2	+	28	3608	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	RYR2_ENST00000542537.1_Silent_p.K1081K|RYR2_ENST00000360064.6_Silent_p.K1095K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1097	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K1095K(2)|p.K1095N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGTGAAGGCCGGACGGT	0.557000													67	163					0	0	0.139131	0	0
NFAT5	10725	broad.mit.edu	37	16	69660388	69660388	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:69660388C>T	ENST00000432919.1	+	3	1418	c.210C>T	c.(208-210)agC>agT	p.S70S	NFAT5_ENST00000566899.1_5'UTR|NFAT5_ENST00000393742.2_5'UTR|NFAT5_ENST00000567239.1_Silent_p.S70S|NFAT5_ENST00000349945.1_5'UTR|NFAT5_ENST00000354436.2_Silent_p.S52S	NM_001113178.2|NM_138713.3	NP_001106649.1|NP_619727.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	52	Ser-rich.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S70S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCAGACAAGCGGTGGTGAGG	0.448000													9	127					0	0	0.093190	0	0
TENM2	57451	broad.mit.edu	37	5	167525048	167525048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:167525048C>A	ENST00000519204.1	+	8	1484	c.1366C>A	c.(1366-1368)Cca>Aca	p.P456T	TENM2_ENST00000545108.1_Missense_Mutation_p.P577T|TENM2_ENST00000518659.1_Missense_Mutation_p.P577T|TENM2_ENST00000403607.2_Missense_Mutation_p.P410T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.P345T					teneurin transmembrane protein 2									p.P577T(2)|p.P410T(2)|p.P456T(2)									GCAGGACTGTCCACGTAACTG	0.453000													16	39					0.000566183	0.000597336	0.160694	1	0
NNMT	4837	broad.mit.edu	37	11	114183054	114183054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:114183054G>T	ENST00000535401.1	+	5	914	c.650G>T	c.(649-651)gGc>gTc	p.G217V	NNMT_ENST00000542647.1_Missense_Mutation_p.G22V|NNMT_ENST00000541754.1_Missense_Mutation_p.G22V|NNMT_ENST00000299964.3_Missense_Mutation_p.G217V|NNMT_ENST00000545255.1_Missense_Mutation_p.G22V|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	217					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.G217V(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTCCCCCTGGGCCGGGAGGCA	0.547000													11	130					2.61681e-11	3.2894e-11	0.119110	1	0
OR8J1	219477	broad.mit.edu	37	11	56128272	56128272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:56128272C>A	ENST00000303039.3	+	1	582	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TAATGTTCCTCTGTTAGCATT	0.333000													29	98					9.39395e-14	1.24565e-13	0.116897	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784676	140784676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:140784676G>T	ENST00000573521.1	+	1	2157	c.2157G>T	c.(2155-2157)tgG>tgT	p.W719C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGCACTGGCACTCCTCGC	0.587000													33	84					1.30897e-18	1.92131e-18	0.144211	1	0
OR4D6	219983	broad.mit.edu	37	11	59224639	59224639	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:59224639T>C	ENST00000300127.2	+	1	229	c.206T>C	c.(205-207)cTg>cCg	p.L69P		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69P(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AAATCAGTCCTGGACATCGTT	0.463000													49	121					0	0	0.139131	0	0
DSEL	92126	broad.mit.edu	37	18	65178391	65178391	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:65178391G>A	ENST00000310045.7	-	2	4958	c.3485C>T	c.(3484-3486)gCt>gTt	p.A1162V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1152						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTTAAACTAGCAGGAGACAA	0.373000													4	75					0	0	0.184627	0	0
GRK5	2869	broad.mit.edu	37	10	121212231	121212231	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:121212231A>T	ENST00000392870.2	+	14	1782	c.1453A>T	c.(1453-1455)Act>Tct	p.T485S	GRK5_ENST00000369108.3_Missense_Mutation_p.T380S|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	485	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCAGTTCTCCACTGTGAAGGG	0.607000													6	89					0	0	0.029380	0	0
NCAPH	23397	broad.mit.edu	37	2	97008585	97008585	+	Splice_Site	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:97008585A>G	ENST00000455200.1	+	4	717	c.423_splice	c.e4+1	p.K141_splice	NCAPH_ENST00000427946.1_Splice_Site_p.K16_splice|NCAPH_ENST00000240423.4_Splice_Site_p.K152_splice			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	152					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.K152R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACCAACTTTAAAGTAAGAAGG	0.348000													7	70					0	0	0.029380	0	0
SCN9A	6335	broad.mit.edu	37	2	167133545	167133545	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:167133545T>A	ENST00000375387.4	-	16	3165	c.2825A>T	c.(2824-2826)cAa>cTa	p.Q942L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q930L|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q942L|SCN9A_ENST00000409435.1_Missense_Mutation_p.Q941L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	941						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q930L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCACATAGCTTGACCAGCGAC	0.448000													56	269					0	0	0.139131	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750472	41750472	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:41750472C>A	ENST00000226382.2	-	1	515	c.156G>T	c.(154-156)ggG>ggT	p.G52G	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	52					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G52G(2)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CGGACGTGGCCCCAAAAGTGG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				9	75					0.000673444	0.000707409	0.069234	1	0
ZNF560	147741	broad.mit.edu	37	19	9578614	9578614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:9578614C>A	ENST00000301480.4	-	10	1222	c.1009G>T	c.(1009-1011)Gta>Tta	p.V337L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V337L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCAACATTTACAGCATGGCTT	0.388000													5	134					0.000157383	0.000167801	0.038147	1	0
C9orf131	138724	broad.mit.edu	37	9	35045842	35045842	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:35045842C>A	ENST00000312292.5	+	2	3263	c.3216C>A	c.(3214-3216)ccC>ccA	p.P1072P	C9orf131_ENST00000421362.2_Silent_p.P1024P|C9orf131_ENST00000354479.5_Silent_p.P999P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1072								p.P1072P(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCATCGACCCCTACCCACCA	0.517000													83	245					1.19347e-43	2.23521e-43	0.139131	1	0
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:35836516C>A	ENST00000085219.5	+	12	2286	c.2220C>A	c.(2218-2220)gcC>gcA	p.A740A	CD22_ENST00000544992.2_Intron|CD22_ENST00000536635.2_Silent_p.A652A|CD22_ENST00000341773.6_Silent_p.A563A|CD22_ENST00000594250.1_Silent_p.A563A|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Silent_p.A568A	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	740					cell adhesion		protein binding|sugar binding	p.A740A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTAGAAGGGCCCCCCTCTCTG	0.582000													39	66					1.49673e-21	2.30032e-21	0.086207	1	0
USHBP1	83878	broad.mit.edu	37	19	17373540	17373540	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:17373540C>T	ENST00000252597.3	-	4	636	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.G91R	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	155							PDZ domain binding	p.G155R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTGCTCCCCCTTCGCTTGTG	0.687000													56	114					0	0	0.139131	0	0
ACTG1	71	broad.mit.edu	37	17	79479156	79479156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:79479156C>A	ENST00000575842.1	-	2	562	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	ACTG1_ENST00000575087.1_Missense_Mutation_p.G46C|ACTG1_ENST00000573283.1_Missense_Mutation_p.G46C|ACTG1_ENST00000331925.2_Missense_Mutation_p.G46C			P63261	ACTG_HUMAN	actin, gamma 1	46					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G46C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGGCCCATGCCCACCATGACG	0.667000													55	128					5.39261e-20	8.17349e-20	0.139131	1	0
SYNPO2	171024	broad.mit.edu	37	4	119948371	119948371	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:119948371C>T	ENST00000307142.4	+	3	1043	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R283W|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R283W	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	283						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R283W(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGACTGCCCCGGGTGGAAGT	0.557000													28	65					0	0	0.760397	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182681763	182681763	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:182681763T>C	ENST00000292782.4	-	3	448	c.295A>G	c.(295-297)Agc>Ggc	p.S99G	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.S84G	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	99	DCUN1.					ubiquitin ligase complex	protein binding	p.S99G(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACACTAATGCTGGCTGGATCG	0.418000													19	148					0	0	0.639603	0	0
FCRL4	83417	broad.mit.edu	37	1	157556176	157556176	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:157556176A>T	ENST00000271532.1	-	6	1052	c.917T>A	c.(916-918)cTg>cAg	p.L306Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	306	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.L306Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GACAAGGACCAGCATCTCCCC	0.602000													64	176					0	0	0.870114	0	0
NLRP2	55655	broad.mit.edu	37	19	55497607	55497607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:55497607G>T	ENST00000543010.1	+	8	2433	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	NLRP2_ENST00000448584.2_Missense_Mutation_p.G764C|NLRP2_ENST00000538819.1_Missense_Mutation_p.G740C|NLRP2_ENST00000339757.7_Missense_Mutation_p.G742C|NLRP2_ENST00000537859.1_Missense_Mutation_p.G742C|NLRP2_ENST00000427260.2_Missense_Mutation_p.G741C|NLRP2_ENST00000391721.4_Missense_Mutation_p.G740C|NLRP2_ENST00000263437.6_Missense_Mutation_p.G761C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	764					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.G764C(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCCTTCAAGGCAATGACCA	0.443000													17	38					6.94344e-10	8.43581e-10	0.539581	1	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328321	21328321	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:21328321C>T	ENST00000444326.1	+	0	437																		p.P67S(1)									CGATGAAGTGCCTTTCTACAT	0.423000													13	540					0	0	0.479597	0	0
CSMD3	114788	broad.mit.edu	37	8	113348989	113348989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113348989G>T	ENST00000297405.5	-	44	7155	c.6911C>A	c.(6910-6912)cCa>cAa	p.P2304Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2234Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2264Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2200Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2304	CUB 13.					integral to membrane|plasma membrane		p.P2304Q(1)|p.P2264Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGTTTGGATATTCATC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	242					2.17888e-05	2.4275e-05	0.335167	1	0
ZMYM4	9202	broad.mit.edu	37	1	35847281	35847281	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:35847281G>T	ENST00000314607.6	+	9	1571	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	ZMYM4_ENST00000373297.2_Silent_p.S497S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	497					multicellular organismal development		DNA binding|zinc ion binding	p.S497S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTGGGTCGGGACAATGCC	0.433000													35	317					4.14481e-20	6.03188e-20	0.819951	1	0
TRPM4	54795	broad.mit.edu	37	19	49704042	49704042	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:49704042G>T	ENST00000252826.5	+	19	3079	c.2953_splice	c.e19+1	p.V985_splice	TRPM4_ENST00000427978.2_Splice_Site_p.V840_splice|TRPM4_ENST00000355712.5_Splice_Site_p.V631_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	985					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.V985L(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACATGGACGGTAGGGGGGA	0.592000													7	15					0.000442599	0.000479185	0.335167	1	0
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:153691700C>A	ENST00000304337.2	-	2	1277	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.G153C(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACTGGTACACCTGTAGCTTCT	0.363000													16	42					0.00121646	0.00128971	0.575678	1	0
CYB561A3	220002	broad.mit.edu	37	11	61121427	61121427	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:61121427C>G	ENST00000426130.2	-	5	1052	c.273G>C	c.(271-273)ggG>ggC	p.G91G	CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000447532.2_Silent_p.G74G|CYB561A3_ENST00000536915.1_Silent_p.G74G|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000294072.4_Silent_p.G74G|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3									p.G91G(2)|p.G74G(2)									GCAGTTTGGGCCCCACCCACG	0.607000													13	53					0	0	0.520397	0	0
EDIL3	10085	broad.mit.edu	37	5	83239283	83239283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:83239283C>G	ENST00000296591.5	-	11	1816	c.1398G>C	c.(1396-1398)agG>agC	p.R466S	EDIL3_ENST00000380138.3_Missense_Mutation_p.R456S	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	466	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.R466S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTGATCCTCCCGTACC	0.488000													50	193					0	0	0.870114	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22868122	22868122	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:22868122C>T	ENST00000251822.6	+	7	2229	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	RHOBTB2_ENST00000519685.1_Silent_p.T586T|RHOBTB2_ENST00000522948.1_Silent_p.T571T|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	564	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.T564T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCATGTTCACCTCCAGCCCCG	0.587000													24	157					0	0	0.706142	0	0
TXNDC12	51060	broad.mit.edu	37	1	52486661	52486661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:52486661G>A	ENST00000371626.4	-	7	1537	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	0	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.Q155*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGCCTTTCCTGAGCTTCCTTC	0.383000													46	310					0	0	0.870114	0	0
WNK4	65266	broad.mit.edu	37	17	40940775	40940775	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:40940775A>C	ENST00000246914.5	+	11	2138	c.2117A>C	c.(2116-2118)gAt>gCt	p.D706A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	706					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.D706A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGATTTGATCTGGATGGG	0.517000													7	89					0	0	0.307466	0	0
TPH2	121278	broad.mit.edu	37	12	72416181	72416181	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:72416181C>G	ENST00000333850.3	+	9	1212	c.1071C>G	c.(1069-1071)tgC>tgG	p.C357W		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	357					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.C357W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTCTTCAGTGCTATTTCTTCA	0.413000													10	270					0	0	0.411799	0	0
CFH	3075	broad.mit.edu	37	1	196654266	196654266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:196654266A>C	ENST00000367429.4	+	7	1103	c.863A>C	c.(862-864)gAt>gCt	p.D288A	CFH_ENST00000359637.2_Missense_Mutation_p.D224A|CFH_ENST00000439155.2_Missense_Mutation_p.D288A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	288	Sushi 5.				complement activation, alternative pathway	extracellular space		p.D288A(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAACTGGAGATGAAATCACG	0.383000													16	774					0	0	0.520397	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:94731788C>T	ENST00000304338.3	+	21	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.P754P(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358000													19	161					0	0	0.639603	0	0
BICD1	636	broad.mit.edu	37	12	32260458	32260458	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:32260458G>C	ENST00000548411.1	+	1	374	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	BICD1_ENST00000281474.5_Missense_Mutation_p.E65Q|BICD1_ENST00000551086.1_Missense_Mutation_p.E65Q|RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000551848.1_Missense_Mutation_p.E65Q|BICD1_ENST00000550207.1_Missense_Mutation_p.E65Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	65					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.E65Q(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCTCAAACAGGAGCTGGAGCA	0.577000													2	7					0	0	0.150653	0	0
KIF4B	285643	broad.mit.edu	37	5	154394396	154394396	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:154394396C>T	ENST00000435029.4	+	1	1137	c.977C>T	c.(976-978)aCc>aTc	p.T326I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	326	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACATTAAGTACCCTTCGCTAT	0.413000													10	413					0	0	0.411799	0	0
SLC27A2	11001	broad.mit.edu	37	15	50494839	50494839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:50494839G>T	ENST00000267842.5	+	3	1076	c.844G>T	c.(844-846)Gct>Tct	p.A282S	SLC27A2_ENST00000544960.1_Missense_Mutation_p.A47S|SLC27A2_ENST00000380902.4_Intron	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	282					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.A282S(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGTATTGTGGCTGGTAAGCT	0.428000													22	439					5.61819e-17	7.85668e-17	0.693898	1	0
C2orf78	388960	broad.mit.edu	37	2	74043181	74043181	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:74043181C>A	ENST00000409561.1	+	3	1952	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	611	Lys-rich.							p.Q581K(2)|p.Q611K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAGAAAAATCAACCTGAGCT	0.438000													35	118					4.90274e-10	5.97678e-10	0.819951	1	0
ATP4A	495	broad.mit.edu	37	19	36044671	36044671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:36044671G>T	ENST00000262623.3	-	17	2570	c.2542C>A	c.(2542-2544)Cgc>Agc	p.R848S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.R848S(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTTGGGTTGCGTGGACGCAGG	0.607000													4	16					1.23904e-05	1.38907e-05	0.184627	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714185	70714185	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:70714185G>T	ENST00000530196.1	-	0	333					NR_003951.1																						CCAAACCGCAGACTATAGGAG	0.522000													4	43					0.00116845	0.00124003	0.217242	1	0
GDNF	2668	broad.mit.edu	37	5	37815930	37815930	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:37815930C>A	ENST00000326524.2	-	3	658	c.459G>T	c.(457-459)gaG>gaT	p.E153D	GDNF_ENST00000427982.1_Missense_Mutation_p.E170D|GDNF_ENST00000344622.4_Missense_Mutation_p.E127D|GDNF_ENST00000381826.4_Missense_Mutation_p.E144D|GDNF_ENST00000515058.1_Missense_Mutation_p.E127D	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	p.E170D(2)|p.E153D(2)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTACGTTGTCTCAGCTGCAT	0.443000													133	330					7.83929e-65	1.51156e-64	0.870114	1	0
ZNF236	7776	broad.mit.edu	37	18	74672732	74672732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:74672732C>G	ENST00000253159.8	+	30	5532	c.5334C>G	c.(5332-5334)taC>taG	p.Y1778*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Y1780*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1778					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y1778*(3)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCGGCCCTACAAGTGTGCCT	0.587000													4	95					0	0	0.184627	0	0
DNAH9	1770	broad.mit.edu	37	17	11726350	11726350	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:11726350A>T	ENST00000262442.3	+	48	9313	c.9246_splice	c.e48+1	p.Q3082_splice	DNAH9_ENST00000454412.2_Splice_Site_p.Q3082_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3082	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q3082L(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTCTGCCCAGGTGAGCAAT	0.542000													14	38					0	0	0.479597	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:17071902C>G	ENST00000359963.3	-	1	1798	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	513					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.Q513H(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTCACGAGCTGTAGCACCA	0.498000													41	77					0	0	0.870114	0	0
FCRLA	84824	broad.mit.edu	37	1	161680653	161680653	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:161680653G>A	ENST00000367959.2	+	3	494	c.252G>A	c.(250-252)caG>caA	p.Q84Q	FCRLA_ENST00000236938.6_Silent_p.Q78Q|FCRLA_ENST00000367950.1_Silent_p.Q38Q|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Silent_p.Q61Q|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Silent_p.Q67Q|FCRLA_ENST00000367949.2_Silent_p.Q78Q|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Silent_p.Q61Q|FCRLA_ENST00000546024.1_Silent_p.Q78Q|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Silent_p.Q67Q	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	61	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.Q84Q(2)|p.Q61Q(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTTCCAGGTCAAGGCCT	0.562000													40	123					0	0	0.847076	0	0
TRANK1	9881	broad.mit.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:36872739C>T	ENST00000301807.6	-	21	8450	c.6553G>A	c.(6553-6555)Ggc>Agc	p.G2185S	TRANK1_ENST00000428977.2_Missense_Mutation_p.G2185S|TRANK1_ENST00000429976.2_Missense_Mutation_p.G2735S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2735					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.G2185S(2)|p.G2178S(2)|p.G2735S(2)|p.G2735C(1)|p.G2185C(1)|p.G2178C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCTGGGCCACGGGTAAAC	0.592000													37	131					0	0	0.834066	0	0
CDH6	1004	broad.mit.edu	37	5	31297485	31297485	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:31297485C>G	ENST00000265071.2	+	4	878	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q150E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q205E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTACAGGGACAGCCCTATTT	0.373000													20	311					0	0	0.575678	0	0
ATP1B4	23439	broad.mit.edu	37	X	119512560	119512560	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:119512560A>G	ENST00000218008.3	+	7	901	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	ATP1B4_ENST00000361319.3_Missense_Mutation_p.I278V|ATP1B4_ENST00000539306.1_Missense_Mutation_p.I239V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	282					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.I278V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CATCCGATCCATCAGTTACTA	0.478000													107	184					0	0	0.870114	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432382	107432382	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:107432382A>G	ENST00000340010.5	-	4	459	c.275T>C	c.(274-276)tTa>tCa	p.L92S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L57S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAAATGCTAAACCTGTAAA	0.423000													10	213					0	0	0.335167	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455747	42455747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:42455747C>A	ENST00000262407.5	-	20	2108	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A693S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	693					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A693S(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTGCTTAGGGCCCGCATGTAG	0.647000													14	2					3.52763e-06	4.00071e-06	0.520397	1	0
TBX5	6910	broad.mit.edu	37	12	114804114	114804114	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:114804114C>T	ENST00000310346.4	-	8	1504	c.838G>A	c.(838-840)Gct>Act	p.A280T	TBX5_ENST00000526441.1_Missense_Mutation_p.A280T|TBX5_ENST00000405440.2_Missense_Mutation_p.A280T|TBX5_ENST00000349716.5_Missense_Mutation_p.A230T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	280					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A280T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGGAGAGAGCTCGAGACTCG	0.552000													21	224					0	0	0.624587	0	0
MMP10	4319	broad.mit.edu	37	11	102643716	102643716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:102643716C>A	ENST00000279441.4	-	8	1124	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	363	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R363I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCATTTCCTCTGATGGCCCA	0.368000													25	276					3.00307e-07	3.47928e-07	0.729181	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147259322	147259322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:147259322C>A	ENST00000361727.3	+	12	2386	c.1870C>A	c.(1870-1872)Cct>Act	p.P624T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	624	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P624T(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCTCTGGGGCCTCTGAAAGT	0.413000										HNSCC(39;0.1)			124	284					9.82225e-59	1.85072e-58	0.870114	1	0
OR6K3	391114	broad.mit.edu	37	1	158687393	158687393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:158687393G>T	ENST00000368146.1	-	1	560	c.561C>A	c.(559-561)ccC>ccA	p.P187P	OR6K3_ENST00000368145.1_Silent_p.P171P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P187P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGATTTGGTTGGGCCCACAGA	0.512000													185	489					3.16392e-82	6.25793e-82	0.870114	1	0
MUC17	140453	broad.mit.edu	37	7	100678604	100678604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:100678604G>T	ENST00000306151.4	+	3	3971	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1303	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V1303F(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACACTAA	0.458000													130	357					1.18812e-89	2.36305e-89	0.870114	1	0
NEB	4703	broad.mit.edu	37	2	152512820	152512820	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:152512820G>A	ENST00000397345.3	-	49	6544	c.6342C>T	c.(6340-6342)caC>caT	p.H2114H	NEB_ENST00000427231.2_Silent_p.H2114H|NEB_ENST00000604864.1_Silent_p.H2114H|NEB_ENST00000603639.1_Silent_p.H2114H|NEB_ENST00000172853.10_Silent_p.H2114H|NEB_ENST00000409198.1_Silent_p.H2114H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2114					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.H2114H(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGGCAGGGGTGTGGTAGCTGG	0.478000													95	290					0	0	0.870114	0	0
HDAC2	3066	broad.mit.edu	37	6	114270215	114270215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:114270215C>T	ENST00000519065.1	-	8	1145	c.769G>A	c.(769-771)Gct>Act	p.A257T	HDAC2_ENST00000398283.2_Missense_Mutation_p.A351T|HDAC2_ENST00000519108.1_Missense_Mutation_p.A227T|HDAC2_ENST00000368632.2_Missense_Mutation_p.A227T			Q92769	HDAC2_HUMAN	histone deacetylase 2	257	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.A257T(2)|p.A351T(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	AATACCACAGCACTAGGTTGA	0.378000													88	216					0	0	0.870114	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157231	12157231	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:12157231G>T	ENST00000263932.2	+	3	447	c.225G>T	c.(223-225)ctG>ctT	p.L75L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	75					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.L75L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACTACCTGGATGAGGCCG	0.577000													46	111					6.23363e-37	1.061e-36	0.870114	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125850370	125850370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:125850370C>A	ENST00000393434.2	-	13	1829	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D494Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D504Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D393Y|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	494	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.D494Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCATGAGATCTGCCAACCTG	0.647000													17	51					1.00905e-13	1.32484e-13	0.575678	1	0
EPYC	1833	broad.mit.edu	37	12	91358003	91358003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:91358003G>T	ENST00000261172.3	-	7	991	c.899C>A	c.(898-900)cCt>cAt	p.P300H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	300					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.P300H(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GAGATTAATAGGGTTTCCATC	0.393000													41	59					3.70713e-34	6.192e-34	0.870114	1	0
STARD7	56910	broad.mit.edu	37	2	96858109	96858109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:96858109C>G	ENST00000337288.5	-	6	1224	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	281	START.					mitochondrion		p.E281Q(2)|p.E206Q(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AAACTCACCTCATCAAATGAC	0.493000													78	241					0	0	0.870114	0	0
BDP1	55814	broad.mit.edu	37	5	70797393	70797393	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:70797393A>T	ENST00000380675.2	+	0	2224				BDP1_ENST00000358731.4_Missense_Mutation_p.H654L			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.H654L(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCACAGAACCACGTGGAAAAA	0.343000													27	117					0	0	0.760397	0	0
OR2G3	81469	broad.mit.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247769640C>A	ENST00000320002.2	+	1	785	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F251L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGATTATATTCTATGGCACCA	0.488000													30	157					9.21846e-06	1.04108e-05	0.769981	1	0
PDE6C	5146	broad.mit.edu	37	10	95425130	95425130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:95425130A>T	ENST00000371447.3	+	22	2670	c.2532A>T	c.(2530-2532)tcA>tcT	p.S844S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	844					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S844S(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTGAAGATTCAGGAGGTGGTG	0.318000													58	163					0	0	0.870114	0	0
TGFBR3	7049	broad.mit.edu	37	1	92174229	92174229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:92174229C>A	ENST00000212355.4	-	14	2743	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E759*|TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E760*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	760					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E760*(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTTTAGATTCTGCTTCATGG	0.493000													56	237					1.73933e-33	2.88278e-33	0.870114	1	0
NDRG2	57447	broad.mit.edu	37	14	21486634	21486634	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:21486634G>T	ENST00000556147.1	-	13	1783	c.843C>A	c.(841-843)acC>acA	p.T281T	NDRG2_ENST00000350792.3_Silent_p.T267T|NDRG2_ENST00000298687.5_Silent_p.T281T|NDRG2_ENST00000397847.2_Silent_p.T270T|NDRG2_ENST00000397853.3_Silent_p.T281T|NDRG2_ENST00000554104.1_Silent_p.T194T|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397851.2_Silent_p.T281T|NDRG2_ENST00000397858.1_Silent_p.T281T|NDRG2_ENST00000360463.3_Silent_p.T267T|NDRG2_ENST00000553503.1_Silent_p.T267T|NDRG2_ENST00000397855.3_Silent_p.T238T|NDRG2_ENST00000555158.1_Silent_p.T267T|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000403829.3_Silent_p.T277T|NDRG2_ENST00000298684.5_Silent_p.T238T|NDRG2_ENST00000554143.1_Silent_p.T267T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	281					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		p.T281T(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACGAGGTCTGGGTGGGGTCCA	0.582000													14	33					9.16793e-09	1.09161e-08	0.520397	1	0
CROT	54677	broad.mit.edu	37	7	87011391	87011391	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:87011391G>T	ENST00000331536.3	+	12	1249	c.1062_splice	c.e12-1	p.G355_splice	CROT_ENST00000442291.1_Splice_Site_p.G355_splice|CROT_ENST00000419147.2_Splice_Site_p.G383_splice	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	355					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.G355V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TATTTTCAGGGTTCAGAGAAG	0.333000													88	170					3.59239e-61	6.86517e-61	0.870114	1	0
ELF2	1998	broad.mit.edu	37	4	139980627	139980627	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:139980627G>C	ENST00000394235.2	-	10	1758	c.1256C>G	c.(1255-1257)cCa>cGa	p.P419R	ELF2_ENST00000265495.4_Missense_Mutation_p.P419R|ELF2_ENST00000358635.3_Missense_Mutation_p.P371R|ELF2_ENST00000379549.2_Missense_Mutation_p.P342R|ELF2_ENST00000510408.1_Missense_Mutation_p.P359R|ELF2_ENST00000379550.1_Missense_Mutation_p.P431R|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	431					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P419R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GACTACCTTTGGAGAGGTCGC	0.438000													9	326					0	0	0.335167	0	0
PROM2	150696	broad.mit.edu	37	2	95945675	95945675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:95945675G>T	ENST00000317620.9	+	11	1490	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	PROM2_ENST00000403131.2_Missense_Mutation_p.G453C|PROM2_ENST00000542147.1_Missense_Mutation_p.G453C|PROM2_ENST00000317668.4_Missense_Mutation_p.G453C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	453						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G453C(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGCATCTGGGGCCTGTCTGC	0.642000													3	26					0.004672	0.00487631	0.115264	1	0
KDM3A	55818	broad.mit.edu	37	2	86678331	86678331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:86678331A>G	ENST00000409556.1	+	5	813	c.448A>G	c.(448-450)Ata>Gta	p.I150V	KDM3A_ENST00000312912.5_Missense_Mutation_p.I150V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I150V|KDM3A_ENST00000542128.1_Missense_Mutation_p.I98V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	150					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.I150V(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTTGAAGCCTATACAGGTAAA	0.363000													7	53					0	0	0.278610	0	0
IRF3	3661	broad.mit.edu	37	19	50163052	50163052	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:50163052G>C	ENST00000600911.1	-	6	1413	c.1021C>G	c.(1021-1023)Ccg>Gcg	p.P341A	IRF3_ENST00000309877.7_Silent_p.A379A|IRF3_ENST00000601291.1_Missense_Mutation_p.P385A|IRF3_ENST00000598808.1_Silent_p.A233A|IRF3_ENST00000599223.1_Silent_p.A252A|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000596822.1_Missense_Mutation_p.P68A|IRF3_ENST00000597198.1_Silent_p.A379A|IRF3_ENST00000377135.4_Silent_p.A252A|IRF3_ENST00000600022.1_Silent_p.A106A|IRF3_ENST00000599144.1_Silent_p.A233A|IRF3_ENST00000377139.3_Silent_p.A379A|IRF3_ENST00000593922.1_Silent_p.A233A|IRF3_ENST00000596765.1_Silent_p.A106A			Q14653	IRF3_HUMAN	interferon regulatory factor 3	0	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A379A(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCCTACCCGGGCCATTTCTA	0.607000													3	23					0	0	0.150653	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044273	90044273	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:90044273C>A	ENST00000462693.1	+	0	224																											CAGCAGAGGCCAGGCCAGCCT	0.537000													51	319					2.02796e-37	3.4682e-37	0.870114	1	0
TGM7	116179	broad.mit.edu	37	15	43585794	43585794	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:43585794T>A	ENST00000452443.2	-	2	50	c.46A>T	c.(46-48)Agc>Tgc	p.S16C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	16					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S16C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCTGGAGCTCTGCAGGTCG	0.652000													3	12					0	0	0.115264	0	0
HMCN1	83872	broad.mit.edu	37	1	185892747	185892747	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:185892747A>G	ENST00000271588.4	+	8	1476	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q416R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	416					response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q416R(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACCTCTTCCAGAGAGTATCA	0.358000													37	95					0	0	0.834066	0	0
CADPS	8618	broad.mit.edu	37	3	62751567	62751567	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:62751567G>T	ENST00000383710.4	-	2	883	c.534C>A	c.(532-534)aaC>aaA	p.N178K	CADPS_ENST00000283269.9_Missense_Mutation_p.N178K|CADPS_ENST00000357948.3_Missense_Mutation_p.N178K|CADPS_ENST00000490353.2_Missense_Mutation_p.N178K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	178					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.N178K(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCTGCACAGCGTTCATGAAGG	0.517000													71	335					2.13026e-44	3.8005e-44	0.870114	1	0
TAS1R1	80835	broad.mit.edu	37	1	6639557	6639557	+	Nonsense_Mutation	SNP	C	C	A	rs145637880	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:6639557C>A	ENST00000333172.6	+	6	2632	c.2439C>A	c.(2437-2439)taC>taA	p.Y813*	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Y559*	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	813					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.Y813*(2)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTAAGTGCTACGTGATCCTCT	0.617000													5	28					0.014758	0.0152258	0.184627	1	0
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:98802742C>T	ENST00000266058.4	-	20	2325	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G694R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	694	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.G694R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612000													17	39					0	0	0.520397	0	0
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547000													12	60					6.31663e-08	7.36597e-08	0.479597	1	0
ADCY6	112	broad.mit.edu	37	12	49170251	49170251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:49170251C>A	ENST00000307885.4	-	6	2189	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	ADCY6_ENST00000550422.1_Missense_Mutation_p.V499L|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.V499L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	499					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.V499L(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAGGGTCACATCATTGGAC	0.647000													16	40					0.000566183	0.000612367	0.520397	1	0
RASSF1	11186	broad.mit.edu	37	3	50368057	50368057	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:50368057G>A	ENST00000359365.4	-	6	1084	c.978C>T	c.(976-978)tgC>tgT	p.C326C	RASSF1_ENST00000395126.3_Silent_p.C175C|RASSF1_ENST00000357043.2_Silent_p.C330C|RASSF1_ENST00000327761.3_Silent_p.C256C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	330	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	p.C256C(2)|p.C330C(2)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTTCTGGCGGCAATAGGAGT	0.612000													12	22					0	0	0.520397	0	0
PRDM5	11107	broad.mit.edu	37	4	121631535	121631535	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:121631535C>T	ENST00000264808.3	-	15	1897	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.A522T|PRDM5_ENST00000515109.1_Missense_Mutation_p.G493D	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	553					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.A553T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGAAGGCCTTGCTGCAC	0.483000													60	208					0	0	0.870114	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574545	11574545	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:11574545G>A	ENST00000294484.6	+	4	1553	c.1415G>A	c.(1414-1416)tGc>tAc	p.C472Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C472Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	472	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.C689Y(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCAGCAGCTGCATTGCTGCC	0.582000													4	81					0	0	0.150653	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214101	11214101	+	Missense_Mutation	SNP	C	C	T	rs147671448	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:11214101C>T	ENST00000533467.1	-	1	792	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	265					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	p.E265K(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAATAGCTTCGCAGAACATG	0.418000													17	663					0	0	0.575678	0	0
TEX13B	56156	broad.mit.edu	37	X	107225113	107225113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:107225113T>A	ENST00000302917.1	-	2	337	c.245A>T	c.(244-246)cAg>cTg	p.Q82L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	82								p.Q82L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TAACTGCCCCTGCCTGTGGGC	0.617000													48	71					0	0	0.870114	0	0
STARD13	90627	broad.mit.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000255486.4_Missense_Mutation_p.R272L|STARD13_ENST00000399365.3_Missense_Mutation_p.R162L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542000													17	189					7.07596e-05	7.79444e-05	0.539581	1	0
MYO1D	4642	broad.mit.edu	37	17	31105502	31105502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:31105502C>A	ENST00000318217.5	-	3	698	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	MYO1D_ENST00000579584.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000583621.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000394649.4_Nonsense_Mutation_p.E44*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	132	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.E132*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTTACCTTTCAACCTCTGCT	0.478000													44	111					3.28156e-27	5.17532e-27	0.870114	1	0
BEND2	139105	broad.mit.edu	37	X	18209221	18209221	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:18209221G>T	ENST00000380033.4	-	8	1320	c.1188C>A	c.(1186-1188)ggC>ggA	p.G396G	BEND2_ENST00000380030.3_Silent_p.G305G	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	396								p.G396G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCATTTGTGGGCCAGATTCTG	0.378000													82	131					3.47606e-37	5.93527e-37	0.870114	1	0
COL5A1	1289	broad.mit.edu	37	9	137658860	137658860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:137658860G>T	ENST00000371817.3	+	23	2562	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	716	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E716D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGGAGAGCCTGGCCCCC	0.652000													3	4					0.004672	0.00487631	0.115264	1	0
MEPE	56955	broad.mit.edu	37	4	88767161	88767161	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:88767161G>C	ENST00000497649.2	+	6	1447	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	MEPE_ENST00000424957.3_Missense_Mutation_p.E381Q|MEPE_ENST00000395102.4_Missense_Mutation_p.E412Q|MEPE_ENST00000560249.1_Missense_Mutation_p.E268Q|MEPE_ENST00000540395.1_Missense_Mutation_p.E268Q|MEPE_ENST00000361056.3_Missense_Mutation_p.E381Q|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	381					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.E381Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACCCTCAAAAGAGAAAAGAAA	0.443000													17	93					0	0	0.539581	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506336	178506336	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:178506336A>T	ENST00000315475.6	+	5	1209	c.903A>T	c.(901-903)cgA>cgT	p.R301R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301R(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCGTATCGATGTAGGGAAT	0.418000													27	245					0	0	0.729181	0	0
VPS35	55737	broad.mit.edu	37	16	46715307	46715307	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:46715307C>G	ENST00000299138.7	-	4	363	c.305G>C	c.(304-306)gGa>gCa	p.G102A		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	102					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.G102A(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATAATGTTTCCAGCATACTG	0.378000													31	140					0	0	0.804634	0	0
FHL5	9457	broad.mit.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:97063550G>T	ENST00000326771.2	+	7	1137	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	FHL5_ENST00000541107.1_Missense_Mutation_p.G253W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	253	LIM zinc-binding 4.					nucleus	zinc ion binding	p.G253W(2)|p.G253R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTTTAACTGCGGGAAATGCTC	0.458000													39	96					7.70917e-36	1.29979e-35	0.870114	1	0
SEPT14	346288	broad.mit.edu	37	7	55929665	55929665	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:55929665G>T	ENST00000388975.3	-	2	141	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	9					cell cycle|cell division	septin complex	GTP binding|protein binding	p.P9T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGTGTGGGCATAGCCATT	0.284000													3	29					0.00024832	0.000270208	0.150653	1	0
SH3GL3	6457	broad.mit.edu	37	15	84237394	84237394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:84237394G>T	ENST00000324537.5	+	7	817	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	SH3GL3_ENST00000427482.2_Missense_Mutation_p.G101W|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G101W|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G109W			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	101	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G109W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTGAAATACGGGAAGGAGCT	0.527000													41	103					3.39706e-21	5.0254e-21	0.870114	1	0
ZNF680	340252	broad.mit.edu	37	7	63982636	63982636	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:63982636A>G	ENST00000309683.6	-	4	647	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F166L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAATTTGAAAATTTATGAAAG	0.299000													5	71					0	0	0.184627	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175884	40175884	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:40175884C>T	ENST00000307641.5	+	4	1170	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NKIRAS2_ENST00000316082.4_Silent_p.N221N|NKIRAS2_ENST00000449471.4_Silent_p.N127N|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393880.1_Silent_p.N183N|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393885.4_Silent_p.N183N|NKIRAS2_ENST00000393884.2_Silent_p.N181N|NKIRAS2_ENST00000393881.3_Silent_p.N183N	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	183	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	p.N183N(2)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCCGGAAGAACAAGGGCAGCG	0.607000													12	27					0	0	0.500413	0	0
SCN1A	6323	broad.mit.edu	37	2	166896013	166896013	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:166896013C>A	ENST00000423058.2	-	14	2526	c.2509G>T	c.(2509-2511)Ggt>Tgt	p.G837C	SCN1A_ENST00000409050.1_Missense_Mutation_p.G809C|SCN1A_ENST00000303395.4_Missense_Mutation_p.G837C|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G826C|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	837						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G837C(2)|p.G826C(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAATAAAACCGTCAAAGATA	0.363000													19	88					7.41877e-09	8.87279e-09	0.608945	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791250	50791250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:50791250C>A	ENST00000263046.4	+	3	405	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P71Q|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	71	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P71Q(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCCTACTTCCCACCCCCCTAC	0.682000													6	8					0.0381472	0.038908	0.278610	1	0
PTPRD	5789	broad.mit.edu	37	9	8460541	8460541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:8460541G>T	ENST00000381196.4	-	30	4288	c.3745C>A	c.(3745-3747)Ccc>Acc	p.P1249T	PTPRD_ENST00000356435.5_Missense_Mutation_p.P1249T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P838T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P828T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P835T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P828T|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1249T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1236T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P835T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1227T|PTPRD_ENST00000486161.1_Missense_Mutation_p.P838T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1249T(4)|p.P720T(2)|p.P838T(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACACCACGGGGTCGGAGTAA	0.433000										TSP Lung(15;0.13)			37	389					1.47197e-15	1.99356e-15	0.834066	1	0
SOX14	8403	broad.mit.edu	37	3	137483858	137483858	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:137483858C>A	ENST00000306087.1	+	1	280	c.232C>A	c.(232-234)Cga>Aga	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.R78R(2)		large_intestine(2)|lung(12)	14						CTACAAGTACCGACCTCGGCG	0.612000													11	88					6.53275e-17	9.12377e-17	0.457914	1	0
LELP1	149018	broad.mit.edu	37	1	153177368	153177368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:153177368C>A	ENST00000368747.1	+	2	295	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	62	Cys/Pro-rich.							p.P62H(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTGCCCCTCGCAGTCT	0.592000													17	237					1.48734e-19	2.15283e-19	0.864702	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160273941	160273941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:160273941G>T	ENST00000264431.4	+	21	3906	c.3487G>T	c.(3487-3489)Gtg>Ttg	p.V1163L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1163	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.V1151L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTTGACTCAGTGCCAGTCTC	0.478000													33	149					2.48696e-23	3.78327e-23	0.779181	1	0
PHACTR3	116154	broad.mit.edu	37	20	58348406	58348406	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:58348406C>T	ENST00000371015.1	+	6	1291	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PHACTR3_ENST00000541461.1_Missense_Mutation_p.P234L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P272L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P234L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P234L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P164L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	275						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P275L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCTCCACACCCACGGGGTCT	0.662000													4	45					0	0	0.307466	0	0
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368000													6	160					0	0	0.361761	0	0
USH2A	7399	broad.mit.edu	37	1	216051129	216051129	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:216051129C>T	ENST00000366943.2	-	43	9038	c.8652G>A	c.(8650-8652)caG>caA	p.Q2884Q	USH2A_ENST00000307340.3_Silent_p.Q2884Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2884	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q2884Q(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATAAAGCCACTGAGTTCCTG	0.383000										HNSCC(13;0.011)			131	390					0	0	0.870114	0	0
MEP1A	4224	broad.mit.edu	37	6	46806811	46806811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:46806811G>T	ENST00000230588.4	+	14	2188	c.2179G>T	c.(2179-2181)Gct>Tct	p.A727S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	727					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A727S(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGAGGCACGGCTGGCGTGAT	0.602000													48	178					1.11015e-26	1.74568e-26	0.870114	1	0
OR3A3	8392	broad.mit.edu	37	17	3324705	3324705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:3324705G>T	ENST00000291231.1	+	1	844	c.844G>T	c.(844-846)Ggg>Tgg	p.G282W		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G282W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAAGGATAAGGGGGTTGGGGT	0.507000													114	252					6.85551e-66	1.32425e-65	0.870114	1	0
BBS9	27241	broad.mit.edu	37	7	33545221	33545221	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:33545221G>A	ENST00000242067.6	+	20	2783	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	BBS9_ENST00000350941.3_Silent_p.A714A|BBS9_ENST00000396127.2_Silent_p.A719A|BBS9_ENST00000355070.2_Silent_p.A749A|BBS9_ENST00000354265.4_Silent_p.A719A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	754					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.A754A(4)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGGAAGCGGCATTTCTGC	0.498000									Bardet-Biedl syndrome				15	141					0	0	0.539581	0	0
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248059311C>G	ENST00000537741.1	+	3	680	c.423C>G	c.(421-423)tgC>tgG	p.C141W	OR2W3_ENST00000360358.3_Missense_Mutation_p.C141W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141W(2)|p.C141*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGCTCTGCCGGGGCTTGG	0.627000													27	104					0	0	0.681144	0	0
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:25835674G>T	ENST00000280701.3	+	3	1168	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	OXSM_ENST00000420173.2_Missense_Mutation_p.A274S	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453000													33	96					4.14481e-20	6.03188e-20	0.819951	1	0
FAM135B	51059	broad.mit.edu	37	8	139209901	139209901	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:139209901G>A	ENST00000395297.1	-	8	851	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	227								p.Y227Y(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGAGGTGATGTAGAAGCTTC	0.582000										HNSCC(54;0.14)			32	168					0	0	0.788014	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961521	51961521	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51961521G>T	ENST00000321424.3	-	1	187	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L41M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L41M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	41	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L41M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACACACAGGCCCTCCTGC	0.597000													37	136					2.24893e-16	3.10856e-16	0.847076	1	0
OR6C6	283365	broad.mit.edu	37	12	55688351	55688351	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:55688351G>T	ENST00000358433.2	-	1	665	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T222T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTTCAGAATGGTCTTAATAA	0.398000													8	391					1.12685e-05	1.26462e-05	0.307466	1	0
SMOC1	64093	broad.mit.edu	37	14	70490078	70490078	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:70490078G>T	ENST00000381280.4	+	11	1458	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	SMOC1_ENST00000361956.3_Missense_Mutation_p.R402L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	402	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R402L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAATGTGCCCGGCGTTTCACC	0.527000													95	328					1.14165e-66	2.20925e-66	0.870114	1	0
MIR521-2	574481	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:54219926C>A	ENST00000384818.1	+	0	79					NR_030203.1																						AGAGTGTTACCGTGTGAGAAA	0.428000													27	52					1.7881e-09	2.15535e-09	0.729181	1	0
TEX2	55852	broad.mit.edu	37	17	62272302	62272302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:62272302C>A	ENST00000258991.3	-	3	1882	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	TEX2_ENST00000583097.1_Nonsense_Mutation_p.E600*|TEX2_ENST00000584379.1_Nonsense_Mutation_p.E600*			Q8IWB9	TEX2_HUMAN	testis expressed 2	600					signal transduction|sphingolipid metabolic process	integral to membrane		p.E600*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAGGTGACCTCTGGCTTGGGT	0.443000													42	114					1.56989e-16	2.17838e-16	0.870114	1	0
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:71114727G>C	ENST00000304954.3	+	4	186	c.100G>C	c.(100-102)Gat>Cat	p.D34H		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	34						extracellular region	protein binding	p.D34H(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATGAGAATGATGAAAGACC	0.308000													31	157					0	0	0.779181	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816575	80816575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:80816575G>T	ENST00000466387.1	+	19	2878	c.2154G>T	c.(2152-2154)atG>atT	p.M718I	CTNNA2_ENST00000496558.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M397I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M752I|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M718I|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M718I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	718					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.M718I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAAGCAGATGTGTATGATCA	0.458000													106	408					3.6033e-41	6.28238e-41	0.870114	1	0
RGS22	26166	broad.mit.edu	37	8	101051202	101051202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:101051202T>C	ENST00000360863.6	-	14	2317	c.2123A>G	c.(2122-2124)tAc>tGc	p.Y708C	RGS22_ENST00000523437.1_Missense_Mutation_p.Y696C|RGS22_ENST00000523287.1_Missense_Mutation_p.Y527C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	708					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.Y708C(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTTTCTTGGTAGAAAAGCTG	0.358000													26	194					0	0	0.729181	0	0
LONRF3	79836	broad.mit.edu	37	X	118147138	118147138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:118147138G>T	ENST00000365713.2	+	8	1988	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	LONRF3_ENST00000304778.7_Missense_Mutation_p.D609Y|LONRF3_ENST00000422289.2_Missense_Mutation_p.D394Y|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.D650Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	650	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D609Y(2)|p.D650Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAACACAGCCGACATTGAATA	0.488000													25	46					1.55811e-20	2.29234e-20	0.729181	1	0
FOXD4L1	200350	broad.mit.edu	37	2	114257955	114257955	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:114257955A>T	ENST00000306507.5	+	1	1295	c.1122A>T	c.(1120-1122)ggA>ggT	p.G374G		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	374					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G374G(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATCAGGAGGAGGACTGCGCC	0.687000													4	49					0	0	0.150653	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974501	129974501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:129974501G>T	ENST00000259351.5	+	15	1606	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	RALGPS1_ENST00000424082.2_Missense_Mutation_p.G405W|RALGPS1_ENST00000373434.1_Missense_Mutation_p.G405W	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	447	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G447W(2)|p.G405W(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAAGGAAGGGCGGAAGCC	0.592000													3	28					0.115264	0.116457	0.115264	1	0
NDST3	9348	broad.mit.edu	37	4	119158234	119158234	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:119158234C>A	ENST00000296499.5	+	10	2380	c.1977C>A	c.(1975-1977)gtC>gtA	p.V659V	NDST3_ENST00000433996.2_3'UTR	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	659	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.V659V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATCTAATGTCACTACCGACT	0.393000													11	70					0.411799	0.4145	0.411799	1	0
RANGAP1	5905	broad.mit.edu	37	22	41657531	41657531	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:41657531C>A	ENST00000455915.2	-	5	2003	c.534G>T	c.(532-534)aaG>aaT	p.K178N	RANGAP1_ENST00000356244.3_Missense_Mutation_p.K178N|RANGAP1_ENST00000405486.1_Missense_Mutation_p.K178N|RANGAP1_ENST00000407260.4_Intron			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.K178N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCAGAGGCTTGCCTTGGG	0.582000													9	24					0.00244969	0.00258699	0.457914	1	0
BMP7	655	broad.mit.edu	37	20	55748235	55748235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:55748235C>A	ENST00000450594.2	-	6	1673	c.1167G>T	c.(1165-1167)tgG>tgT	p.W389C	BMP7_ENST00000460817.1_Intron|BMP7_ENST00000395863.3_Intron|BMP7_ENST00000395864.3_Intron			P18075	BMP7_HUMAN	bone morphogenetic protein 7	247					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TGACCACACCCCAAGATGGCG	0.617000													14	56					1.00905e-13	1.32484e-13	0.575678	1	0
COBL	23242	broad.mit.edu	37	7	51111277	51111277	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:51111277C>A	ENST00000395542.2	-	10	1639	c.1455G>T	c.(1453-1455)acG>acT	p.T485T	COBL_ENST00000265136.7_Silent_p.T403T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	403								p.T403T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGTCCTCGGTCGTGTCCTCCG	0.607000													51	95					2.41709e-19	3.48919e-19	0.870114	1	0
ERN2	10595	broad.mit.edu	37	16	23713521	23713521	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:23713521T>C	ENST00000256797.4	-	11	1467	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	ERN2_ENST00000457008.2_Silent_p.A385A	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	385					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.A433A(2)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTCTTGTCTCTGCAGTTCCAC	0.622000													8	70					0	0	0.278610	0	0
AADACL2	344752	broad.mit.edu	37	3	151474962	151474962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:151474962G>A	ENST00000356517.3	+	5	895	c.786G>A	c.(784-786)tgG>tgA	p.W262*	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	262						extracellular region|integral to membrane	carboxylesterase activity	p.W262*(2)|p.W240*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTTCCCTGGGCAATGAGAA	0.413000													117	295					0	0	0.870114	0	0
GPR63	81491	broad.mit.edu	37	6	97247592	97247592	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:97247592C>A	ENST00000229955.3	-	2	361	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	GPR63_ENST00000417980.1_Missense_Mutation_p.V6L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	6						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V6L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCAGTCAACACTGCCGAGAAG	0.463000													112	366					1.46217e-58	2.7502e-58	0.870114	1	0
NID1	4811	broad.mit.edu	37	1	236195859	236195859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:236195859G>T	ENST00000264187.6	-	6	1461	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NID1_ENST00000366595.3_Missense_Mutation_p.S460Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	460	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S460Y(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TACTACGTAAGAGTGGAGGTC	0.552000													27	63					1.13719e-10	1.40384e-10	0.729181	1	0
DAB2	1601	broad.mit.edu	37	5	39376907	39376907	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:39376907C>A	ENST00000545653.1	-	11	2449	c.1919G>T	c.(1918-1920)cGg>cTg	p.R640L	DAB2_ENST00000320816.6_Missense_Mutation_p.R661L|DAB2_ENST00000339788.6_Missense_Mutation_p.R443L|DAB2_ENST00000509337.1_Missense_Mutation_p.R640L	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	661					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.R661L(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGGTGGCTGCCGCAGTTGGAA	0.512000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	65					0.014758	0.0152258	0.184627	1	0
ZBED4	9889	broad.mit.edu	37	22	50277734	50277734	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:50277734G>A	ENST00000216268.4	+	2	901	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	142						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.E142K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGAAGGAGTTCAGCAG	0.507000													31	69					0	0	0.788014	0	0
KIAA1468	57614	broad.mit.edu	37	18	59942667	59942667	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:59942667T>A	ENST00000256858.6	+	23	3278	c.3030T>A	c.(3028-3030)acT>acA	p.T1010T	KIAA1468_ENST00000398130.2_Silent_p.T976T			Q9P260	K1468_HUMAN	KIAA1468	976							binding	p.T976T(2)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGTCCATACTTCAGCACTCG	0.363000													39	102					0	0	0.870114	0	0
CAMK4	814	broad.mit.edu	37	5	110730473	110730473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:110730473C>A	ENST00000282356.4	+	5	850	c.452C>A	c.(451-453)gCa>gAa	p.A151E	CAMK4_ENST00000512453.1_Missense_Mutation_p.A151E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	151	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A151E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCCTGGAGGCAGTTGCTGTA	0.408000													77	265					1.49072e-33	2.47456e-33	0.870114	1	0
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:88057031C>A	ENST00000504921.2	-	4	1045	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000514015.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000437473.2_Missense_Mutation_p.D125Y|MEF2C_ENST00000503554.1_5'UTR			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453000										HNSCC(66;0.2)			53	326					4.60343e-24	7.08321e-24	0.870114	1	0
PTPRF	5792	broad.mit.edu	37	1	44084819	44084819	+	Missense_Mutation	SNP	G	G	A	rs70937045		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:44084819G>A	ENST00000359947.4	+	27	4932	c.4592G>A	c.(4591-4593)cGa>cAa	p.R1531Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R890Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1522Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1531Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1522Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1531	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R1521Q(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTCCTACGACGGGTCAAG	0.627000													7	29					0	0	0.248553	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814424	106814424	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:106814424A>G	ENST00000407775.2	+	8	2364	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	ZFPM2_ENST00000517361.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H436R|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	705					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.H705R(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACATGGTCCACAAACAGTAT	0.517000													45	74					0	0	0.870114	0	0
USP8	9101	broad.mit.edu	37	15	50741619	50741619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:50741619G>T	ENST00000433963.1	+	5	772	c.272G>T	c.(271-273)gGa>gTa	p.G91V	USP8_ENST00000396444.3_Missense_Mutation_p.G91V|USP8_ENST00000307179.4_Missense_Mutation_p.G91V|USP8_ENST00000425032.3_Intron	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	91	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G91V(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCAATACTTGGACCTGGAAAC	0.303000													8	38					2.61681e-11	3.27942e-11	0.457914	1	0
VSIG4	11326	broad.mit.edu	37	X	65252542	65252542	+	Silent	SNP	C	C	T	rs147948024	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:65252542C>T	ENST00000455586.2	-	3	588	c.462G>A	c.(460-462)acG>acA	p.T154T	VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Silent_p.T154T	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	154	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding	p.T154T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGGGGCACCGTGAAGCCAT	0.498000													9	74					0	0	0.335167	0	0
STXBP4	252983	broad.mit.edu	37	17	53068212	53068212	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:53068212T>C	ENST00000376352.2	+	4	281	c.74T>C	c.(73-75)aTt>aCt	p.I25T	STXBP4_ENST00000398391.2_Intron|STXBP4_ENST00000405898.1_Missense_Mutation_p.I25T|STXBP4_ENST00000434978.2_Missense_Mutation_p.I25T|STXBP4_ENST00000299341.4_5'UTR	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	25	PDZ.					cytoplasm	calcium ion binding	p.I25T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATGATTACAATTGCCAAGGAA	0.393000													17	313					0	0	0.592651	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945446	48945446	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:48945446T>A	ENST00000263269.3	+	12	2568	c.2480T>A	c.(2479-2481)aTc>aAc	p.I827N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	827						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.I827N(2)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTCTCTGGGATCTGCCACAAT	0.567000													17	55					0	0	0.575678	0	0
OTOF	9381	broad.mit.edu	37	2	26696880	26696880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:26696880C>A	ENST00000272371.2	-	27	3513	c.3387G>T	c.(3385-3387)gtG>gtT	p.V1129V	OTOF_ENST00000338581.6_Silent_p.V382V|OTOF_ENST00000339598.3_Silent_p.V382V|OTOF_ENST00000403946.3_Silent_p.V1129V|OTOF_ENST00000402415.3_Silent_p.V439V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1129					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.V439V(2)|p.V1129V(2)|p.V382V(2)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGCTGAGCACGGGCCGGA	0.642000													2	5					0.115264	0.116457	0.115264	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854254	178854254	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:178854254G>C	ENST00000367635.3	+	12	1286	c.948G>C	c.(946-948)gtG>gtC	p.V316V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Silent_p.V281V|RALGPS2_ENST00000367634.2_Silent_p.V316V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	316					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAAAAGTGTGGCAGCTGAAG	0.448000													34	64					0	0	0.853193	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172847	207172847	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:207172847G>A	ENST00000374423.3	+	5	3981	c.3595G>A	c.(3595-3597)Gta>Ata	p.V1199I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1199							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGGTTCTGAAGTAAGTTTTGA	0.418000													5	174					0	0	0.278610	0	0
ESR2	2100	broad.mit.edu	37	14	64699947	64699947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:64699947G>A	ENST00000341099.4	-	9	1918	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ESR2_ENST00000353772.3_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.R410C|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000358599.5_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	501	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R501C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTGCACCCGCGAAGCACGTGG	0.562000													10	393					0	0	0.387290	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136969	108136969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:108136969G>T	ENST00000374720.3	+	13	1832	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	SLC44A1_ENST00000374724.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000374723.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V321L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	529						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.V529L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTTTGCGAGTGGCTACCAT	0.393000													109	310					7.82945e-61	1.49093e-60	0.870114	1	0
GABRB1	2560	broad.mit.edu	37	4	47427876	47427876	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:47427876G>T	ENST00000295454.3	+	9	1558	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	GABRB1_ENST00000538619.1_Silent_p.G352G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	422					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G422G(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCGGCACGGGGTACCCAGCA	0.627000													12	65					2.61681e-11	3.27942e-11	0.457914	1	0
POLQ	10721	broad.mit.edu	37	3	121209249	121209249	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:121209249C>A	ENST00000264233.5	-	16	2657	c.2529G>T	c.(2527-2529)cgG>cgT	p.R843R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	843					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R978R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCACTGCCTTCCGGGCACTAC	0.443000								DNA polymerases (catalytic subunits)					65	261					2.73218e-42	4.80256e-42	0.870114	1	0
CSMD1	64478	broad.mit.edu	37	8	2967787	2967787	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:2967787C>A	ENST00000602557.1	-	44	7059	c.6504G>T	c.(6502-6504)ccG>ccT	p.P2168P	CSMD1_ENST00000602723.1_Silent_p.P2168P|CSMD1_ENST00000542608.1_Silent_p.P2167P|CSMD1_ENST00000520002.1_Silent_p.P2168P|CSMD1_ENST00000537824.1_Silent_p.P2167P|CSMD1_ENST00000400186.3_Silent_p.P2168P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2168	CUB 13.					integral to membrane		p.P2167P(2)|p.P1896P(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCAGGATCGGATACTCAT	0.502000													8	23					3.07112e-06	3.49035e-06	0.387290	1	0
C22orf42	150297	broad.mit.edu	37	22	32550243	32550243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:32550243G>T	ENST00000382097.3	-	2	367	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	99								p.L99I(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATATTTTCTAGAGGCCAAATC	0.378000													23	76					3.93418e-24	6.06214e-24	0.796494	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951975	119951975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:119951975G>T	ENST00000307142.4	+	4	2241	c.2045G>T	c.(2044-2046)gGa>gTa	p.G682V	SYNPO2_ENST00000434046.2_Missense_Mutation_p.G682V|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G682V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	682						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.G682V(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAAGAACAGGAATATTGCAG	0.498000													9	113					7.48243e-07	8.60399e-07	0.335167	1	0
CNGB3	54714	broad.mit.edu	37	8	87645122	87645122	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:87645122C>A	ENST00000320005.5	-	11	1226		c.e11-1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCAGATACCTGTGAAAACA	0.303000													47	114					5.7761e-15	7.75441e-15	0.870114	1	0
GRM8	2918	broad.mit.edu	37	7	126173694	126173694	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:126173694G>T	ENST00000339582.2	-	9	2550	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	GRM8_ENST00000358373.3_Missense_Mutation_p.S581Y|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S581Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	581					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S581Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCCAGGGAGAATGCCACTC	0.512000										HNSCC(24;0.065)			13	136					2.61681e-11	3.27942e-11	0.457914	1	0
CDH12	1010	broad.mit.edu	37	5	21765146	21765146	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:21765146G>A	ENST00000382254.1	-	12	2542	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	CDH12_ENST00000504376.2_Missense_Mutation_p.P486S|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.P446S|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	486	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P486S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTCTGGAGGAAATTCATTT	0.338000										HNSCC(59;0.17)			14	319					0	0	0.520397	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337510	22337510	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22337510C>A	ENST00000390436.2	+	0	324																											AGAGACCCAACCTGAAGACTC	0.493000													101	260					1.2656e-43	2.2393e-43	0.870114	1	0
OR2B11	127623	broad.mit.edu	37	1	247614463	247614463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247614463C>A	ENST00000318749.6	-	1	845	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q274H(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAAATTTGCCCTGCTCTTGGG	0.493000													94	339					1.21964e-59	2.3021e-59	0.870114	1	0
GPR132	29933	broad.mit.edu	37	14	105518393	105518393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:105518393G>T	ENST00000329797.3	-	4	992	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.G18G|GPR132_ENST00000539291.2_Silent_p.G27G	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	27					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G27G(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGGCGGAGAGGCCCAGGGAGG	0.637000													11	22					3.27435e-08	3.84334e-08	0.457914	1	0
DLL3	10683	broad.mit.edu	37	19	39989617	39989617	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:39989617G>T	ENST00000205143.4	+	1	10	c.3G>T	c.(1-3)atG>atT	p.M1I	DLL3_ENST00000356433.5_Start_Codon_SNP_p.M1I|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	1					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.M1I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAAGGCCATGGTCTCCCCAC	0.642000													5	28					0.000602214	0.000648074	0.184627	1	0
KRT5	3852	broad.mit.edu	37	12	52910579	52910579	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:52910579A>G	ENST00000252242.4	-	7	1671	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	427	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.D427D(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCCTGGCATCCTTGAGGG	0.617000													108	146					0	0	0.870114	0	0
JMY	133746	broad.mit.edu	37	5	78610543	78610543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:78610543G>T	ENST00000396137.4	+	9	2990	c.2528G>T	c.(2527-2529)aGa>aTa	p.R843I	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	843					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.R489I(2)|p.R843I(2)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GATCTGCCTAGAAAGGAGGGG	0.592000													22	118					1.32181e-22	2.00229e-22	0.717897	1	0
RYR2	6262	broad.mit.edu	37	1	237798280	237798280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:237798280G>A	ENST00000366574.2	+	44	7097	c.6780G>A	c.(6778-6780)ccG>ccA	p.P2260P	RYR2_ENST00000360064.6_Silent_p.P2258P|RYR2_ENST00000542537.1_Silent_p.P2244P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2260	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P2258P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGTGAGCCGGATCTAGAAA	0.423000													6	69					0	0	0.248553	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136384	220136384	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:220136384T>C	ENST00000490341.1	+	0	854					NR_003063.1																						TGGCAGAGATTACCAATGCCT	0.552000													3	68					0	0	0.335167	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951377	130951377	+	Missense_Mutation	SNP	C	C	G	rs148936100	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:130951377C>G	ENST00000312988.7	-	4	1138	c.1038G>C	c.(1036-1038)tgG>tgC	p.W346C		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	346					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGTCGGGCACCAATCCACAA	0.542000													3	79					0	0	0.115264	0	0
ATP2B3	492	broad.mit.edu	37	X	152814180	152814180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:152814180G>A	ENST00000370186.1	+	8	1490	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*	ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.W388*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	402					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.W402*(6)|p.W388*(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGACATGGCTGGCAGAGT	0.562000													7	50					0	0	0.335167	0	0
USP54	159195	broad.mit.edu	37	10	75290091	75290091	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:75290091C>T	ENST00000339859.4	-	13	1738	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Silent_p.R546R|USP54_ENST00000428547.1_Silent_p.R396R|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Silent_p.R546R			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	546					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R546R(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGGCAGGGTCCTAGGAGGTT	0.507000													20	95					0	0	0.624587	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301896	139301896	+	Silent	SNP	G	G	A	rs3841201		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:139301896G>A	ENST00000298537.7	-	4	662	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	SDCCAG3_ENST00000371725.3_Silent_p.L101L|SDCCAG3_ENST00000357365.3_Silent_p.L174L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	174						cytoplasm		p.L174L(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCTCATCCAGGAGGTCACCA	0.647000													4	3					0	0	0.184627	0	0
APOB	338	broad.mit.edu	37	2	21239499	21239499	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:21239499G>T	ENST00000233242.1	-	21	3271	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1048					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1048T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAATGTCATGGTAGCCTCAG	0.468000													29	250					2.48696e-23	3.78327e-23	0.779181	1	0
GANAB	23193	broad.mit.edu	37	11	62398602	62398602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:62398602C>A	ENST00000346178.4	-	11	1131	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	GANAB_ENST00000540933.1_Missense_Mutation_p.Q253H|GANAB_ENST00000534779.1_Missense_Mutation_p.Q258H|GANAB_ENST00000356638.3_Missense_Mutation_p.Q350H	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	350					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.Q350H(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAACATCTGTCTGTGGGGTCT	0.547000													110	323					1.22493e-33	2.03649e-33	0.870114	1	0
FCRLA	84824	broad.mit.edu	37	1	161680698	161680698	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:161680698C>A	ENST00000367959.2	+	3	539	c.297C>A	c.(295-297)tcC>tcA	p.S99S	FCRLA_ENST00000236938.6_Silent_p.S93S|FCRLA_ENST00000367950.1_Silent_p.S53S|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Silent_p.S76S|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Silent_p.S82S|FCRLA_ENST00000367949.2_Silent_p.S93S|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Silent_p.S76S|FCRLA_ENST00000546024.1_Silent_p.S93S|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Silent_p.S82S	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGATTGTGTCCTATGGTGAGG	0.552000													43	117					3.50607e-19	5.04085e-19	0.870114	1	0
NNMT	4837	broad.mit.edu	37	11	114183054	114183054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:114183054G>T	ENST00000535401.1	+	5	914	c.650G>T	c.(649-651)gGc>gTc	p.G217V	NNMT_ENST00000541754.1_Missense_Mutation_p.G22V|NNMT_ENST00000545255.1_Missense_Mutation_p.G22V|NNMT_ENST00000299964.3_Missense_Mutation_p.G217V|NNMT_ENST00000542647.1_Missense_Mutation_p.G22V|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	217					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.G217V(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTCCCCCTGGGCCGGGAGGCA	0.547000													8	72					0.000673444	0.000721835	0.361761	1	0
BLOC1S4	55330	broad.mit.edu	37	4	6718442	6718442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:6718442C>T	ENST00000320776.3	+	1	601	c.506C>T	c.(505-507)gCg>gTg	p.A169V		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino									p.A169V(2)									TTCCCCAGGGCGTTCAAGAAG	0.657000													3	26					0	0	0.150653	0	0
ABCA10	10349	broad.mit.edu	37	17	67151277	67151277	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:67151277C>A	ENST00000269081.4	-	31	4486	c.3576_splice	c.e31-1	p.E1193_splice	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1193					transport	integral to membrane	ATP binding|ATPase activity	p.E1193*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGACTGGTTCCTGGAAAACA	0.323000													32	74					1.61004e-24	2.49161e-24	0.870114	1	0
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:154490316G>T	ENST00000369454.3	-	2	714	c.414C>A	c.(412-414)gcC>gcA	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488000													73	110					3.80779e-57	7.09995e-57	0.870114	1	0
AGO3	192669	broad.mit.edu	37	1	36437711	36437711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:36437711G>T	ENST00000373191.4	+	4	748	c.399G>T	c.(397-399)tgG>tgT	p.W133C	AGO3_ENST00000397828.2_Missense_Mutation_p.W133C|AGO3_ENST00000324350.5_Missense_Mutation_p.W133C|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3									p.W133C(2)									GGGTGAGTTGGCACCTACTGC	0.483000													30	184					9.78485e-24	1.497e-23	0.769981	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691975	31691975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:31691975G>T	ENST00000360542.3	-	1	632	c.379C>A	c.(379-381)Ccg>Acg	p.P127T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	127						intermediate filament		p.P127T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGAGCAGCGGCCTCAGTGGA	0.537000													15	351					8.60227e-14	1.13499e-13	0.500413	1	0
PAQR9	344838	broad.mit.edu	37	3	142681802	142681802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:142681802G>T	ENST00000340634.3	-	1	376	c.377C>A	c.(376-378)gCg>gAg	p.A126E	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	126						integral to membrane	receptor activity	p.A126E(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACTCCCGACGCGTAGCACCA	0.652000													7	22					7.48243e-07	8.60399e-07	0.335167	1	0
ASB15	142685	broad.mit.edu	37	7	123257664	123257664	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:123257664C>A	ENST00000451558.1	+	9	845	c.324C>A	c.(322-324)acC>acA	p.T108T	RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000540573.1_Silent_p.T108T|ASB15_ENST00000275699.3_Silent_p.T108T|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000434204.1_Silent_p.T108T|ASB15_ENST00000451215.1_Silent_p.T108T			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATTCAAGACCTGTGATGGAG	0.388000													78	222					2.72676e-27	4.31301e-27	0.870114	1	0
RICTOR	253260	broad.mit.edu	37	5	39021164	39021164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:39021164C>A	ENST00000357387.3	-	3	202	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G58C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	58					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G58C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCAGATGGCCTAGCTTTCTC	0.328000													63	480					1.45978e-39	2.52872e-39	0.870114	1	0
ZNF292	23036	broad.mit.edu	37	6	87966098	87966098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:87966098G>T	ENST00000369577.3	+	8	2794	c.2751G>T	c.(2749-2751)ttG>ttT	p.L917F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L912F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L917F(2)|p.L772F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACCATTGTCAAATGGTT	0.443000													60	167					2.36135e-34	3.9503e-34	0.870114	1	0
VCAN	1462	broad.mit.edu	37	5	82837202	82837202	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:82837202G>C	ENST00000265077.3	+	8	8945	c.8380G>C	c.(8380-8382)Gag>Cag	p.E2794Q	VCAN_ENST00000343200.5_Missense_Mutation_p.E1807Q|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2794	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2794Q(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTGTAACAGAGGTGCCTGA	0.433000													25	358					0	0	0.750413	0	0
GARNL3	84253	broad.mit.edu	37	9	130101923	130101923	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:130101923G>A	ENST00000373387.4	+	13	1380		c.e13-1		GARNL3_ENST00000435213.2_Splice_Site|GARNL3_ENST00000314904.5_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCTCTACTTAGGCTGAAAATA	0.438000													12	144					0	0	0.435327	0	0
SRGAP2	23380	broad.mit.edu	37	1	206611329	206611329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:206611329C>T	ENST00000414007.1	+	12	1229	c.1229C>T	c.(1228-1230)gCt>gTt	p.A410V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	550					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.A410V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GACCCCCTGGCTGGGGACCAG	0.542000													56	186					0	0	0.870114	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486483	76486483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:76486483C>A	ENST00000307431.8	+	9	1532	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387T	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTAGCACTGCCAGACTTCTC	0.428000													15	124					4.14922e-12	5.31773e-12	0.500413	1	0
SPEF2	79925	broad.mit.edu	37	5	35691149	35691149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:35691149G>T	ENST00000440995.2	+	11	1535	c.1535G>T	c.(1534-1536)gGa>gTa	p.G512V	SPEF2_ENST00000356031.3_Missense_Mutation_p.G512V|SPEF2_ENST00000509059.1_Missense_Mutation_p.G512V|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	512					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.G512V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACATGGTTGGAGAGTGGGCC	0.338000													14	59					1.5739e-10	1.93849e-10	0.500413	1	0
HEATR5A	25938	broad.mit.edu	37	14	31778370	31778370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:31778370G>T	ENST00000543095.2	-	29	4644	c.4460C>A	c.(4459-4461)gCa>gAa	p.A1487E	HEATR5A_ENST00000389961.3_Missense_Mutation_p.A1481E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A1194E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A1481E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1481							binding	p.A1481E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTAGTCTCTGCTGTGTAGAA	0.368000													42	159					3.68337e-26	5.76668e-26	0.870114	1	0
CAMTA1	23261	broad.mit.edu	37	1	7700548	7700548	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:7700548A>G	ENST00000303635.7	+	7	806	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N200S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.N200S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCTCCATCAACACCGACAAG	0.627000			T	WWTR1	epitheliod hemangioendothelioma								5	95					0	0	0.217242	0	0
FBN2	2201	broad.mit.edu	37	5	127648343	127648343	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:127648343C>T	ENST00000508053.1	-	43	5836	c.4862G>A	c.(4861-4863)tGc>tAc	p.C1621Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C1621Y			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.C1621Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGGGGGGCATGTCTCACA	0.512000													24	878					0	0	0.654019	0	0
FSIP2	401024	broad.mit.edu	37	2	186672293	186672293	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:186672293C>A	ENST00000343098.5	+	17	18527	c.18527C>A	c.(18526-18528)tCt>tAt	p.S6176Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6087Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.S785Y(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGGTTCAGTCTGTTTATAAT	0.333000													65	134					3.13765e-25	4.89802e-25	0.870114	1	0
CCDC136	64753	broad.mit.edu	37	7	128450286	128450286	+	Missense_Mutation	SNP	C	C	A	rs116868322	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:128450286C>A	ENST00000297788.4	+	12	2261	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	632						integral to membrane	protein binding	p.Q632K(4)|p.Q748K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACAGAACCAAGACTGTGT	0.468000													30	25					2.47316e-13	3.23529e-13	0.779181	1	0
ACSL1	2180	broad.mit.edu	37	4	185697670	185697670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:185697670C>A	ENST00000515030.1	-	7	1049	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ACSL1_ENST00000504900.1_Missense_Mutation_p.G242W|ACSL1_ENST00000507295.1_Missense_Mutation_p.G208W|ACSL1_ENST00000513317.1_Missense_Mutation_p.G242W|ACSL1_ENST00000504342.1_Missense_Mutation_p.G242W|ACSL1_ENST00000281455.2_Missense_Mutation_p.G242W|ACSL1_ENST00000437665.3_Missense_Mutation_p.G71W|ACSL1_ENST00000454703.2_Missense_Mutation_p.G71W			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	242					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G242W(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTTCCACCCCACACCTCTGG	0.522000													25	103					7.01153e-11	8.71573e-11	0.717897	1	0
CHD5	26038	broad.mit.edu	37	1	6173020	6173020	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:6173020G>A	ENST00000262450.3	-	34	5050	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	CHD5_ENST00000378021.1_Silent_p.L508L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1651					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L1651L(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCAGCTCCAGCTTGTCCAGG	0.577000													3	31					0	0	0.115264	0	0
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:86838537C>A	ENST00000441037.2	+	16	2229	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R	AGBL1_ENST00000421325.2_Silent_p.R712R|AGBL1_ENST00000389298.3_Silent_p.R443R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468000													81	156					5.2429e-30	8.51872e-30	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	113988292	113988292	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113988292G>T	ENST00000297405.5	-	7	1360	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S372R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S332R|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	372						integral to membrane|plasma membrane		p.S372R(2)|p.S332R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCAGGTGTGCTAGCAACAG	0.483000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	157					2.94398e-08	3.46313e-08	0.557998	1	0
TRIB2	28951	broad.mit.edu	37	2	12880889	12880889	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:12880889T>A	ENST00000155926.4	+	3	2420	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198K	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACGTCAACATGGAAGAGAAC	0.512000													49	180					0	0	0.870114	0	0
AGL	178	broad.mit.edu	37	1	100336081	100336081	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:100336081G>T	ENST00000294724.4	+	6	1268	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	AGL_ENST00000370163.3_Missense_Mutation_p.G264W|AGL_ENST00000361522.4_Missense_Mutation_p.G247W|AGL_ENST00000361915.3_Missense_Mutation_p.G264W|AGL_ENST00000370161.2_Missense_Mutation_p.G248W|AGL_ENST00000361302.3_Missense_Mutation_p.G248W|AGL_ENST00000370165.3_Missense_Mutation_p.G264W	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	264					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.G264W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTGCAGAAGGGAAATACAA	0.383000													35	123					1.41504e-22	2.13748e-22	0.859065	1	0
G2E3	55632	broad.mit.edu	37	14	31077153	31077153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:31077153G>T	ENST00000206595.6	+	12	1532	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	G2E3_ENST00000438909.2_Missense_Mutation_p.G414C|G2E3_ENST00000553504.1_Missense_Mutation_p.G490C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	460	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.G460C(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTAGTTCACGGTGGTCCTTC	0.348000													13	137					4.36969e-10	5.33301e-10	0.435327	1	0
KIAA1377	57562	broad.mit.edu	37	11	101786030	101786030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:101786030G>T	ENST00000263468.8	+	1	285	c.15G>T	c.(13-15)agG>agT	p.R5S	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	5							protein binding	p.R5S(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGGCGGGGAGGCCCGGAACCC	0.701000													13	11					7.07596e-05	7.79444e-05	0.539581	1	0
KAT6B	23522	broad.mit.edu	37	10	76736089	76736089	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:76736089G>T	ENST00000287239.4	+	8	2482		c.e8+1		KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B						histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.?(2)									CAGGATGATGGTAAGCAAAAG	0.473000													20	86					2.41591e-17	3.38291e-17	0.681144	1	0
TTLL4	9654	broad.mit.edu	37	2	219611895	219611895	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:219611895G>A	ENST00000392102.1	+	9	2484	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	TTLL4_ENST00000258398.4_Missense_Mutation_p.R715H|TTLL4_ENST00000457313.1_Missense_Mutation_p.R550H|TTLL4_ENST00000442769.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	715	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	p.R715H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGCAGCAGCCGCCAAAAGTGG	0.542000													3	37					0	0	0.115264	0	0
STIM1	6786	broad.mit.edu	37	11	4104157	4104157	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:4104157C>T	ENST00000300737.4	+	9	1752	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y	STIM1_ENST00000527651.1_Missense_Mutation_p.H395Y|STIM1_ENST00000533977.1_Missense_Mutation_p.H222Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	395					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.H395Y(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGCACCTTCCACGTGGCCCA	0.433000													74	230					0	0	0.870114	0	0
SYNE1	23345	broad.mit.edu	37	6	152763330	152763330	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:152763330G>T	ENST00000367255.5	-	31	4489	c.3888C>A	c.(3886-3888)atC>atA	p.I1296I	SYNE1_ENST00000448038.1_Silent_p.I1303I|SYNE1_ENST00000413186.2_Silent_p.I1296I|SYNE1_ENST00000265368.4_Silent_p.I1296I|SYNE1_ENST00000423061.1_Silent_p.I1303I|SYNE1_ENST00000341594.5_Silent_p.I1362I|SYNE1_ENST00000367248.3_Silent_p.I1286I|SYNE1_ENST00000367253.4_Silent_p.I1296I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I1296I(4)|p.I1303I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCTGCGCGATCTGCTGCT	0.557000										HNSCC(10;0.0054)			37	76					1.01817e-39	1.76944e-39	0.847076	1	0
LBP	3929	broad.mit.edu	37	20	36993396	36993396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:36993396C>A	ENST00000217407.2	+	8	1072	c.911C>A	c.(910-912)aCa>aAa	p.T304K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	304					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T304K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTCTCCATCACAGATGACATG	0.453000													27	199					2.81731e-10	3.45805e-10	0.750413	1	0
CNOT1	23019	broad.mit.edu	37	16	58616700	58616700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:58616700T>A	ENST00000317147.5	-	10	1373	c.1041A>T	c.(1039-1041)gaA>gaT	p.E347D	CNOT1_ENST00000441024.2_Missense_Mutation_p.E347D|CNOT1_ENST00000569240.1_Missense_Mutation_p.E347D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	347					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E347D(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTCACCAGTTCTTTAAGAA	0.383000													5	34					0	0	0.184627	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605956	13605956	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:13605956A>G	ENST00000040738.5	-	10	2703	c.2568T>C	c.(2566-2568)ggT>ggC	p.G856G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	856	Lys-rich.						DNA binding	p.G856G(2)									GTTGCTTGGAACCCAGAGAAT	0.368000													3	82					0	0	0.184627	0	0
LIPK	643414	broad.mit.edu	37	10	90499787	90499787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:90499787C>T	ENST00000404190.1	+	7	851	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	284					lipid catabolic process	extracellular region	hydrolase activity	p.A284V(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACAATCCTGCGGGAACATCT	0.423000													78	182					0	0	0.870114	0	0
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:78959150G>C	ENST00000370756.3	+	2	959	c.722G>C	c.(721-723)aGa>aCa	p.R241T	PTGFR_ENST00000370757.3_Missense_Mutation_p.R241T|PTGFR_ENST00000370758.1_Missense_Mutation_p.R241T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	241					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R241T(4)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423000													22	98					0	0	0.706142	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181997	140181997	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140181997C>T	ENST00000522353.2	+	1	1215	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y405Y|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.Y405Y(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATTACTACTCATTGGTGC	0.627000													52	129					0	0	0.870114	0	0
OR2C3	81472	broad.mit.edu	37	1	247695356	247695356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247695356C>A	ENST00000366487.3	-	2	819	c.458G>T	c.(457-459)gGt>gTt	p.G153V	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTGGTCAGACCCCCCAGCCA	0.562000													12	24					1.49906e-05	1.67359e-05	0.457914	1	0
FREM1	158326	broad.mit.edu	37	9	14784421	14784421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:14784421C>A	ENST00000380881.4	-	25	5207	c.4392G>T	c.(4390-4392)caG>caT	p.Q1464H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q1463H|FREM1_ENST00000380880.3_Missense_Mutation_p.Q1463H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1463					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q1464H(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAAACTGTCTGCCCCACTA	0.458000													52	137					1.4709e-25	2.29949e-25	0.870114	1	0
NLRP14	338323	broad.mit.edu	37	11	7092508	7092508	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:7092508A>T	ENST00000299481.4	+	12	3597	c.3251A>T	c.(3250-3252)gAa>gTa	p.E1084V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1084					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E1084V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCATAATGAAGAAGATGTG	0.363000													9	139					0	0	0.361761	0	0
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:21631013C>T	ENST00000328843.6	+	14	2516	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R829C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R829C(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAGTTGAGCGCACACAGAA	0.607000									Kartagener syndrome				28	161					0	0	0.750413	0	0
RPGR	6103	broad.mit.edu	37	X	38146246	38146246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:38146246C>A	ENST00000378505.2	-	15	2182	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L	RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000339363.3_Intron|TM4SF2_ENST00000465127.1_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	658	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.W669L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cTCATCTTGCCAGTGTTCTGC	0.532000													9	24					0.00829132	0.0086204	0.361761	1	0
ITIH2	3698	broad.mit.edu	37	10	7773794	7773794	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:7773794C>A	ENST00000358415.4	+	13	1648	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	ITIH2_ENST00000379587.4_Silent_p.S483S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	494					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S494S(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCAGGTCTCCACTCCATTGC	0.373000													54	303					6.05568e-20	8.80081e-20	0.870114	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768708	31768708	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:31768708T>G	ENST00000355459.2	+	1	317	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	102						intermediate filament		p.F102V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTCTAGGCTTTGGATCCAG	0.597000													5	67					0	0	0.248553	0	0
MUSK	4593	broad.mit.edu	37	9	113563158	113563158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:113563158C>A	ENST00000416899.2	+	13	2602	c.2476C>A	c.(2476-2478)Ctc>Atc	p.L826I	MUSK_ENST00000189978.5_Missense_Mutation_p.L834I|MUSK_ENST00000374448.4_Missense_Mutation_p.L834I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	834	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L834I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTGTACAATCTCATGCGTCT	0.542000													43	140					3.39706e-21	5.0254e-21	0.870114	1	0
CREB3L2	64764	broad.mit.edu	37	7	137600584	137600584	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:137600584C>A	ENST00000330387.6	-	3	845	c.495_splice	c.e3+1	p.G165_splice	CREB3L2_ENST00000458726.1_Splice_Site_p.G102_splice|CREB3L2_ENST00000452463.1_Splice_Site_p.G165_splice|CREB3L2_ENST00000456390.1_Splice_Site_p.G165_splice	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	165					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G165V(2)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGCATACCCCAGTGTTCAT	0.458000			T	FUS	fibromyxoid sarcoma								73	151					7.63117e-38	1.30925e-37	0.870114	1	0
NUF2	83540	broad.mit.edu	37	1	163298635	163298635	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:163298635G>T	ENST00000271452.3	+	5	554		c.e5-1		NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000490881.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.?(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCATCTTCAAGGGACTCATTT	0.333000													87	294					6.00251e-64	1.15326e-63	0.870114	1	0
NUGGC	389643	broad.mit.edu	37	8	27887919	27887919	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:27887919C>A	ENST00000413272.2	-	16	2067	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V	NUGGC_ENST00000341513.6_Missense_Mutation_p.G642V	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G642V(2)									CTCCAGGCCCCCGAGGATGGC	0.562000													8	21					9.70103e-10	1.17595e-09	0.361761	1	0
GLB1L2	89944	broad.mit.edu	37	11	134239735	134239735	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:134239735C>T	ENST00000535456.2	+	11	1252	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.T355M|GLB1L2_ENST00000339772.7_Missense_Mutation_p.T355M|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	355					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.T355M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCGATTACACGGCCAAGTAC	0.552000													4	149					0	0	0.150653	0	0
COL15A1	1306	broad.mit.edu	37	9	101817383	101817383	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:101817383G>T	ENST00000375001.3	+	33	3454		c.e33-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCTTTTTCAGGTCCTCCACT	0.353000													17	255					1.10513e-12	1.43174e-12	0.624587	1	0
PTGFRN	5738	broad.mit.edu	37	1	117509740	117509740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:117509740T>C	ENST00000393203.2	+	6	1994	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	616	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.L616P(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGTGAAGCTGGAGAATTGG	0.498000													50	649					0	0	0.870114	0	0
CUBN	8029	broad.mit.edu	37	10	17169921	17169921	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:17169921G>A	ENST00000377833.4	-	3	320	c.255C>T	c.(253-255)atC>atT	p.I85I	CUBN_ENST00000377823.1_Silent_p.I85I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	85					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTTTTCTGGATCTAATTTT	0.284000													9	70					0	0	0.361761	0	0
SMC4	10051	broad.mit.edu	37	3	160120494	160120494	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:160120494A>T	ENST00000357388.3	+	4	800	c.349A>T	c.(349-351)Agt>Tgt	p.S117C	SMC4_ENST00000469762.1_Missense_Mutation_p.S92C|SMC4_ENST00000344722.5_Missense_Mutation_p.S117C|SMC4_ENST00000462787.1_Missense_Mutation_p.S117C|SMC4_ENST00000360111.2_Missense_Mutation_p.S117C|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	117					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.S117C(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCCAAATGGCAGTGGCAAATC	0.323000													30	32					0	0	0.812448	0	0
AFF2	2334	broad.mit.edu	37	X	147743879	147743879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:147743879G>T	ENST00000370460.2	+	3	1110	c.631G>T	c.(631-633)Gag>Tag	p.E211*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.E207*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.E207*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.E207*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	211					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E211*(4)|p.E211K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTTGAAGAGTCAAACCC	0.433000													183	258					2.40723e-144	4.87804e-144	0.870114	1	0
EPHA7	2045	broad.mit.edu	37	6	93964397	93964397	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:93964397C>T	ENST00000369303.4	-	14	2684	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	834	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E834K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAGGTCTTTCTCCATAAGAC	0.398000													21	102					0	0	0.667858	0	0
SEC13	6396	broad.mit.edu	37	3	10354321	10354321	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:10354321C>G	ENST00000397117.1	-	4	807	c.216G>C	c.(214-216)tgG>tgC	p.W72C	SEC13_ENST00000397109.3_Missense_Mutation_p.W72C|SEC13_ENST00000383801.2_Missense_Mutation_p.W132C|SEC13_ENST00000350697.3_Missense_Mutation_p.W86C|SEC13_ENST00000337354.4_Missense_Mutation_p.W89C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	86					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.W86C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTTCCTCTCTCCAGATAATGA	0.582000													27	74					0	0	0.693898	0	0
STPG2	285555	broad.mit.edu	37	4	98865110	98865110	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:98865110A>G	ENST00000295268.3	-	8	1071	c.982T>C	c.(982-984)Ttg>Ctg	p.L328L		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.L328L(1)									TTGTTAGTCAAGTTAGGTAAT	0.318000													11	430					0	0	0.435327	0	0
PLCE1	51196	broad.mit.edu	37	10	96005857	96005857	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:96005857C>A	ENST00000260766.3	+	8	3209	c.2575C>A	c.(2575-2577)Cag>Aag	p.Q859K	PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859K|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551K|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGATGTGCACCAGTTCCTGCT	0.582000													78	88					8.64784e-51	1.57687e-50	0.870114	1	0
CNTN4	152330	broad.mit.edu	37	3	2908612	2908612	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:2908612C>A	ENST00000397461.1	+	7	1015	c.631C>A	c.(631-633)Cca>Aca	p.P211T	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.P211T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P211T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	211					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P211T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCACCTACACCACTAATATT	0.383000													21	67					4.26978e-12	5.45272e-12	0.654019	1	0
KCNA4	3739	broad.mit.edu	37	11	30032330	30032330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:30032330C>A	ENST00000328224.6	-	2	3129	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	632						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGTCATCCCCCTTTCCCTGAC	0.483000													58	147					7.48145e-19	1.07277e-18	0.870114	1	0
OR1J4	26219	broad.mit.edu	37	9	125281931	125281931	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:125281931A>T	ENST00000340750.1	+	1	512	c.512A>T	c.(511-513)gAc>gTc	p.D171V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D171V(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTTGTGCTGACAACACCATC	0.512000													15	165					0	0	0.457914	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486484	76486484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:76486484C>G	ENST00000307431.8	+	9	1533	c.1148C>G	c.(1147-1149)cCa>cGa	p.P383R	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335R|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGCACTGCCAGACTTCTCT	0.433000													15	123					0	0	0.500413	0	0
THSD7A	221981	broad.mit.edu	37	7	11582602	11582602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:11582602C>A	ENST00000423059.3	-	5	1847	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	532	TSP type-1 5.					integral to membrane		p.Q532H(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTCCCTTGCTGATCATTAC	0.388000										HNSCC(18;0.044)			31	115					1.22384e-17	1.7272e-17	0.769981	1	0
TRIM55	84675	broad.mit.edu	37	8	67064863	67064863	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:67064863G>T	ENST00000315962.4	+	8	1609		c.e8+1		TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Splice_Site|TRIM55_ENST00000353317.5_Splice_Site	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGTGACACAGGTAACCCCTCC	0.542000													33	140					4.14481e-20	6.03188e-20	0.819951	1	0
SERPINA9	327657	broad.mit.edu	37	14	94936027	94936027	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:94936027A>T	ENST00000337425.5	-	2	279	c.205T>A	c.(205-207)Ttt>Att	p.F69I	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.F69I|SERPINA9_ENST00000380365.3_Missense_Mutation_p.F51I	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	51					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.F69I(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CGGAAGGCAAAGTCGGTGTTG	0.582000													144	385					0	0	0.870114	0	0
COL3A1	1281	broad.mit.edu	37	2	189849689	189849689	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:189849689G>T	ENST00000304636.3	+	2	452		c.e2+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.?(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAACTGCTGTGAGTTTAAA	0.388000													11	25					6.42651e-13	8.36615e-13	0.387290	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121623757	121623757	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:121623757C>G	ENST00000393386.2	+	7	1069	c.658C>G	c.(658-660)Ctt>Gtt	p.L220V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L220V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	220	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.L220V(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTGAACCTTCTGCCAAA	0.393000													140	298					0	0	0.870114	0	0
DACH2	117154	broad.mit.edu	37	X	85404014	85404014	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:85404014C>A	ENST00000373131.1	+	1	553	c.390C>A	c.(388-390)atC>atA	p.I130I	DACH2_ENST00000373125.4_Silent_p.I130I	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	130	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.I130I(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGTCCGGATCCTCCGCGGGC	0.552000													7	23					7.48243e-07	8.60399e-07	0.335167	1	0
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:11187673G>T	ENST00000337414.4	-	9	2633	c.1761C>A	c.(1759-1761)atC>atA	p.I587I	ARHGAP6_ENST00000413512.3_Silent_p.I396I|ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000303025.6_Silent_p.I384I|ARHGAP6_ENST00000380736.1_Silent_p.I384I	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	587	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.I587I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493000													128	194					3.58306e-76	7.03512e-76	0.870114	1	0
LBP	3929	broad.mit.edu	37	20	36993349	36993349	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:36993349G>T	ENST00000217407.2	+	8	1025	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	288					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T288T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTTCAACACGGCCAGCCTGG	0.473000													41	227					1.02687e-29	1.66343e-29	0.864702	1	0
MYOM3	127294	broad.mit.edu	37	1	24388533	24388533	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:24388533G>A	ENST00000330966.7	-	33	4008	c.3846C>T	c.(3844-3846)caC>caT	p.H1282H	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Silent_p.H1279H|MYOM3_ENST00000338909.5_Silent_p.H172H			Q5VTT5	MYOM3_HUMAN	myomesin 3	1279								p.H1279H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTCCAGGATGTGAAGCCAGA	0.532000													51	406					0	0	0.870114	0	0
CD163	9332	broad.mit.edu	37	12	7636091	7636091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:7636091C>A	ENST00000359156.4	-	12	3162	c.2960G>T	c.(2959-2961)gGg>gTg	p.G987V	CD163_ENST00000432237.2_Missense_Mutation_p.G987V|CD163_ENST00000541972.1_Missense_Mutation_p.G975V|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.G1020V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CGGTCCAGTCCCCTGACCAAA	0.517000													49	147					2.12129e-23	3.24077e-23	0.870114	1	0
ALPK2	115701	broad.mit.edu	37	18	56203934	56203934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:56203934G>T	ENST00000361673.3	-	5	3698	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1162							ATP binding|protein serine/threonine kinase activity	p.A523D(2)|p.A1162D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGTGCAGCAGATGTCGT	0.577000													21	76					2.81731e-10	3.45805e-10	0.750413	1	0
OR14A16	284532	broad.mit.edu	37	1	247978554	247978554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247978554C>A	ENST00000357627.1	-	1	477	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160C(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAGAAGGTGCCAGCTGTGTGC	0.473000													103	513					6.25825e-54	1.15686e-53	0.870114	1	0
MUC16	94025	broad.mit.edu	37	19	9047921	9047921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:9047921G>T	ENST00000397910.4	-	5	33913	c.33710C>A	c.(33709-33711)tCa>tAa	p.S11237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11239	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6870*(2)|p.S11237*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGACCCATGAGTCTATGGT	0.483000													49	211					6.60958e-23	1.00406e-22	0.870114	1	0
SSFA2	6744	broad.mit.edu	37	2	182784139	182784139	+	Missense_Mutation	SNP	G	G	T	rs150716378	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:182784139G>T	ENST00000431877.2	+	14	3289	c.3110G>T	c.(3109-3111)cGc>cTc	p.R1037L	SSFA2_ENST00000409001.1_Missense_Mutation_p.R1037L|SSFA2_ENST00000428267.2_Missense_Mutation_p.R884L|SSFA2_ENST00000409136.1_Missense_Mutation_p.R546L|SSFA2_ENST00000320370.7_Missense_Mutation_p.R1037L|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1037						cytoplasm|plasma membrane	actin binding	p.R1037L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532000													7	222					0.00448238	0.00471045	0.307466	1	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													4	97					0	0	0.217242	0	0
ADCY5	111	broad.mit.edu	37	3	123046503	123046503	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:123046503T>A	ENST00000462833.1	-	7	3121	c.1909A>T	c.(1909-1911)Atc>Ttc	p.I637F	ADCY5_ENST00000309879.5_Missense_Mutation_p.I287F|ADCY5_ENST00000491190.1_Missense_Mutation_p.I270F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	637					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I637F(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGGTCTCGATACTGTGCTCC	0.622000													13	41					0	0	0.435327	0	0
COL5A1	1289	broad.mit.edu	37	9	137646119	137646119	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:137646119G>T	ENST00000371817.3	+	16	2188	c.1773_splice	c.e16-1	p.G592_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	592	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G592C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCTGGCAGGGTCCTCGAGG	0.627000													5	8					0.000602214	0.000648074	0.184627	1	0
FAT3	120114	broad.mit.edu	37	11	92531039	92531039	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:92531039A>T	ENST00000298047.6	+	9	4877	c.4860A>T	c.(4858-4860)ctA>ctT	p.L1620L	FAT3_ENST00000525166.1_Silent_p.L1470L|FAT3_ENST00000409404.2_Silent_p.L1620L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1620	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L1620L(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCGGTCCTAGGCATCATCA	0.428000										TCGA Ovarian(4;0.039)			136	253					0	0	0.870114	0	0
TRIML1	339976	broad.mit.edu	37	4	189068505	189068505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:189068505C>A	ENST00000332517.3	+	6	1526	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.C462*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCACCATCTGCTCACTGAACA	0.562000													9	30					1.3612e-06	1.55359e-06	0.479597	1	0
WDR36	134430	broad.mit.edu	37	5	110446486	110446486	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:110446486G>T	ENST00000506538.2	+	14	2182		c.e14-1		WDR36_ENST00000505303.1_Splice_Site|WDR36_ENST00000513710.2_Splice_Site	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36						response to stimulus|rRNA processing|visual perception	small-subunit processome		p.?(2)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTACCTTACAGCTCACAAGGG	0.373000													9	35					0.000673444	0.000721835	0.361761	1	0
NCOA2	10499	broad.mit.edu	37	8	71056877	71056877	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:71056877C>G	ENST00000452400.2	-	13	2993	c.2812_splice	c.e13+1	p.G938_splice	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	938					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.G938R(2)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCCTTACCTGTGCTACTG	0.363000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	99					0	0	0.479597	0	0
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:131797656G>T	ENST00000286355.5	-	16	5218	c.3126C>A	c.(3124-3126)gcC>gcA	p.A1042A	ADCY8_ENST00000377928.3_Silent_p.A911A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCTGACACGGCCATGTAGG	0.498000										HNSCC(32;0.087)			102	377					1.54771e-57	2.89086e-57	0.870114	1	0
CIT	11113	broad.mit.edu	37	12	120263085	120263085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:120263085C>A	ENST00000392521.2	-	8	896	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	CIT_ENST00000261833.7_Missense_Mutation_p.G281C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	281	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.G281C(4)|p.G282C(2)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGTCCAGGCCGTAGGTGCCT	0.527000													124	170					1.7381e-60	3.29809e-60	0.870114	1	0
NBEA	26960	broad.mit.edu	37	13	35733541	35733541	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:35733541C>A	ENST00000400445.3	+	22	3767	c.3233C>A	c.(3232-3234)cCg>cAg	p.P1078Q	NBEA_ENST00000310336.4_Missense_Mutation_p.P1078Q|NBEA_ENST00000379939.2_Missense_Mutation_p.P1078Q|NBEA_ENST00000540320.1_Missense_Mutation_p.P1078Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1078						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.P1078Q(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATTTATCACCGGAGACTTTA	0.403000													11	85					2.31682e-05	2.57318e-05	0.479597	1	0
TEX13B	56156	broad.mit.edu	37	X	107224574	107224574	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:107224574G>A	ENST00000302917.1	-	3	767	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	225								p.L225L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAATAGCTCCGAGGGGCTGCC	0.592000													20	125					0	0	0.557998	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634713	206634713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:206634713G>T	ENST00000414007.1	+	19	2744	c.2744G>T	c.(2743-2745)gGt>gTt	p.G915V				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1055					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.G915V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAGCCCTGGTGTCAACTCA	0.502000													70	165					2.0464e-58	3.84237e-58	0.870114	1	0
NOBOX	135935	broad.mit.edu	37	7	144097391	144097391	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:144097391G>A	ENST00000467773.1	-	5	858	c.859C>T	c.(859-861)Cta>Tta	p.L287L	NOBOX_ENST00000483238.1_Silent_p.L287L|NOBOX_ENST00000223140.5_Silent_p.L202L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	287					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.L287L(4)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCTCTAGCTCCTCCAGC	0.507000													26	48					0	0	0.760397	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255192	140255192	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140255192G>T	ENST00000398631.2	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.V45V(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTTCGTGGGCCGCATCG	0.657000													10	16					3.35478e-16	4.61335e-16	0.479597	1	0
SNIP1	79753	broad.mit.edu	37	1	38005774	38005774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:38005774C>A	ENST00000296215.6	-	3	982	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	304	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A304S(2)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGAAAGACCGCATGCTGCTTT	0.428000													61	522					1.15098e-32	1.89593e-32	0.870114	1	0
ARFIP1	27236	broad.mit.edu	37	4	153802270	153802270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:153802270G>T	ENST00000451320.2	+	6	731	c.567G>T	c.(565-567)atG>atT	p.M189I	ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000405727.2_Missense_Mutation_p.M157I|ARFIP1_ENST00000356064.3_Missense_Mutation_p.M157I|ARFIP1_ENST00000353617.2_Missense_Mutation_p.M189I|ARFIP1_ENST00000511289.1_3'UTR			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	189	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.M189I(4)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTTCCAGATGGTACATACCC	0.348000													40	137					4.54978e-40	7.91972e-40	0.870114	1	0
PACS1	55690	broad.mit.edu	37	11	66001697	66001697	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:66001697G>A	ENST00000320580.4	+	17	2121	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S	PACS1_ENST00000529757.1_Silent_p.S232S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	696					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S696S(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAGTCGCTCGGAGCCACCAG	0.567000													23	136					0	0	0.654019	0	0
MICAL3	57553	broad.mit.edu	37	22	18301457	18301457	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:18301457C>A	ENST00000441493.2	-	26	4322	c.3970G>T	c.(3970-3972)Gtg>Ttg	p.V1324L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1324	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.V1324L(2)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AACTCCTCCACCAGGTCGCTC	0.662000													3	9					0.00024832	0.000270208	0.150653	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124423	142124423	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142124423C>A	ENST00000390376.2	-	0	54																											CCAGCATTCACTGGACCTGCA	0.547000													80	117					2.46668e-60	4.67233e-60	0.870114	1	0
ENPP3	5169	broad.mit.edu	37	6	131962666	131962666	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:131962666G>C	ENST00000414305.1	+	3	478	c.150G>C	c.(148-150)aaG>aaC	p.K50N	ENPP3_ENST00000427148.2_Missense_Mutation_p.K16N|ENPP3_ENST00000543135.1_Missense_Mutation_p.K16N|ENPP3_ENST00000357639.3_Missense_Mutation_p.K50N|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.K50N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	50	SMB 1.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.K50N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AACTGGAAAAGCAAGGTATAC	0.423000													4	164					0	0	0.150653	0	0
ATXN1	6310	broad.mit.edu	37	6	16328052	16328052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:16328052C>A	ENST00000244769.4	-	8	1426	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ATXN1_ENST00000436367.1_Missense_Mutation_p.G164W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	164					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.G164W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGTGGCCCCTGCGGCCGAG	0.637000													20	21					9.39395e-14	1.23793e-13	0.706142	1	0
VPS16	64601	broad.mit.edu	37	20	2840774	2840774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:2840774G>T	ENST00000380445.3	+	3	289	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	VPS16_ENST00000380469.3_Missense_Mutation_p.G73C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	73					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.G73C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCTGCTTCCGGCATGCCTCT	0.577000													14	27					9.16793e-09	1.09161e-08	0.520397	1	0
TGM4	7047	broad.mit.edu	37	3	44951851	44951851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:44951851C>A	ENST00000296125.4	+	11	1665	c.1597C>A	c.(1597-1599)Caa>Aaa	p.Q533K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	533					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q533K(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCGCAGATCCAAGGTCAAGG	0.498000													42	75					1.12205e-10	1.38674e-10	0.870114	1	0
ETNPPL	64850	broad.mit.edu	37	4	109670480	109670480	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:109670480C>T	ENST00000296486.3	-	8	995	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	ETNPPL_ENST00000512646.1_Missense_Mutation_p.G223S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G275S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G241S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.G281S(2)									TGGCCGTTGCCCATCGGTTTT	0.468000													26	81					0	0	0.750413	0	0
ALK	238	broad.mit.edu	37	2	29551271	29551271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:29551271C>A	ENST00000389048.3	-	6	2265	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	453	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.Q453H(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTCACAGGCCTGCCCAAGCT	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				12	116					2.80697e-09	3.37591e-09	0.387290	1	0
LARP4B	23185	broad.mit.edu	37	10	860901	860901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:860901G>A	ENST00000316157.3	-	15	1845	c.1805C>T	c.(1804-1806)cCa>cTa	p.P602L	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	602							nucleotide binding|RNA binding	p.P602L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAAATGAGCTGGGGAGGGGGA	0.547000													7	80					0	0	0.335167	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144863409	144863409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:144863409C>A	ENST00000369359.4	-	40	6440	c.6402G>T	c.(6400-6402)caG>caT	p.Q2134H	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1892H|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2083H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1998					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCTTCACACTGTTGCTGCA	0.522000			T	PDGFRB	MPD								9	515					1.3612e-06	1.55359e-06	0.479597	1	0
CACNA1E	777	broad.mit.edu	37	1	181689959	181689959	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:181689959A>C	ENST00000526775.1	+	15	2089	c.1924A>C	c.(1924-1926)Acc>Ccc	p.T642P	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T249P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T642P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T642P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T642P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	642					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T642P(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTTTGATACCTTCCCTGC	0.428000													12	35					0	0	0.575678	0	0
EPHA6	285220	broad.mit.edu	37	3	96706434	96706434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:96706434C>A	ENST00000389672.5	+	3	749	c.711C>A	c.(709-711)aaC>aaA	p.N237K	EPHA6_ENST00000470610.2_Missense_Mutation_p.N237K|EPHA6_ENST00000542517.1_Missense_Mutation_p.N143K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	142						integral to plasma membrane	ATP binding|ephrin receptor activity	p.N143K(4)|p.N237K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCAAGCCAAACCAGTATACAA	0.413000													176	542					2.07866e-96	4.17285e-96	0.870114	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222743	140222743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140222743C>A	ENST00000531613.1	+	1	1837	c.1837C>A	c.(1837-1839)Cca>Aca	p.P613T	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P613T|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1												p.P613T(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTGCAGCCAGCTGCAAG	0.687000													13	37					5.01169e-05	5.53761e-05	0.520397	1	0
BRINP3	339479	broad.mit.edu	37	1	190250721	190250721	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:190250721C>A	ENST00000367462.3	-	3	627	c.396G>T	c.(394-396)ggG>ggT	p.G132G	FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_5'UTR|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		132						extracellular region		p.G132G(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAAATGTGTCCCATATTTCT	0.453000													38	139					4.67007e-22	7.0149e-22	0.840704	1	0
APOBEC4	403314	broad.mit.edu	37	1	183617876	183617876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:183617876G>A	ENST00000308641.4	-	2	312	c.41C>T	c.(40-42)aCa>aTa	p.T14I	RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	14					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.T14I(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTTACTATTGTTCCATGATT	0.378000													53	195					0	0	0.870114	0	0
OGN	4969	broad.mit.edu	37	9	95165621	95165621	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:95165621G>T	ENST00000262551.4	-	2	489	c.69C>A	c.(67-69)acC>acA	p.T23T	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Silent_p.T23T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	23						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGTCCTGCTGGGTTGGTGGTG	0.383000													34	86					4.14481e-20	6.03188e-20	0.819951	1	0
SMURF1	57154	broad.mit.edu	37	7	98633309	98633309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:98633309A>C	ENST00000361125.1	-	17	2237	c.1918T>G	c.(1918-1920)Ttg>Gtg	p.L640V	AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.L614V|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	640	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	p.L640V(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTCGTTCAAGTCTATTTTA	0.522000													5	40					0	0	0.248553	0	0
WDR65	149465	broad.mit.edu	37	1	43638557	43638557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:43638557C>A	ENST00000372492.4	+	2	457	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	WDR65_ENST00000528956.1_Missense_Mutation_p.Q45K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	45								p.Q45K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAATGTGGATCAGAAATGGCA	0.383000													53	176					2.19297e-23	3.34552e-23	0.870114	1	0
ZC4H2	55906	broad.mit.edu	37	X	64139003	64139003	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:64139003A>T	ENST00000545618.1	-	5	1028	c.465T>A	c.(463-465)gcT>gcA	p.A155A	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Silent_p.A160A|ZC4H2_ENST00000337990.2_Silent_p.A137A			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	160							metal ion binding|protein binding	p.A160A(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTGGGCGGCAGCGGCTGCAG	0.582000													19	29					0	0	0.769981	0	0
GRM8	2918	broad.mit.edu	37	7	126173340	126173340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:126173340G>T	ENST00000339582.2	-	9	2904	c.2096C>A	c.(2095-2097)aCc>aAc	p.T699N	GRM8_ENST00000358373.3_Missense_Mutation_p.T699N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.T699N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	699					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T699N(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGGCTGAAGGTGATCACCAG	0.498000										HNSCC(24;0.065)			50	86					3.21867e-24	4.97389e-24	0.870114	1	0
CHD6	84181	broad.mit.edu	37	20	40081428	40081428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:40081428T>A	ENST00000373233.3	-	21	3452	c.3275A>T	c.(3274-3276)tAc>tTc	p.Y1092F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1092					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.Y1092F(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGCTCGGAGGTAGCGCCTGGC	0.517000													5	170					0	0	0.217242	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476788	102476788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:102476788G>T	ENST00000360184.4	+	31	6561	c.6397G>T	c.(6397-6399)Gaa>Taa	p.E2133*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2133					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.E2133*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAATCTCCCTGAACAAGAGGT	0.388000													28	50					9.17885e-22	1.37683e-21	0.779181	1	0
PI4KB	5298	broad.mit.edu	37	1	151288658	151288658	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:151288658C>A	ENST00000368875.2	-	3	916	c.336G>T	c.(334-336)gaG>gaT	p.E112D	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.E100D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E100D|PI4KB_ENST00000368872.1_Missense_Mutation_p.E100D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E112D	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	100					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.E112D(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCATCTTCCTCCTCCCTGA	0.577000													47	224					5.66675e-16	7.76287e-16	0.870114	1	0
EXT2	2132	broad.mit.edu	37	11	44228501	44228501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:44228501G>T	ENST00000395673.3	+	10	1809	c.1753G>T	c.(1753-1755)Ggt>Tgt	p.G585C	EXT2_ENST00000343631.3_Missense_Mutation_p.G552C|EXT2_ENST00000358681.4_Missense_Mutation_p.G562C|EXT2_ENST00000533608.1_Missense_Mutation_p.G552C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGCAATTTGGTTATGAGGT	0.353000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				71	319					1.4648e-57	2.74077e-57	0.870114	1	0
DDC	1644	broad.mit.edu	37	7	50596906	50596906	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:50596906C>A	ENST00000444124.2	-	5	770	c.570_splice	c.e5+1	p.Q190_splice	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Splice_Site_p.Q190_splice|DDC_ENST00000380984.4_Splice_Site_p.Q190_splice|DDC_ENST00000426377.1_Splice_Site_p.Q112_splice	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	190					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Q190H(4)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACACACTCACCTGATCGGATG	0.512000													80	177					4.00701e-44	7.12505e-44	0.870114	1	0
FGB	2244	broad.mit.edu	37	4	155490753	155490753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:155490753G>A	ENST00000302068.4	+	7	1109	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.G130E	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	349	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G349E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GACTGGAAAGGAGACAAAGTA	0.413000													15	283					0	0	0.539581	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168740	32168740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:32168740C>A	ENST00000375023.3	-	23	4321	c.4183G>T	c.(4183-4185)Gac>Tac	p.D1395Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1395					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1395Y(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCGGGTGGTCAGGGCCACAG	0.637000													23	35					6.00712e-18	8.53393e-18	0.760397	1	0
NCKAP5	344148	broad.mit.edu	37	2	133554252	133554252	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:133554252C>A	ENST00000409261.1	-	12	1231	c.858G>T	c.(856-858)gaG>gaT	p.E286D	NCKAP5_ENST00000409213.1_Missense_Mutation_p.E286D|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E286D|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E286D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	286							protein binding	p.E286D(1)|p.E125D(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTTTCCACCTCTGAAAGCA	0.408000													8	88					0.000673444	0.000721835	0.361761	1	0
OTOA	146183	broad.mit.edu	37	16	21737980	21737980	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:21737980G>T	ENST00000388958.3	+	18	2017		c.e18+1		OTOA_ENST00000286149.4_Splice_Site|OTOA_ENST00000388957.3_Splice_Site|OTOA_ENST00000388956.4_Splice_Site	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin						sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCAGTGCCTGGTAAGAAAACT	0.537000													31	190					2.87052e-16	3.95756e-16	0.812448	1	0
CCDC171	203238	broad.mit.edu	37	9	15745522	15745522	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:15745522A>C	ENST00000380701.3	+	18	2892	c.2564A>C	c.(2563-2565)aAg>aCg	p.K855T	CCDC171_ENST00000297641.3_Missense_Mutation_p.K855T	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	855								p.K855T(2)|p.K122T(2)									GAACATCAAAAGGAGCAGTTG	0.333000													133	416					0	0	0.870114	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906614	84906614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:84906614G>C	ENST00000262424.5	+	10	1222	c.998G>C	c.(997-999)cGc>cCc	p.R333P	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R333P|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R332P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1.					extracellular region|transport vesicle		p.R333P(2)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGCATATGCCGCGCCGCCATC	0.547000													25	148					0	0	0.750413	0	0
SDK1	221935	broad.mit.edu	37	7	4153708	4153708	+	Missense_Mutation	SNP	G	G	T	rs142268038		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:4153708G>T	ENST00000404826.2	+	25	3764	c.3625G>T	c.(3625-3627)Gtg>Ttg	p.V1209L	SDK1_ENST00000389531.3_Missense_Mutation_p.V1209L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1209	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.V1209L(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGAGTCCGTGGGCTACAG	0.587000													7	30					2.0095e-06	2.28623e-06	0.248553	1	0
CLASP1	23332	broad.mit.edu	37	2	122106236	122106236	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:122106236T>A	ENST00000263710.4	-	38	4654	c.4265A>T	c.(4264-4266)cAg>cTg	p.Q1422L	CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1361L|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q1129L|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1362L|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1378L|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1355L|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q1139L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1422	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.Q1422L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATGCACTGCTCCGGGTG	0.587000													13	60					0	0	0.479597	0	0
NAGPA	51172	broad.mit.edu	37	16	5078049	5078049	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:5078049C>A	ENST00000312251.3	-	6	1077	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.R353L	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	353					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.R353L(2)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCCGGGACCCCGCCAGAAGTG	0.687000													6	14					0.0477658	0.0486721	0.307466	1	0
ASTL	431705	broad.mit.edu	37	2	96801117	96801117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:96801117G>C	ENST00000342380.2	-	3	215	c.216C>G	c.(214-216)ttC>ttG	p.F72L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	72					proteolysis		metalloendopeptidase activity|zinc ion binding	p.F72L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCGATGAGGAAGCTGCTCT	0.607000													4	22					0	0	0.217242	0	0
FYCO1	79443	broad.mit.edu	37	3	46021226	46021226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:46021226C>A	ENST00000296137.2	-	4	464	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	FYCO1_ENST00000535325.1_Missense_Mutation_p.G87W	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	87	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.G87W(2)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AAGCGGATCCCATCATTGGCT	0.507000													45	133					1.51926e-22	2.28847e-22	0.870114	1	0
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:203452395C>A	ENST00000343110.2	+	2	210	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P28H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647000													18	46					7.26314e-15	9.6902e-15	0.717897	1	0
IGKV1-33	28933	broad.mit.edu	37	2	89568195	89568195	+	RNA	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:89568195A>T	ENST00000473726.1	-	0	68																											CCAGAGCAGCAGGAGCCCCAG	0.527000													16	63					0	0	0.557998	0	0
GALC	2581	broad.mit.edu	37	14	88407816	88407816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:88407816C>A	ENST00000261304.2	-	15	1863	c.1757G>T	c.(1756-1758)gGt>gTt	p.G586V	GALC_ENST00000393569.2_Missense_Mutation_p.G560V|GALC_ENST00000393568.4_Missense_Mutation_p.G563V|GALC_ENST00000544807.2_Missense_Mutation_p.G530V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	586					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.G586V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATCAAAATACCACCTTTATT	0.358000													40	442					1.23713e-20	1.8226e-20	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	113246706	113246706	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113246706C>A	ENST00000297405.5	-	68	10872	c.10627_splice	c.e68-1	p.G3543_splice	CSMD3_ENST00000352409.3_Splice_Site_p.G3473_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3503_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G3374_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3543						integral to membrane|plasma membrane		p.G3503V(2)|p.G3543V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATATACCCCTGTAAAATG	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	333					8.53417e-09	1.01954e-08	0.769981	1	0
PLCB1	23236	broad.mit.edu	37	20	8770894	8770894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:8770894G>T	ENST00000378641.3	+	31	3884	c.3409G>T	c.(3409-3411)Gat>Tat	p.D1137Y	PLCB1_ENST00000338037.6_Missense_Mutation_p.D1137Y|PLCB1_ENST00000378637.2_Missense_Mutation_p.D1137Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1137					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAGATCCTGGATGAAAAGCC	0.343000													28	108					2.47316e-13	3.23529e-13	0.779181	1	0
REG3A	5068	broad.mit.edu	37	2	79384784	79384784	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:79384784C>A	ENST00000393878.1	-	4	628	c.374G>T	c.(373-375)aGt>aTt	p.S125I	REG3A_ENST00000409839.3_Missense_Mutation_p.S125I|REG3A_ENST00000305165.2_Missense_Mutation_p.S125I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S125I(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCACATCACTGCTACTCCA	0.542000													67	225					1.34568e-36	2.27599e-36	0.870114	1	0
NHSL2	340527	broad.mit.edu	37	X	71360426	71360426	+	Missense_Mutation	SNP	G	G	T	rs140270842		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:71360426G>T	ENST00000373677.1	+	2	3192	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	NHSL2_ENST00000510661.1_Missense_Mutation_p.V779L|NHSL2_ENST00000540800.1_Missense_Mutation_p.V1010L|NHSL2_ENST00000535692.1_Missense_Mutation_p.V644L			F5H593	F5H593_HUMAN	NHS-like 2	1010								p.V1010L(2)|p.V641L(2)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAAACCCAGCGTGCTGTACCT	0.532000													8	17					0.00621372	0.0064666	0.335167	1	0
OR4B1	119765	broad.mit.edu	37	11	48238932	48238932	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:48238932T>C	ENST00000309562.2	+	1	589	c.571T>C	c.(571-573)Ttc>Ctc	p.F191L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F191L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGACACCTTCATGGAGGG	0.453000													19	572					0	0	0.608945	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688809	65688809	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:65688809C>A	ENST00000335257.6	+	9	1151	c.804C>A	c.(802-804)gtC>gtA	p.V268V	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Silent_p.V268V|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CTTCTTCCGTCCGCAGTGCGC	0.552000													8	266					0.000274275	0.000297848	0.307466	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854255	178854255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:178854255G>T	ENST00000367635.3	+	12	1287	c.949G>T	c.(949-951)Gca>Tca	p.A317S	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.A282S|RALGPS2_ENST00000367634.2_Missense_Mutation_p.A317S	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	317					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAAGTGTGGCAGCTGAAGG	0.448000													35	64					6.21074e-16	8.49724e-16	0.859065	1	0
EIF4A2	1974	broad.mit.edu	37	3	186505350	186505350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:186505350G>T	ENST00000323963.5	+	9	1040	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	EIF4A2_ENST00000440191.2_Missense_Mutation_p.V327F|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V231F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	326	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.V326F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTCAAGTCGTGTTCTGATCAC	0.398000			T	BCL6	NHL								34	123					2.68985e-26	4.21737e-26	0.870114	1	0
STK32C	282974	broad.mit.edu	37	10	134040418	134040418	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:134040418G>T	ENST00000368622.1	-	4	555	c.174C>A	c.(172-174)ggC>ggA	p.G58G	STK32C_ENST00000368625.4_Silent_p.G188G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	175							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G188G(2)|p.G175G(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAGGTCCCCGCCCAGTAGCA	0.627000													11	12					0.010729	0.0111441	0.387290	1	0
SOX5	6660	broad.mit.edu	37	12	23999036	23999036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:23999036C>A	ENST00000546136.1	-	2	325	c.323G>T	c.(322-324)gGc>gTc	p.G108V	SOX5_ENST00000309359.1_Missense_Mutation_p.G108V|SOX5_ENST00000545921.1_Missense_Mutation_p.G111V|SOX5_ENST00000441133.2_Missense_Mutation_p.G86V|SOX5_ENST00000381381.2_Missense_Mutation_p.G108V|SOX5_ENST00000541536.1_Missense_Mutation_p.G108V|SOX5_ENST00000451604.2_Missense_Mutation_p.G121V|SOX5_ENST00000541847.1_Missense_Mutation_p.G111V|SOX5_ENST00000537393.1_Missense_Mutation_p.G86V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G121V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGACTCGCCACTCTGTCG	0.498000													15	147					9.16793e-09	1.09161e-08	0.520397	1	0
FAF1	11124	broad.mit.edu	37	1	50941174	50941174	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:50941174C>A	ENST00000396153.2	-	18	2282	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	FAF1_ENST00000545823.1_Missense_Mutation_p.D369Y|FAF1_ENST00000371778.4_Missense_Mutation_p.D611Y	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	611	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.D611Y(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTACTCATCCCATGGAAAT	0.488000													12	581					5.35267e-07	6.18147e-07	0.557998	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565835	33565835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:33565835C>A	ENST00000321505.4	+	1	2015	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T612N|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T612N					KIAA1549-like									p.T612N(4)									TTTCCCAGGACCTCCTCCAGA	0.502000													26	388					7.26314e-15	9.6902e-15	0.717897	1	0
TET1	80312	broad.mit.edu	37	10	70446412	70446412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:70446412G>T	ENST00000373644.4	+	11	5561	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1784					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.K1784N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAAGCGGAAGAATAACTCAA	0.458000													30	284					1.47244e-24	2.28858e-24	0.819951	1	0
UCHL3	7347	broad.mit.edu	37	13	76134927	76134927	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:76134927C>T	ENST00000377595.3	+	3	123	c.93C>T	c.(91-93)ttC>ttT	p.F31F	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.3	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	31					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.F31F(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		ACTGGCAATTCGTTGATGTAT	0.338000													5	197					0	0	0.248553	0	0
SKA2	348235	broad.mit.edu	37	17	57232319	57232319	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:57232319G>A	ENST00000580541.1	-	1	226	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SKA2_ENST00000330137.7_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000437036.2_Silent_p.L42L			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.L42L(2)		lung(4)	4						CCCCTTACCCGAGGCGGTTTA	0.612000													4	116					0	0	0.184627	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858090	149858090	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:149858090C>A	ENST00000369155.2	-	1	142	c.101G>T	c.(100-102)cGc>cTc	p.R34L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	34					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTCTCTTTGCGGCTGCGCTT	0.572000													11	591					0.0931896	0.0945989	0.411799	1	0
RYR2	6262	broad.mit.edu	37	1	237955446	237955446	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:237955446G>T	ENST00000366574.2	+	94	13922	c.13605G>T	c.(13603-13605)acG>acT	p.T4535T	RYR2_ENST00000360064.6_Silent_p.T4541T|RYR2_ENST00000542537.1_Silent_p.T4519T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4535					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T4533T(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTCCCCACGAGAAGTTCAA	0.463000													5	57					0.000602214	0.000648074	0.184627	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376671	75376671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:75376671C>A	ENST00000555647.1	-	8	1132	c.845G>T	c.(844-846)aGg>aTg	p.R282M	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R282M|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R282M|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R251M			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	282	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity	p.R282M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGGAGAAGTCCTAGGAGGCTC	0.642000													6	11					0.0215528	0.0221509	0.217242	1	0
TSIX	9383	broad.mit.edu	37	X	73047408	73047408	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:73047408A>G	ENST00000604411.1	+	0	35369				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAGTAGAAACAGCAGAAAGGA	0.433000													10	14					0	0	0.361761	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564585	66564585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:66564585G>C	ENST00000360242.5	+	6	1300	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	CCDC102B_ENST00000584156.1_Missense_Mutation_p.D395H|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D395H|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D395H	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	395								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGCTTTTGGATAAGAAAAA	0.408000													8	104					0	0	0.307466	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:74899193C>A	ENST00000289575.5	+	8	1380	c.985C>A	c.(985-987)Ccc>Acc	p.P329T	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.P185T|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P307T|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.P102T|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.P213T|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.P102T|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.P74T	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	329					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.P329T(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAAGGACTCTCCCTCTAAGCA	0.557000													59	77					4.13886e-29	6.68441e-29	0.870114	1	0
INSC	387755	broad.mit.edu	37	11	15243085	15243085	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:15243085G>T	ENST00000379554.3	+	8	1069	c.1023G>T	c.(1021-1023)cgG>cgT	p.R341R	INSC_ENST00000528567.1_Silent_p.R294R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Silent_p.R252R|INSC_ENST00000530161.1_Silent_p.R294R|INSC_ENST00000424273.1_Silent_p.R252R|INSC_ENST00000379556.3_Silent_p.R294R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	341					cell differentiation|nervous system development	cytoplasm	binding	p.R341R(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCCACACGGGCTGAGGCTG	0.637000													19	57					2.97696e-44	5.30225e-44	0.870114	1	0
TTLL11	158135	broad.mit.edu	37	9	124751501	124751501	+	Silent	SNP	C	C	G	rs144762491		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:124751501C>G	ENST00000321582.5	-	4	1699	c.1512G>C	c.(1510-1512)acG>acC	p.T504T	TTLL11_ENST00000373776.3_Silent_p.T504T|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	504	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.T504T(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCGGCCTCCCCGTGGGGATGT	0.577000													8	188					0	0	0.435327	0	0
HAS2	3037	broad.mit.edu	37	8	122641133	122641133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:122641133T>A	ENST00000303924.4	-	2	985	c.448A>T	c.(448-450)Aac>Tac	p.N150Y		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	150						integral to plasma membrane	hyaluronan synthase activity	p.N150Y(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGTTGTTCTTCCAGATA	0.438000													34	575					0	0	0.769981	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140559208G>A	ENST00000239444.2	+	1	1838	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672000													4	54					0	0	0.217242	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:43430713G>A	ENST00000446844.3	-	0	954				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493000													86	453					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216143975	216143975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:216143975C>A	ENST00000366943.2	-	36	7335	c.6949G>T	c.(6949-6951)Ggc>Tgc	p.G2317C	USH2A_ENST00000307340.3_Missense_Mutation_p.G2317C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2317	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2317C(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAGTGGGCCCAGAGCACAA	0.453000										HNSCC(13;0.011)			72	142					9.08522e-28	1.44556e-27	0.870114	1	0
OR4A15	81328	broad.mit.edu	37	11	55135664	55135664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:55135664C>A	ENST00000314706.3	+	1	305	c.305C>A	c.(304-306)tCt>tAt	p.S102Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S102Y(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCGTCTATTCTACTGCATTT	0.413000													132	459					1.38722e-55	2.57319e-55	0.870114	1	0
NPY4R	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:47087209C>T	ENST00000374312.1	+	3	845	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPY4R_ENST00000395716.1_Silent_p.L142L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.L142L(2)									GGCATCAGCTCATCATCAACC	0.592000													46	371					0	0	0.870114	0	0
ZP4	57829	broad.mit.edu	37	1	238051764	238051764	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:238051764C>A	ENST00000366570.4	-	4	605	c.447G>T	c.(445-447)cgG>cgT	p.R149R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	149	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R149R(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCAGTCTGTCCCGTGCTGGGA	0.473000													83	330					6.50375e-52	1.19198e-51	0.870114	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168457	142168457	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142168457G>T	ENST00000454561.2	-	0	466																											GCTATCATTAGGGAACTGGAG	0.542000													9	209					7.45023e-12	9.4805e-12	0.592651	1	0
OR52B4	143496	broad.mit.edu	37	11	4389399	4389399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:4389399C>A	ENST00000408920.2	-	1	217	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCTGTTCCCAAGAAGGGCG	0.522000													36	294					2.05212e-20	3.00679e-20	0.812448	1	0
SPEF2	79925	broad.mit.edu	37	5	35793323	35793323	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:35793323G>T	ENST00000440995.2	+	32	4602	c.4602G>T	c.(4600-4602)ctG>ctT	p.L1534L	SPEF2_ENST00000356031.3_Silent_p.L1539L|SPEF2_ENST00000303129.4_Silent_p.L336L|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1539					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.L1539L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGTTCCTGTTAGTAACCT	0.448000													91	396					1.62402e-62	3.11465e-62	0.870114	1	0
CPED1	79974	broad.mit.edu	37	7	120911454	120911454	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:120911454A>T	ENST00000310396.5	+	22	3305	c.2838A>T	c.(2836-2838)ctA>ctT	p.L946L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.L946L(1)|p.Q947K(1)									AAGAGTTTCTACAGGGGAAGT	0.328000													213	424					0	0	0.870114	0	0
USP6	9098	broad.mit.edu	37	17	5045714	5045714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:5045714G>A	ENST00000574788.1	+	25	3965	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	USP6_ENST00000250066.6_Missense_Mutation_p.G579R|USP6_ENST00000304328.5_Missense_Mutation_p.G262R|USP6_ENST00000332776.4_Missense_Mutation_p.G579R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	579					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G579R(4)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTATGAAGGGGCATATGGC	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								7	17					0	0	0.435327	0	0
SPN	6693	broad.mit.edu	37	16	29675148	29675148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:29675148G>T	ENST00000360121.3	+	2	191	c.99G>T	c.(97-99)ttG>ttT	p.L33F	SPN_ENST00000395389.2_Missense_Mutation_p.L33F|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	33					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	p.L33F(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAGAGCCTTTGGTCTCTACTA	0.577000													17	81					1.2644e-06	1.44927e-06	0.592651	1	0
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:40468681C>T	ENST00000287598.6	+	5	583	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.R144C	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R130C(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				77	169					0	0	0.870114	0	0
PRKD1	5587	broad.mit.edu	37	14	30133065	30133065	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:30133065C>A	ENST00000331968.5	-	4	765	c.535_splice	c.e4-1	p.G179_splice	PRKD1_ENST00000415220.2_Splice_Site_p.G179_splice	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	179					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.G179V(4)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGACCACACCCTGGAAAGGG	0.358000													54	163					9.87224e-16	1.34213e-15	0.870114	1	0
HEPHL1	341208	broad.mit.edu	37	11	93821930	93821930	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:93821930G>C	ENST00000315765.9	+	12	2098	c.2090G>C	c.(2089-2091)aGg>aCg	p.R697T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	697	Plastocyanin-like 4.			R -> G (in Ref. 3; CAE46009).	copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R701T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGTATTTTTAGGGTGTTTTGT	0.488000													4	82					0	0	0.217242	0	0
MRPL30	51263	broad.mit.edu	37	2	99804653	99804653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:99804653G>T	ENST00000338148.3	+	3	263	c.65G>T	c.(64-66)gGt>gTt	p.G22V	C2orf15_ENST00000512183.2_Missense_Mutation_p.G22V|MRPL30_ENST00000410042.1_Missense_Mutation_p.G22V|MRPL30_ENST00000409145.1_Missense_Mutation_p.G22V|MRPL30_ENST00000465432.1_Intron	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	22					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G22V(2)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAAGGTGTGGAGTCT	0.313000													18	77					7.4402e-23	1.12864e-22	0.667858	1	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162774	33162774	+	RNA	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:33162774A>C	ENST00000510327.1	-	0	346																											AGTCTCCTGGAAGAGCAGTTC	0.453000													14	56					0	0	0.435327	0	0
NEDD4	4734	broad.mit.edu	37	15	56140724	56140724	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:56140724T>C	ENST00000508342.1	-	12	3034	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S	NEDD4_ENST00000506154.1_Missense_Mutation_p.N896S|NEDD4_ENST00000435532.3_Missense_Mutation_p.N493S|NEDD4_ENST00000338963.2_Missense_Mutation_p.N840S			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	912	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.N493S(2)|p.N840S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATACTGTGATTTATGTAGAA	0.308000													21	63					0	0	0.706142	0	0
RXRG	6258	broad.mit.edu	37	1	165378913	165378913	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:165378913G>A	ENST00000359842.5	-	7	1230	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	310	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGGCAATCAGCAATTCATTC	0.502000													7	72					0	0	0.335167	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408635	80408635	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:80408635T>C	ENST00000265080.4	+	14	2112	c.2045T>C	c.(2044-2046)cTc>cCc	p.L682P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	682	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L682P(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGGGAAACTCTCCGACATA	0.493000													109	358					0	0	0.870114	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089158	113089158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:113089158C>G	ENST00000409871.1	+	12	3064	c.2663C>G	c.(2662-2664)cCt>cGt	p.P888R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P888R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	888							nucleic acid binding|zinc ion binding	p.P888R(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTCCAGTACCTTTACCTAAA	0.403000													20	69					0	0	0.608945	0	0
EPHA5	2044	broad.mit.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K|EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.Q730K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATCAAACTGTCCCATGATA	0.388000										TSP Lung(17;0.13)			140	582					9.97597e-95	1.99149e-94	0.870114	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118006108	118006108	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:118006108C>A	ENST00000310754.4	-	1	628	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	148	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D148Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTTGGGTCTGACAGGCAG	0.383000													32	184					2.38352e-08	2.81927e-08	0.796494	1	0
PSD	5662	broad.mit.edu	37	10	104173662	104173662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:104173662C>G	ENST00000020673.5	-	5	1943	c.1417G>C	c.(1417-1419)Gct>Cct	p.A473P	PSD_ENST00000406432.1_Missense_Mutation_p.A473P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	473					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.A258P(2)|p.A473P(2)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCATCAGCAGCAGAGCTGGTA	0.662000													8	13					0	0	0.435327	0	0
LYST	1130	broad.mit.edu	37	1	235973688	235973688	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:235973688T>C	ENST00000389794.3	-	5	604	c.430A>G	c.(430-432)Aga>Gga	p.R144G	LYST_ENST00000536965.1_Missense_Mutation_p.R144G|LYST_ENST00000389793.2_Missense_Mutation_p.R144G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	144					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R144G(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGCTGTCGTCTGCTTTTTCGA	0.398000													26	276					0	0	0.760397	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			105	145					0	0	0.870114	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393555	136393555	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:136393555A>T	ENST00000264160.4	+	10	1164	c.794A>T	c.(793-795)aAa>aTa	p.K265I	R3HDM1_ENST00000410054.1_Missense_Mutation_p.K209I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.K221I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.K221I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.K265I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	265							nucleic acid binding	p.K265I(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCTTTGACAAAGATGATAAC	0.323000													42	141					0	0	0.870114	0	0
COL5A2	1290	broad.mit.edu	37	2	189904126	189904126	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:189904126G>A	ENST00000374866.3	-	51	4071	c.3797C>T	c.(3796-3798)cCa>cTa	p.P1266L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1266L(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGAACCCCTGGGTCCGTTTT	0.517000													24	48					0	0	0.693898	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787877	27787877	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:27787877T>C	ENST00000318304.8	+	4	382	c.99T>C	c.(97-99)ttT>ttC	p.F33F	PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000228425.6_Silent_p.F33F|PPFIBP1_ENST00000545334.1_Silent_p.F33F|PPFIBP1_ENST00000542629.1_Silent_p.F33F|PPFIBP1_ENST00000535047.1_Silent_p.F33F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	33					cell adhesion	plasma membrane	protein binding	p.F33F(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATGGGATTTTTGATTGCCAAT	0.418000													6	255					0	0	0.278610	0	0
INTS2	57508	broad.mit.edu	37	17	59962347	59962347	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:59962347G>A	ENST00000444766.3	-	16	2103	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	INTS2_ENST00000251334.6_Silent_p.P668P	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	676					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.P676P(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AATATGATTTGGGCTTTCTTT	0.353000													12	39					0	0	0.457914	0	0
TAF1L	138474	broad.mit.edu	37	9	32633786	32633786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:32633786C>A	ENST00000242310.4	-	1	1881	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	598					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCGAAGACCCTGTTGCTTG	0.478000													137	331					1.65771e-47	2.98722e-47	0.870114	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48143570	48143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:48143570C>A	ENST00000405493.2	-	9	931	c.722G>T	c.(721-723)tGg>tTg	p.W241L	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.W241L|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.W283L|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.W283L	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	241					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.W241L(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GATAATGTACCACGAAGTGCC	0.592000													27	31					1.39806e-14	1.85601e-14	0.729181	1	0
KCNK18	338567	broad.mit.edu	37	10	118960761	118960761	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:118960761C>T	ENST00000334549.1	+	2	315	c.315C>T	c.(313-315)agC>agT	p.S105S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	105						integral to membrane|plasma membrane		p.S105S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCTTCCTGAGCTCGCTCTTTT	0.557000													55	74					0	0	0.870114	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444598	49444598	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:49444598T>A	ENST00000374201.3	-	9	1224		c.e9-2		FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.?(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTGGAAAACTGGAGGAAAAC	0.552000													11	92					0	0	0.457914	0	0
KCTD3	51133	broad.mit.edu	37	1	215759874	215759874	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:215759874G>C	ENST00000259154.4	+	9	957	c.663G>C	c.(661-663)acG>acC	p.T221T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	221						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.T221T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGTGTTTACGAGCCCATATT	0.443000													95	407					0	0	0.870114	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140712339G>T	ENST00000517417.1	+	1	2088	c.2088G>T	c.(2086-2088)gcG>gcT	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1												p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672000													24	67					3.62531e-18	5.17076e-18	0.796494	1	0
TBX22	50945	broad.mit.edu	37	X	79277847	79277847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:79277847C>A	ENST00000373294.5	+	1	107	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.P27T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	27					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P27T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAAGACCCAATACAGGC	0.607000													10	16					1.76689e-08	2.09222e-08	0.335167	1	0
ITIH1	3697	broad.mit.edu	37	3	52818397	52818397	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:52818397C>T	ENST00000273283.2	+	11	1335	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	ITIH1_ENST00000540715.1_Silent_p.H295H|ITIH1_ENST00000542827.1_Silent_p.H437H|ITIH1_ENST00000537050.1_Silent_p.H149H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	437	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.H437H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTCGGCCACAATGTGGACT	0.577000													26	27					0	0	0.667858	0	0
CXorf61	203413	broad.mit.edu	37	X	115593113	115593113	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:115593113G>T	ENST00000371894.4	-	2	283	c.137C>A	c.(136-138)tCt>tAt	p.S46Y		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	46						integral to membrane|plasma membrane		p.S46Y(2)		breast(1)|large_intestine(3)|lung(8)	12						AATTAACCCAGAAGAAGAGGG	0.398000													163	169					1.31883e-95	2.63766e-95	0.870114	1	0
SMEK1	55671	broad.mit.edu	37	14	91927780	91927780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:91927780C>A	ENST00000554684.1	-	14	2793	c.2297G>T	c.(2296-2298)gGc>gTc	p.G766V	SMEK1_ENST00000337238.4_Missense_Mutation_p.G766V|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554943.1_Missense_Mutation_p.G779V|SMEK1_ENST00000428424.2_Missense_Mutation_p.G540V|SMEK1_ENST00000555462.1_Missense_Mutation_p.G540V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	779						microtubule organizing center|nucleus	protein binding	p.G779V(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAGGAGAGCCTGGAGATCC	0.488000													50	351					2.41709e-19	3.48919e-19	0.870114	1	0
OR5K3	403277	broad.mit.edu	37	3	98110266	98110266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:98110266C>A	ENST00000383695.1	+	1	757	c.757C>A	c.(757-759)Ctt>Att	p.L253I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L253I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGATTCCCTTCTCTTCAT	0.353000													163	614					9.92674e-61	1.88696e-60	0.870114	1	0
TCF7L2	6934	broad.mit.edu	37	10	114918424	114918424	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:114918424A>T	ENST00000545257.1	+	13	1825		c.e13-1		TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000534894.1_Splice_Site|TCF7L2_ENST00000538897.1_Splice_Site|TCF7L2_ENST00000542695.1_Splice_Site|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000369397.4_Splice_Site|TCF7L2_ENST00000355995.4_Splice_Site|TCF7L2_ENST00000352065.5_Splice_Site			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTTTTTTTTCAGAACACAGCG	0.353000			T	VTI1A	colorectal								37	259					0	0	0.859065	0	0
TRAV4	28689	broad.mit.edu	37	14	22205254	22205254	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22205254C>A	ENST00000390426.2	+	0	385																											ACTACTGCCTCGTGGGTGACA	0.557000													12	46					0.0285812	0.0293463	0.500413	1	0
PUM2	23369	broad.mit.edu	37	2	20482749	20482749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:20482749C>T	ENST00000361078.2	-	11	1701	c.1679G>A	c.(1678-1680)gGt>gAt	p.G560D	PUM2_ENST00000536417.1_Missense_Mutation_p.G504D|PUM2_ENST00000338086.5_Missense_Mutation_p.G560D|PUM2_ENST00000403432.1_Missense_Mutation_p.G560D|PUM2_ENST00000319801.5_Missense_Mutation_p.G560D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	560	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.G560D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATAGCAGCACCCAAAGAGTT	0.428000													20	84					0	0	0.624587	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767848	54767848	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:54767848G>C	ENST00000546970.1	-	5	559	c.270C>G	c.(268-270)acC>acG	p.T90T	ZNF385A_ENST00000551771.1_Silent_p.T90T|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000394313.2_Silent_p.T90T|ZNF385A_ENST00000352268.6_Silent_p.T110T|ZNF385A_ENST00000551109.1_Silent_p.T90T|ZNF385A_ENST00000338010.5_Silent_p.T110T|RP11-753H16.3_ENST00000550474.1_RNA			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.T90T(4)|p.T110T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCTGCCTCTGGTCTTGGCAG	0.597000													12	22					0	0	0.557998	0	0
PHLDA1	22822	broad.mit.edu	37	12	76424788	76424788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:76424788C>A	ENST00000266671.5	-	1	2924	c.734G>T	c.(733-735)cGc>cTc	p.R245L	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.R104L			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	245	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.R245L(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTTGCCCTTGCGCTCCACACA	0.612000													39	39					4.14194e-30	6.75029e-30	0.859065	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75932301	75932301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:75932301T>A	ENST00000262207.4	+	12	1699	c.1231T>A	c.(1231-1233)Tca>Aca	p.S411T	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S223T|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S225T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	411	LCCL 2.					extracellular region		p.S411T(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAGCCTGCTTCACATTGCCC	0.413000													17	261					0	0	0.592651	0	0
TKTL2	84076	broad.mit.edu	37	4	164393898	164393898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:164393898G>T	ENST00000280605.3	-	1	1149	c.989C>A	c.(988-990)gCt>gAt	p.A330D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	330						cytoplasm	metal ion binding|transketolase activity	p.A330D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				gcccagtttagccagagccaa	0.428000													43	195					1.32667e-27	2.10464e-27	0.870114	1	0
HOXA1	3198	broad.mit.edu	37	7	27135327	27135327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:27135327G>T	ENST00000343060.4	-	1	266	c.205C>A	c.(205-207)Cac>Aac	p.H69N	HOXA1_ENST00000355633.5_Missense_Mutation_p.H69N|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	69	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H69N(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggtggtggtggtggtggtgg	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	15					0.0581538	0.0592011	0.335167	1	0
SZT2	23334	broad.mit.edu	37	1	43909130	43909130	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:43909130T>C	ENST00000562955.1	+	60	8436	c.8436T>C	c.(8434-8436)tcT>tcC	p.S2812S	SZT2_ENST00000372442.1_Silent_p.S1970S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2869						peroxisome		p.S1970S(4)|p.S2812S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGAGACCTCTGGACCCCCTG	0.612000													7	24					0	0	0.278610	0	0
OR6C1	390321	broad.mit.edu	37	12	55714510	55714510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:55714510C>A	ENST00000379668.2	+	1	165	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43I(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAACCTGACCCTTATCACAAT	0.423000													66	85					2.23399e-28	3.58641e-28	0.870114	1	0
PKNOX2	63876	broad.mit.edu	37	11	125299921	125299921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:125299921C>A	ENST00000298282.9	+	12	1347	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.A295D	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	359						nucleus	sequence-specific DNA binding transcription factor activity	p.A359D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGATCCTGCCCCCAAAGCC	0.607000													25	219					3.73148e-12	4.79953e-12	0.717897	1	0
CTNND2	1501	broad.mit.edu	37	5	11346694	11346694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:11346694C>A	ENST00000304623.8	-	9	1607	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V	CTNND2_ENST00000511377.1_Missense_Mutation_p.G382V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G136V|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.G40V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.G473V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCTGGCTGCCTGTGCGCTG	0.617000													11	38					6.40141e-05	7.06589e-05	0.387290	1	0
RUVBL1	8607	broad.mit.edu	37	3	127842427	127842427	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:127842427C>A	ENST00000322623.5	-	1	240	c.141_splice	c.e1+1	p.E47_splice	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Splice_Site_p.E47_splice	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	47					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.E47D(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGGCCACACCTCTCGCGCGT	0.706000													12	26					0.000978159	0.00104636	0.387290	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159297	18159297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:18159297G>A	ENST00000396275.2	+	3	909	c.548G>A	c.(547-549)tGg>tAg	p.W183*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W183*(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACAATCGCGTGGCTGGTTTTT	0.512000													20	173					0	0	0.624587	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266036	89266036	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:89266036G>T	ENST00000464162.1	-	0	124																											ATGCAGACAGGGAGGATGGAG	0.468000													73	245					9.27813e-46	1.66079e-45	0.870114	1	0
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:220752848G>A	ENST00000366918.4	+	2	801	c.204G>A	c.(202-204)aaG>aaA	p.K68K	MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366917.4_Silent_p.K68K			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.K68K(2)|p.K68N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAATAGGGAAGGGAAATTTTG	0.433000													11	228					0	0	0.479597	0	0
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:51143400G>T	ENST00000414786.2	+	16	2090	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G	SHANK3_ENST00000445220.2_Silent_p.G636G|SHANK3_ENST00000262795.3_Silent_p.G651G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	651								p.G651G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGAACGGGGTGAACGTGG	0.632000													6	26					0.00621372	0.0064666	0.335167	1	0
SLC25A13	10165	broad.mit.edu	37	7	95750587	95750587	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:95750587T>A	ENST00000416240.2	-	18	2137	c.1947A>T	c.(1945-1947)gcA>gcT	p.A649A	SLC25A13_ENST00000542654.1_Silent_p.A540A|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000265631.5_Silent_p.A648A	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	648					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.A648A(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTTCAATCCCTGCAAATGTAG	0.498000													13	386					0	0	0.457914	0	0
LAMC3	10319	broad.mit.edu	37	9	133914297	133914297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:133914297G>T	ENST00000361069.4	+	5	1156	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	341	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity	p.E341D(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGATCGGGAGCTCTTCCGCA	0.617000													8	96					0.000978159	0.00104636	0.387290	1	0
OR52K1	390036	broad.mit.edu	37	11	4510989	4510989	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:4510989C>G	ENST00000307632.3	+	1	881	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTTTCCCACCCATGGTCAA	0.463000													126	522					0	0	0.870114	0	0
CSMD2	114784	broad.mit.edu	37	1	34006151	34006151	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:34006151C>A	ENST00000373381.4	-	60	9781	c.9605G>T	c.(9604-9606)tGg>tTg	p.W3202L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3178	Sushi 26.					integral to membrane|plasma membrane	protein binding	p.W3058L(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCGGTCCAGGACCCATT	0.577000													13	161					1.49906e-05	1.67359e-05	0.457914	1	0
PHF14	9678	broad.mit.edu	37	7	11068427	11068427	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:11068427A>T	ENST00000403050.3	+	7	1889	c.1437A>T	c.(1435-1437)tcA>tcT	p.S479S	PHF14_ENST00000445996.2_Silent_p.S194S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	479							zinc ion binding	p.S479S(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCTGCTTTCAGAGGCAGCGG	0.433000													15	136					0	0	0.654019	0	0
C10orf82	143379	broad.mit.edu	37	10	118425181	118425181	+	Missense_Mutation	SNP	G	G	T	rs138140121	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:118425181G>T	ENST00000369210.3	-	3	266	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	C10orf82_ENST00000588184.1_Missense_Mutation_p.S71Y	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	71								p.S71Y(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CGTCTCCTCGGAGTTGACAGG	0.567000													18	40					6.44725e-10	7.85074e-10	0.624587	1	0
SLC6A19	340024	broad.mit.edu	37	5	1212589	1212589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:1212589C>T	ENST00000304460.10	+	4	709	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	218					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T218I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCGAGACCACCGGGAAG	0.672000													9	43					0	0	0.335167	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815927	106815927	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:106815927C>G	ENST00000390615.2	-	0	225																											GCCATAGCTACTGAAGGTGAA	0.577000													7	98					0	0	0.278610	0	0
TTBK1	84630	broad.mit.edu	37	6	43225570	43225570	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:43225570G>A	ENST00000259750.4	+	10	965	c.882G>A	c.(880-882)gaG>gaA	p.E294E	TTBK1_ENST00000304139.5_Silent_p.E243E	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	294	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E294E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CAGTGTTTGAGAACAGCATGA	0.602000													4	118					0	0	0.248553	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630332	51630332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51630332G>T	ENST00000440804.3	+	4	861	c.794G>T	c.(793-795)gGc>gTc	p.G265V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G265V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	265	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.G265V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCCCAGAGGGCCAGTCTCTG	0.542000													50	86					1.40369e-38	2.41209e-38	0.870114	1	0
EMILIN2	84034	broad.mit.edu	37	18	2891215	2891215	+	Nonsense_Mutation	SNP	G	G	T	rs150535335	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:2891215G>T	ENST00000254528.3	+	4	1249	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	364					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.G364*(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGCTACCTGGGAGTGATAGA	0.522000													12	39					0.000219431	0.000239745	0.457914	1	0
YARS2	51067	broad.mit.edu	37	12	32908775	32908775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:32908775C>A	ENST00000324868.8	-	1	61	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	12					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	p.G12C(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GACCACCGGCCCCAGGAAAAG	0.612000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	19					1.3612e-06	1.55359e-06	0.479597	1	0
CD244	51744	broad.mit.edu	37	1	160808305	160808305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:160808305G>T	ENST00000368034.4	-	5	947	c.770C>A	c.(769-771)aCc>aAc	p.T257N	CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Missense_Mutation_p.T257N|CD244_ENST00000322302.7_Missense_Mutation_p.T165N|CD244_ENST00000368033.3_Missense_Mutation_p.T262N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	262					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.T257N(2)|p.T262N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTGGGACTGGTCTCTGAGGG	0.488000													54	142					1.41401e-22	2.13748e-22	0.870114	1	0
ULK4	54986	broad.mit.edu	37	3	41860964	41860964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:41860964G>T	ENST00000301831.4	-	19	2261	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	600							ATP binding|protein serine/threonine kinase activity	p.A600D(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAGGGAACAGCCCAGCACTC	0.438000													29	338					3.90053e-15	5.24301e-15	0.760397	1	0
GALNT3	2591	broad.mit.edu	37	2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	545	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383000													16	513					0	0	0.575678	0	0
IGSF10	285313	broad.mit.edu	37	3	151164627	151164627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:151164627C>A	ENST00000282466.3	-	4	3141	c.3142G>T	c.(3142-3144)Gaa>Taa	p.E1048*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1048					cell differentiation|multicellular organismal development|ossification	extracellular region		p.E1048*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCTTTTTTCAGAAGAACCT	0.493000													113	274					2.77834e-61	5.31896e-61	0.870114	1	0
SEC31A	22872	broad.mit.edu	37	4	83740390	83740390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:83740390G>T	ENST00000432794.1	-	28	3702	c.3539C>A	c.(3538-3540)aCc>aAc	p.T1180N	SEC31A_ENST00000443462.2_Missense_Mutation_p.T1147N|SEC31A_ENST00000505984.1_Missense_Mutation_p.T1113N|SEC31A_ENST00000264405.5_Missense_Mutation_p.T916N|SEC31A_ENST00000326950.5_Missense_Mutation_p.T1128N|SEC31A_ENST00000348405.4_Missense_Mutation_p.T1128N|SEC31A_ENST00000448323.1_Missense_Mutation_p.T1167N|SEC31A_ENST00000311785.7_Missense_Mutation_p.T1053N|SEC31A_ENST00000505472.1_Missense_Mutation_p.T1198N|SEC31A_ENST00000500777.2_Missense_Mutation_p.T1014N|SEC31A_ENST00000509142.1_Missense_Mutation_p.T1053N|SEC31A_ENST00000508502.1_Missense_Mutation_p.T1152N|SEC31A_ENST00000355196.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000513858.1_Missense_Mutation_p.T1014N|SEC31A_ENST00000395310.2_Missense_Mutation_p.T1167N			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1167					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.T1167N(2)|p.T1180N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TAAACCACTGGTGATTGTTGG	0.393000													59	304					2.01178e-46	3.61313e-46	0.870114	1	0
LGI3	203190	broad.mit.edu	37	8	22005801	22005801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:22005801C>A	ENST00000306317.2	-	8	1808	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.E483*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	507					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.E507*(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACAGCCAGCTCCTGGAACCGT	0.612000													5	21					3.59834e-05	3.98003e-05	0.217242	1	0
EBF2	64641	broad.mit.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:25744284C>G	ENST00000520164.1	-	10	1533	c.996G>C	c.(994-996)agG>agC	p.R332S	EBF2_ENST00000535548.1_Missense_Mutation_p.R63S|EBF2_ENST00000408929.3_Missense_Mutation_p.R184S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.R332S(5)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAAATGAACCTTCCTGGGG	0.483000													15	71					0	0	0.520397	0	0
ASPM	259266	broad.mit.edu	37	1	197070066	197070066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:197070066T>C	ENST00000367409.4	-	18	8571	c.8315A>G	c.(8314-8316)cAa>cGa	p.Q2772R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2772					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2772R(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGTGCAGATTGGTTAACAAT	0.383000													34	257					0	0	0.819951	0	0
LHX9	56956	broad.mit.edu	37	1	197890482	197890482	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:197890482C>A	ENST00000367390.3	+	4	426	c.399C>A	c.(397-399)gcC>gcA	p.A133A	LHX9_ENST00000367387.4_Silent_p.A142A|LHX9_ENST00000337020.2_Silent_p.A142A|LHX9_ENST00000367391.1_Silent_p.A133A|LHX9_ENST00000561173.1_Silent_p.A148A	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	142	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.A133A(2)|p.A142A(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCATTTCCGCCTCGGAGATGG	0.572000													12	72					2.61681e-11	3.27942e-11	0.457914	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356183	22356183	+	RNA	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22356183G>C	ENST00000390437.2	+	0	147																											TGTGGCTTCAGTTGAGCTGTG	0.363000													23	93					0	0	0.717897	0	0
GPR98	84059	broad.mit.edu	37	5	89986703	89986703	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:89986703G>T	ENST00000405460.2	+	31	6892	c.6796G>T	c.(6796-6798)Ggc>Tgc	p.G2266C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2266					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G2266C(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGACACTCGGCAATGTTAC	0.458000													7	34					0.00198382	0.00209707	0.248553	1	0
NETO1	81832	broad.mit.edu	37	18	70423369	70423369	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:70423369G>T	ENST00000327305.6	-	8	1539	c.882C>A	c.(880-882)ggC>ggA	p.G294G	NETO1_ENST00000299430.2_Silent_p.G293G|NETO1_ENST00000583169.1_Silent_p.G294G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	294	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G294G(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATGTGTTGCCTTCACAAG	0.343000													90	298					8.2166e-39	1.41647e-38	0.870114	1	0
NBAS	51594	broad.mit.edu	37	2	15417226	15417226	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:15417226C>A	ENST00000281513.5	-	43	5164		c.e43-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence									p.?(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTGGACAAACTGAAATTAAG	0.358000													10	79					0.000151284	0.000165965	0.435327	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:40702836C>T	ENST00000356699.5	+	4	522	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L165L(4)|p.L165M(2)									TCCTCAGGATCTGGCCTCCAC	0.587000													86	418					0	0	0.870114	0	0
APOB	338	broad.mit.edu	37	2	21245902	21245902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:21245902G>T	ENST00000233242.1	-	18	2744	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	873					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L873M(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGCCACCAGTTCAGCCTGC	0.473000													10	103					9.31168e-06	1.0483e-05	0.435327	1	0
COBL	23242	broad.mit.edu	37	7	51096651	51096651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:51096651C>A	ENST00000395542.2	-	12	2572	c.2388G>T	c.(2386-2388)aaG>aaT	p.K796N	COBL_ENST00000265136.7_Missense_Mutation_p.K714N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	714								p.K714N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCATCTCTGACTTTGGAGGAA	0.522000													42	70					1.51926e-22	2.28847e-22	0.870114	1	0
YTHDF2	51441	broad.mit.edu	37	1	29070324	29070324	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:29070324C>G	ENST00000373812.3	+	4	1904	c.1542C>G	c.(1540-1542)cgC>cgG	p.R514R	YTHDF2_ENST00000541996.1_Silent_p.R464R|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Silent_p.R514R	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	514	YTH.				humoral immune response			p.R514R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GACACATTCGCCTAGAGAACA	0.478000													10	95					0	0	0.387290	0	0
MX2	4600	broad.mit.edu	37	21	42771258	42771258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:42771258C>T	ENST00000330714.3	+	10	1592	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	470					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.Q470*(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACTAATACCCAAAAAGGTAA	0.443000													10	109					0	0	0.435327	0	0
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612000													19	200					0	0	0.575678	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:77745831G>A	ENST00000409088.3	-	3	1578	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	LRRTM4_ENST00000409884.1_Silent_p.T388T|LRRTM4_ENST00000409911.1_Silent_p.T389T|LRRTM4_ENST00000409093.1_Silent_p.T388T|LRRTM4_ENST00000409282.1_Silent_p.T389T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388						integral to membrane		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473000													16	58					0	0	0.575678	0	0
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:31810643C>T	ENST00000446923.2	+	7	2723	c.2332C>T	c.(2332-2334)Cca>Tca	p.P778S	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.P794S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P795S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P727S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P774S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	794					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P794S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGTAATCCCACCAAGTGC	0.453000													113	358					0	0	0.870114	0	0
NIPAL3	57185	broad.mit.edu	37	1	24785406	24785406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:24785406G>T	ENST00000003912.3	+	10	1271	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	NIPAL3_ENST00000374399.4_Missense_Mutation_p.D268Y|NIPAL3_ENST00000339255.2_Missense_Mutation_p.D268Y			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	268						integral to membrane		p.D268Y(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						ACAGATGTACGACTCCTCTTT	0.468000													59	233					6.88731e-43	1.21262e-42	0.870114	1	0
FLG	2312	broad.mit.edu	37	1	152285480	152285480	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152285480G>C	ENST00000368799.1	-	3	1917	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	628	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q628E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTGACTGTCACTG	0.567000									Ichthyosis				104	230					0	0	0.870114	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130340820	130340820	+	Missense_Mutation	SNP	G	G	A	rs147190472		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:130340820G>A	ENST00000299164.2	+	6	1726	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	576	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G576R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTAGCCTCCGGAAAGAGCTT	0.602000													6	104					0	0	0.217242	0	0
CYP4F3	4051	broad.mit.edu	37	19	15759996	15759996	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:15759996G>T	ENST00000221307.7	+	6	600	c.552G>T	c.(550-552)gaG>gaT	p.E184D	CYP4F3_ENST00000586182.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.E184D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	184				EGS -> KGY (in Ref. 3; AAC08589).	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.E184D(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCTCAGAGGGTAGTGCCC	0.557000													55	166					4.10029e-35	6.87006e-35	0.870114	1	0
TNC	3371	broad.mit.edu	37	9	117826978	117826978	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:117826978A>C	ENST00000350763.4	-	11	3846	c.3435T>G	c.(3433-3435)taT>taG	p.Y1145*	TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Nonsense_Mutation_p.Y1145*|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Nonsense_Mutation_p.Y1145*|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1145	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.Y1145*(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCACCCCATAGATGGAGA	0.537000													65	571					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	216496873	216496873	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:216496873G>T	ENST00000366943.2	-	8	1879	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	USH2A_ENST00000307340.3_Missense_Mutation_p.T498N|USH2A_ENST00000366942.3_Missense_Mutation_p.T498N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	498	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T498N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTAACAGCAGTCTCAGTTGT	0.368000										HNSCC(13;0.011)			117	318					5.787e-82	1.14251e-81	0.870114	1	0
TXK	7294	broad.mit.edu	37	4	48114498	48114498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:48114498C>T	ENST00000264316.4	-	4	291	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R69Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAGTGGCTTTCGTTTTGACGG	0.433000													16	304					0	0	0.639603	0	0
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:26688465G>C	ENST00000436292.1	-	7	1372	c.1252C>G	c.(1252-1254)Cgc>Ggc	p.R418G	ZNF683_ENST00000349618.3_Missense_Mutation_p.R398G|ZNF683_ENST00000403843.1_Missense_Mutation_p.R418G|ZNF683_ENST00000374204.1_Missense_Mutation_p.R398G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R398G(2)|p.R403G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAGTGCAGGCGCAGGTGGGTC	0.637000													10	33					0	0	0.435327	0	0
KDM3A	55818	broad.mit.edu	37	2	86718115	86718115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:86718115C>T	ENST00000409556.1	+	25	4050	c.3685C>T	c.(3685-3687)Caa>Taa	p.Q1229*	KDM3A_ENST00000312912.5_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000542128.1_Nonsense_Mutation_p.Q1177*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1229	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q1229*(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTATGGAGTTCAAGGCTGGGC	0.423000													58	520					0	0	0.870114	0	0
ELTD1	64123	broad.mit.edu	37	1	79402013	79402013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:79402013A>T	ENST00000370742.3	-	7	907	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	282					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F282I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTCTTTGGAAATATATTTATG	0.279000													29	232					0	0	0.812448	0	0
OR2T1	26696	broad.mit.edu	37	1	248569631	248569631	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248569631C>G	ENST00000366474.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCCTCCTCAGCCACC	0.438000													15	574					0	0	0.520397	0	0
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378000													33	74					0	0	0.834066	0	0
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:126173069G>A	ENST00000339582.2	-	9	3175	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	GRM8_ENST00000358373.3_Silent_p.T789T|GRM8_ENST00000444921.2_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATGCAGGTGGTATACATGG	0.408000										HNSCC(24;0.065)			17	193					0	0	0.592651	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897071	29897071	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:29897071C>T	ENST00000308713.5	-	8	1736		c.e8-1		SEZ6L2_ENST00000537485.1_Splice_Site|SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.?(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCATCAGCCTGGGATGGAC	0.557000													3	40					0	0	0.184627	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757446	75757446	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:75757446G>T	ENST00000274364.6	+	2	395	c.98G>T	c.(97-99)cGg>cTg	p.R33L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	33					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.R33L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGAGGAGGCGGCAGAACATT	0.423000													64	247					1.36236e-49	2.47577e-49	0.870114	1	0
USP9X	8239	broad.mit.edu	37	X	41043661	41043661	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:41043661C>T	ENST00000324545.7	+	23	3924	c.3291C>T	c.(3289-3291)gcC>gcT	p.A1097A	USP9X_ENST00000378308.2_Silent_p.A1097A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1097					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.A1090A(2)|p.A1097A(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTATGCCTTGTTAATGC	0.398000													26	55					0	0	0.729181	0	0
HDAC4	9759	broad.mit.edu	37	2	240066294	240066294	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:240066294G>A	ENST00000345617.3	-	8	1641	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.P253S|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	284	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P284S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACATCCAACGGACGCTTTTTT	0.577000													12	39					0	0	0.479597	0	0
SOX7	83595	broad.mit.edu	37	8	10690446	10690446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:10690446C>A	ENST00000554914.1	-	3	268	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	PINX1_ENST00000520018.2_5'UTR|PINX1_ENST00000426190.2_Missense_Mutation_p.V58L|PINX1_ENST00000519088.1_Missense_Mutation_p.V60L|SOX7_ENST00000553390.1_Missense_Mutation_p.V60L|PINX1_ENST00000314787.3_Missense_Mutation_p.V60L			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	0					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.V60L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TTATTTTTCACTTGAACTTTA	0.448000													4	34					0.00024832	0.000270208	0.150653	1	0
TMC6	11322	broad.mit.edu	37	17	76113395	76113395	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:76113395C>A	ENST00000590602.1	-	18	2391	c.2232G>T	c.(2230-2232)cgG>cgT	p.R744R	TMC6_ENST00000322933.4_Silent_p.R323R|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Silent_p.R323R|TMC6_ENST00000392467.3_Silent_p.R744R|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Silent_p.R744R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744						endoplasmic reticulum membrane|integral to membrane		p.R744R(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCGCTGGCCCCGCACCACCT	0.682000													9	17					3.03607e-14	4.02064e-14	0.411799	1	0
BRD8	10902	broad.mit.edu	37	5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:137476521C>T	ENST00000254900.5	-	26	3859	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1163	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R1163H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443000													34	890					0	0	0.740014	0	0
NBAS	51594	broad.mit.edu	37	2	15468435	15468435	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:15468435C>A	ENST00000281513.5	-	37	4374	c.4347_splice	c.e37-1	p.G1450_splice	NBAS_ENST00000441750.1_Splice_Site_p.G1330_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450								p.G1450V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACATTTTTGCCCCTaaaaaga	0.388000													101	540					8.60386e-38	1.47377e-37	0.870114	1	0
SERPINB12	89777	broad.mit.edu	37	18	61231212	61231212	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:61231212T>A	ENST00000382768.1	+	5	564	c.562_splice	c.e5-1	p.G188_splice	SERPINB12_ENST00000269491.1_Splice_Site_p.G168_splice			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	168					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTTTTAGGTAAAATCAAGG	0.353000													32	429					0	0	0.834066	0	0
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:160811267C>A	ENST00000368034.4	-	3	565	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CD244_ENST00000368032.2_Nonsense_Mutation_p.E130*|CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Nonsense_Mutation_p.E135*	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	135				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015).	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.E130*(2)|p.E135*(2)|p.E130Q(1)|p.E135Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGGGTTTCTCAACTTTATCT	0.507000													21	111					3.62473e-10	4.42885e-10	0.608945	1	0
ASB15	142685	broad.mit.edu	37	7	123257663	123257663	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:123257663C>A	ENST00000451558.1	+	9	844	c.323C>A	c.(322-324)aCc>aAc	p.T108N	RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.T108N|ASB15_ENST00000275699.3_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.T108N|ASB15_ENST00000451215.1_Missense_Mutation_p.T108N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAATTCAAGACCTGTGATGGA	0.383000													77	224					4.50305e-28	7.20756e-28	0.870114	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51914385	51914385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51914385G>A	ENST00000353836.5	-	10	1998	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q503*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q535*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q445*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q545*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q510*|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q630*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	688					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Q688*(2)|p.Q630*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAATCCGCCTGGGTGCCCTTG	0.562000													30	24					0	0	0.740014	0	0
GABRR1	2569	broad.mit.edu	37	6	89895078	89895078	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:89895078G>A	ENST00000435811.1	-	6	1150	c.696C>T	c.(694-696)ctC>ctT	p.L232L	GABRR1_ENST00000369451.3_Silent_p.L162L|GABRR1_ENST00000454853.2_Silent_p.L249L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	249					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L243L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATTCCTGAATGAGGAACTGGG	0.488000													13	414					0	0	0.435327	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963931	88963931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:88963931G>T	ENST00000333190.4	+	4	2244	c.1635G>T	c.(1633-1635)tgG>tgT	p.W545C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	545						intracellular	zinc ion binding	p.W545C(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCGGATTGGGAAAAATTCC	0.353000										HNSCC(36;0.09)			40	105					3.50607e-19	5.04085e-19	0.870114	1	0
ATP1A3	478	broad.mit.edu	37	19	42471882	42471882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:42471882C>A	ENST00000545399.1	-	21	3045	c.2892G>T	c.(2890-2892)gaG>gaT	p.E964D	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E921D|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E962D|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E951D	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	951					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E951D(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGCCGTCTCCTCAAACA	0.667000													9	28					1.05317e-09	1.27377e-09	0.457914	1	0
UPRT	139596	broad.mit.edu	37	X	74520800	74520800	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:74520800G>T	ENST00000373379.1	+	6	988	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C	UPRT_ENST00000373383.4_Splice_Site_p.G275_splice|UPRT_ENST00000530743.1_Splice_Site_p.G139_splice			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	275					nucleoside metabolic process	cytoplasm|nucleus		p.G275C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CACTCCTCATGGTGAGTTCAG	0.423000													6	212					2.7689e-08	3.26432e-08	0.248553	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73189085	73189085	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:73189085C>T	ENST00000545377.1	+	28	3806	c.3630C>T	c.(3628-3630)gcC>gcT	p.A1210A	ARHGEF28_ENST00000296799.4_Silent_p.A897A|ARHGEF28_ENST00000287898.5_Silent_p.A1210A|ARHGEF28_ENST00000513042.2_Silent_p.A1210A|ARHGEF28_ENST00000426542.2_Silent_p.A1210A|ARHGEF28_ENST00000296794.6_Silent_p.A1210A|ARHGEF28_ENST00000512883.1_Silent_p.A174A|ARHGEF28_ENST00000437974.1_Silent_p.A1210A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A174A(1)|p.A1210A(1)									AAGCTGAAGCCAGAGTGGCCA	0.473000													7	13					0	0	0.335167	0	0
BORA	79866	broad.mit.edu	37	13	73319235	73319235	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:73319235T>A	ENST00000390667.5	+	8	725	c.628T>A	c.(628-630)Tcg>Acg	p.S210T	BORA_ENST00000377815.3_Missense_Mutation_p.S140T|BORA_ENST00000464754.1_3'UTR	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	210	Ser-rich.		S -> L (in dbSNP:rs9543107).		cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	p.S210T(2)									CTCCTTACCTTCGGCTTCTCC	0.448000													25	207					0	0	0.812448	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500307	48500307	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:48500307C>A	ENST00000396577.3	+	2	606	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	SLC12A1_ENST00000558405.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000330289.6_Missense_Mutation_p.L131M|SLC12A1_ENST00000561031.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L131M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	131					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.L131M(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGACCCAGCCTGCTTGAGAT	0.468000													115	168					1.24568e-56	2.31865e-56	0.870114	1	0
IGKV3D-15	28875	broad.mit.edu	37	2	90154121	90154121	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:90154121G>T	ENST00000417279.2	+	0	257																											CCTCATCTATGGTGCATCCAC	0.582000													26	73					6.1244e-12	7.81189e-12	0.834066	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734882	176734882	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:176734882C>G	ENST00000367662.3	+	15	5396	c.4232C>G	c.(4231-4233)tCt>tGt	p.S1411C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1411	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1411C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACTGTACCTCTATAGGCCCA	0.517000													40	808					0	0	0.864702	0	0
MMP9	4318	broad.mit.edu	37	20	44637627	44637627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:44637627C>T	ENST00000372330.3	+	1	81	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	21					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.P21L(2)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGCTGCCCCCAGACAGCGC	0.617000													6	14					0	0	0.217242	0	0
HNF4G	3174	broad.mit.edu	37	8	76472700	76472700	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:76472700C>A	ENST00000396423.2	+	9	1339	c.1216_splice	c.e9+1	p.I405_splice	HNF4G_ENST00000354370.1_Splice_Site_p.I368_splice	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	368					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.I405I(2)|p.I368I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGACCAGATCTGTAAGTTTA	0.363000													20	164					1.00905e-13	1.32484e-13	0.575678	1	0
LCE3D	84648	broad.mit.edu	37	1	152552359	152552359	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152552359T>G	ENST00000368787.3	-	2	110	c.54A>C	c.(52-54)tcA>tcC	p.S18S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	18					keratinization			p.S18S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GACACTTGGGTGAGGGACACT	0.597000													55	191					0	0	0.870114	0	0
BCAS1	8537	broad.mit.edu	37	20	52591957	52591957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:52591957C>G	ENST00000395961.3	-	8	1319	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Missense_Mutation_p.D385H	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	385						cytoplasm	protein binding	p.D385H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGACTGAGTCCTCTTTAACT	0.403000													14	118					0	0	0.539581	0	0
GARNL3	84253	broad.mit.edu	37	9	130073925	130073925	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:130073925C>G	ENST00000373387.4	+	3	582	c.230C>G	c.(229-231)gCc>gGc	p.A77G	GARNL3_ENST00000435213.2_Missense_Mutation_p.A55G|GARNL3_ENST00000314904.5_Missense_Mutation_p.A77G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	77					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.A59G(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATGCAACTGCCCTGCCTGGT	0.413000													32	351					0	0	0.827153	0	0
MXRA5	25878	broad.mit.edu	37	X	3241316	3241316	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:3241316A>C	ENST00000217939.6	-	5	2564	c.2410T>G	c.(2410-2412)Ttg>Gtg	p.L804V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	804						extracellular region		p.L804V(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTTAATCAATGGGGGTACT	0.473000													10	242					0	0	0.411799	0	0
NPY1R	4886	broad.mit.edu	37	4	164247270	164247270	+	Missense_Mutation	SNP	C	C	T	rs148479836		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:164247270C>T	ENST00000296533.2	-	2	968	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	146					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R146Q(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCACCCTCGAGGGTTGAT	0.423000													7	276					0	0	0.248553	0	0
CSMD3	114788	broad.mit.edu	37	8	113668510	113668510	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113668510T>A	ENST00000297405.5	-	18	3121	c.2877A>T	c.(2875-2877)tcA>tcT	p.S959S	CSMD3_ENST00000352409.3_Silent_p.S959S|CSMD3_ENST00000343508.3_Silent_p.S919S|CSMD3_ENST00000455883.2_Silent_p.S855S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	959	CUB 5.					integral to membrane|plasma membrane		p.S919S(2)|p.S959S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGCAAGGGTGACAGAAGAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	149					0	0	0.639603	0	0
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:28476668C>A	ENST00000373857.3	-	2	1499	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PTAFR_ENST00000539896.1_Missense_Mutation_p.D289Y|PTAFR_ENST00000305392.3_Missense_Mutation_p.D289Y	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.D289Y(2)|p.D289H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACAGGGTCTAAGACACAG	0.537000													15	110					1.99824e-07	2.31761e-07	0.520397	1	0
RDH16	8608	broad.mit.edu	37	12	57345827	57345827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:57345827C>A	ENST00000398138.3	-	4	1796	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	314					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.A314S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAGCCTTGGCCGGGCTTGGA	0.537000													34	46					8.16277e-20	1.18471e-19	0.827153	1	0
THEM4	117145	broad.mit.edu	37	1	151849531	151849531	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:151849531C>T	ENST00000368814.3	-	5	977	c.628G>A	c.(628-630)Gtt>Att	p.V210I		NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	210					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTACAGGAAACAAAAAATTTC	0.368000													6	271					0	0	0.248553	0	0
ABCA4	24	broad.mit.edu	37	1	94574149	94574149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:94574149G>T	ENST00000370225.3	-	4	512	c.426C>A	c.(424-426)caC>caA	p.H142Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.H142Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	142					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H142Q(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTCCGGGTGAGTCCGGA	0.498000													52	138					9.77497e-20	1.41678e-19	0.870114	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432940	73432940	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:73432940C>G	ENST00000263666.4	-	10	2891	c.2777G>C	c.(2776-2778)cGc>cCc	p.R926P	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R583P|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R648P|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R583P|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R643P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	926							ubiquitin-protein ligase activity|zinc ion binding	p.R926P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGTCGCTGCGGATCTTCAC	0.667000													6	25					0	0	0.217242	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117174	109117174	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:109117174G>C	ENST00000261483.4	+	9	2504	c.1452G>C	c.(1450-1452)tcG>tcC	p.S484S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	484					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S484S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGGGCCAATCGATGTTCCCTG	0.378000													16	94					0	0	0.639603	0	0
PARP8	79668	broad.mit.edu	37	5	50091127	50091127	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:50091127G>A	ENST00000281631.5	+	12	1462	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	PARP8_ENST00000503750.2_Missense_Mutation_p.S435N|PARP8_ENST00000514342.2_Missense_Mutation_p.S188N|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.S414N|PARP8_ENST00000514067.2_Missense_Mutation_p.S435N|PARP8_ENST00000505697.2_Missense_Mutation_p.S435N	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	435						intracellular	NAD+ ADP-ribosyltransferase activity	p.S435N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTACTCCAGTGCCCCCAAG	0.443000													30	160					0	0	0.729181	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478264	14478264	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:14478264G>T	ENST00000581457.1	-	0	1644					NR_024076.1																						AGGTGGGAGAGTTGGACTCTG	0.488000													10	35					5.50884e-06	6.22789e-06	0.411799	1	0
MYB	4602	broad.mit.edu	37	6	135539023	135539023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:135539023C>A	ENST00000341911.5	+	16	2390	c.2191C>A	c.(2191-2193)Cct>Act	p.P731T	MYB_ENST00000534044.1_Missense_Mutation_p.P573T|MYB_ENST00000367814.4_Missense_Mutation_p.P610T|MYB_ENST00000533624.1_Missense_Mutation_p.P575T|MYB_ENST00000534121.1_Missense_Mutation_p.P715T|MYB_ENST00000528774.1_Missense_Mutation_p.P728T|MYB_ENST00000442647.2_Missense_Mutation_p.P607T|MYB_ENST00000316528.8_Missense_Mutation_p.P696T|MYB_ENST00000525369.1_Missense_Mutation_p.P525T|MYB_ENST00000531845.1_3'UTR	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	610					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.P731T(2)|p.P610T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCTGGGAACCTGCATCCTG	0.517000			T	NFIB	adenoid cystic carcinoma								102	266					2.11273e-47	3.8008e-47	0.870114	1	0
SEZ6L	23544	broad.mit.edu	37	22	26761403	26761403	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:26761403C>A	ENST00000529632.2	+	13	2861	c.2665C>A	c.(2665-2667)Cga>Aga	p.R889R	SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000360929.3_Silent_p.R825R|SEZ6L_ENST00000402979.1_Silent_p.R662R|SEZ6L_ENST00000404234.3_Silent_p.R889R|SEZ6L_ENST00000248933.6_Silent_p.R889R|SEZ6L_ENST00000411842.2_Silent_p.R86R|SEZ6L_ENST00000403121.1_Intron	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	889	Sushi 5.					endoplasmic reticulum membrane|integral to membrane		p.R889R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTGTACAAGCGACTCTACCT	0.547000													65	112					4.81439e-37	8.2074e-37	0.870114	1	0
ALPK2	115701	broad.mit.edu	37	18	56247124	56247124	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:56247124G>C	ENST00000361673.3	-	4	1097	c.884C>G	c.(883-885)cCc>cGc	p.P295R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	295							ATP binding|protein serine/threonine kinase activity	p.P295R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTGGGCTGGGTTGTTTGTT	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	111					0	0	0.248553	0	0
ZNF236	7776	broad.mit.edu	37	18	74617253	74617253	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:74617253G>T	ENST00000253159.8	+	13	2371	c.2173G>T	c.(2173-2175)Ggt>Tgt	p.G725C	ZNF236_ENST00000320610.9_Missense_Mutation_p.G727C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	725					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G725C(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTTCACTACTGGTGGCAGCTT	0.438000													4	63					3.59834e-05	3.98003e-05	0.217242	1	0
LAMC1	3915	broad.mit.edu	37	1	183090909	183090909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:183090909G>T	ENST00000258341.4	+	12	2299	c.2042G>T	c.(2041-2043)gGa>gTa	p.G681V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	681	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.G681V(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGGCCTGGAGTCCCTGCA	0.493000													60	173					5.44642e-36	9.19726e-36	0.870114	1	0
UGT2A1	10941	broad.mit.edu	37	4	70513291	70513291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:70513291C>A	ENST00000503640.1	-	1	127	c.72G>T	c.(70-72)ttG>ttT	p.L24F	UGT2A1_ENST00000512704.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000286604.4_Missense_Mutation_p.L24F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	24					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.L24F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCAAATCAAAACATTCC	0.398000													25	132					0.000147802	0.000162476	0.706142	1	0
APOBR	55911	broad.mit.edu	37	16	28509228	28509228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:28509228G>T	ENST00000564831.1	+	2	2899	c.2866G>T	c.(2866-2868)Gca>Tca	p.A956S	APOBR_ENST00000328423.5_Missense_Mutation_p.A947S|APOBR_ENST00000431282.1_Missense_Mutation_p.A947S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	947	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.A947S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCAGGCCCCTGCAGAAGCTGC	0.667000													24	82					7.26314e-15	9.6902e-15	0.717897	1	0
SCRN1	9805	broad.mit.edu	37	7	29980415	29980415	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:29980415C>G	ENST00000426154.1	-	5	798	c.622G>C	c.(622-624)Gct>Cct	p.A208P	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.A208P|SCRN1_ENST00000409497.1_Missense_Mutation_p.A208P	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	208					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A228P(2)|p.A208P(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGGCTCTGAGCGTAACTCCTG	0.527000													31	154					0	0	0.847076	0	0
HEMGN	55363	broad.mit.edu	37	9	100693342	100693342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:100693342C>A	ENST00000259456.3	-	4	478	c.335G>T	c.(334-336)gGg>gTg	p.G112V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	112					cell differentiation|multicellular organismal development			p.G112V(2)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTTATGCTCCCAGGTGGCTC	0.423000													7	64					0.000157383	0.000172128	0.278610	1	0
HOXA2	3199	broad.mit.edu	37	7	27140626	27140626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:27140626G>T	ENST00000222718.5	-	2	1160	c.850C>A	c.(850-852)Ctg>Atg	p.L284M		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	284						nucleus	sequence-specific DNA binding transcription factor activity	p.L284M(2)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAATGTTTCAGATTTTTCTCA	0.498000													20	77					2.39556e-15	3.23221e-15	0.639603	1	0
GPR139	124274	broad.mit.edu	37	16	20043655	20043655	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:20043655G>T	ENST00000570682.1	-	2	764	c.464C>A	c.(463-465)aCc>aAc	p.T155N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155						integral to membrane|plasma membrane		p.T155N(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGGAAGCAGGTGATGTAAAC	0.522000													35	316					7.53189e-24	1.15396e-23	0.834066	1	0
LGALS9	3965	broad.mit.edu	37	17	25967657	25967657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:25967657C>T	ENST00000395473.2	+	3	1659	c.191C>T	c.(190-192)cCt>cTt	p.P64L	LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.P64L|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.P64L|LGALS9_ENST00000302228.5_Missense_Mutation_p.P64L	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	64	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.P64L(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CACTTCAACCCTCGGTTTGAA	0.527000													17	55					0	0	0.575678	0	0
C9orf84	158401	broad.mit.edu	37	9	114538232	114538232	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:114538232G>T	ENST00000374287.3	-	5	349	c.89C>A	c.(88-90)aCc>aAc	p.T30N	C9orf84_ENST00000318737.4_Missense_Mutation_p.T30N|C9orf84_ENST00000374283.5_Missense_Mutation_p.T94N			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	30								p.T30N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAATCTGGGTCACCATTCT	0.318000													25	102					7.26314e-15	9.6902e-15	0.717897	1	0
VPS13C	54832	broad.mit.edu	37	15	62264919	62264919	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:62264919T>C	ENST00000261517.5	-	27	2735	c.2662A>G	c.(2662-2664)Act>Gct	p.T888A	VPS13C_ENST00000395898.3_Missense_Mutation_p.T845A|VPS13C_ENST00000395896.4_Missense_Mutation_p.T888A|VPS13C_ENST00000249837.3_Missense_Mutation_p.T845A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	888					protein localization			p.T888A(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTTACAAGTCTGTGGTTCT	0.348000													48	164					0	0	0.870114	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316550	38316550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:38316550G>T	ENST00000450935.2	+	3	508	c.430G>T	c.(430-432)Gca>Tca	p.A144S	SLC22A13_ENST00000311856.4_Silent_p.G236G			Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	314						integral to plasma membrane	organic cation transmembrane transporter activity	p.G236G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCCCTCGGGCAGATGGTGC	0.607000													46	126					9.57592e-29	1.54191e-28	0.870114	1	0
TMEM161B	153396	broad.mit.edu	37	5	87494880	87494880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:87494880C>A	ENST00000296595.6	-	10	1126	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMEM161B_ENST00000512429.1_Silent_p.L323L|TMEM161B_ENST00000511218.1_Silent_p.L125L|TMEM161B_ENST00000514135.1_Silent_p.L334L|TMEM161B_ENST00000506536.1_Silent_p.L152L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	334						integral to membrane		p.L334L(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATAAGCTTGCAGGTGACTAC	0.423000													13	34					4.7546e-09	5.70552e-09	0.500413	1	0
MYH1	4619	broad.mit.edu	37	17	10399714	10399714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:10399714G>T	ENST00000226207.5	-	34	4903	c.4809C>A	c.(4807-4809)agC>agA	p.S1603R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1603						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1603R(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCCAGTGTGCTCTGCATGG	0.448000													199	477					1.23147e-137	2.49077e-137	0.870114	1	0
DSCAML1	57453	broad.mit.edu	37	11	117387251	117387251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:117387251C>A	ENST00000321322.6	-	8	1895	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E362*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	572	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E632*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACAGGTACTCCCCCTCATCC	0.612000													12	19					4.3838e-07	5.06803e-07	0.435327	1	0
TSPAN12	23554	broad.mit.edu	37	7	120428789	120428789	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:120428789G>C	ENST00000222747.3	-	8	1382	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	TSPAN12_ENST00000415871.1_Missense_Mutation_p.Q259E	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	259					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GACATCATTTGGTCTGTCCCC	0.468000													11	639					0	0	0.411799	0	0
RBBP6	5930	broad.mit.edu	37	16	24578506	24578506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:24578506G>C	ENST00000319715.4	+	15	2064	c.1632G>C	c.(1630-1632)agG>agC	p.R544S	RBBP6_ENST00000348022.2_Missense_Mutation_p.R544S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R544S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATCACAGAGGACTCAAGGCC	0.478000													41	144					0	0	0.870114	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617601	54617601	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:54617601A>T	ENST00000302287.3	+	4	778	c.372A>T	c.(370-372)ttA>ttT	p.L124F	VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.L124F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.L123F|VSTM2A_ENST00000407838.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000402613.3_Missense_Mutation_p.L124F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	124	Ig-like V-type.					extracellular region		p.L124F(2)|p.L123F(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGAAGGCTTATATGAGTGCA	0.468000													8	24					0	0	0.361761	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444315	5444315	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:5444315T>A	ENST00000300778.4	+	1	975	c.885T>A	c.(883-885)agT>agA	p.S295R	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S295R(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTTACAGTGTAAAGAACA	0.428000													23	162					0	0	0.667858	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766770	77766770	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:77766770T>C	ENST00000521891.2	+	10	8061	c.7613T>C	c.(7612-7614)aTg>aCg	p.M2538T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M2522T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCCCTACATGATATTTGAC	0.547000										HNSCC(33;0.089)			92	460					0	0	0.870114	0	0
DGKB	1607	broad.mit.edu	37	7	14216490	14216490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:14216490C>A	ENST00000403951.2	-	25	2700	c.2281G>T	c.(2281-2283)Gag>Tag	p.E761*	DGKB_ENST00000402815.1_Nonsense_Mutation_p.E760*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.E761*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.E742*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.E761*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.E753*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.E761*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	761					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.E761*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATCCATGGCTCCCCATCAATT	0.393000													278	588					4.38155e-111	8.82887e-111	0.870114	1	0
ZMYND11	10771	broad.mit.edu	37	10	294355	294355	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:294355T>C	ENST00000397962.3	+	13	1735	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	ZMYND11_ENST00000381607.4_Missense_Mutation_p.V342A|ZMYND11_ENST00000381602.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000558098.2_Missense_Mutation_p.V436A|ZMYND11_ENST00000545619.1_Missense_Mutation_p.V316A|ZMYND11_ENST00000381591.1_Missense_Mutation_p.V436A|ZMYND11_ENST00000381604.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000535374.1_Missense_Mutation_p.V231A|ZMYND11_ENST00000397959.3_Missense_Mutation_p.V351A|ZMYND11_ENST00000602682.1_Missense_Mutation_p.V351A|ZMYND11_ENST00000402736.1_Missense_Mutation_p.V405A|ZMYND11_ENST00000403354.1_Missense_Mutation_p.V356A|ZMYND11_ENST00000509513.2_Missense_Mutation_p.V435A|ZMYND11_ENST00000309776.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000381584.1_Missense_Mutation_p.V419A			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	396	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V436A(4)|p.V396A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAGTCTCCGTGTCAACTCAG	0.498000													29	93					0	0	0.750413	0	0
KATNAL1	84056	broad.mit.edu	37	13	30801606	30801606	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:30801606T>C	ENST00000380615.3	-	9	1257	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I364V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	364						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.I364V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTCATCAATGTCCCACGGG	0.378000													72	394					0	0	0.870114	0	0
ISOC1	51015	broad.mit.edu	37	5	128440942	128440942	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:128440942G>A	ENST00000173527.5	+	3	510	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	165						peroxisome	catalytic activity	p.G165E(2)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		AAAGGTCTTGGGAGCACGGTT	0.383000													9	34					0	0	0.387290	0	0
ABCA13	154664	broad.mit.edu	37	7	48452087	48452087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:48452087G>T	ENST00000435803.1	+	41	12390	c.12366G>T	c.(12364-12366)aaG>aaT	p.K4122N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4122					transport	integral to membrane	ATP binding|ATPase activity	p.K4067N(2)|p.K4122N(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGACAAGGCCTGCTTGA	0.493000													63	324					1.07941e-43	1.91302e-43	0.870114	1	0
DNER	92737	broad.mit.edu	37	2	230341871	230341871	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:230341871A>G	ENST00000341772.4	-	7	1380	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	416	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C416R(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGACACTGGCAGGTGAATCCA	0.378000													17	66					0	0	0.834066	0	0
OR2G2	81470	broad.mit.edu	37	1	247752128	247752128	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247752128T>C	ENST00000320065.1	+	1	467	c.467T>C	c.(466-468)aTa>aCa	p.I156T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I156T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCAGTGGAATAGCCACCACC	0.547000													252	761					0	0	0.870114	0	0
FER1L6	654463	broad.mit.edu	37	8	125110055	125110055	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:125110055C>A	ENST00000522917.1	+	37	5020	c.4814C>A	c.(4813-4815)aCt>aAt	p.T1605N	FER1L6_ENST00000399018.1_Missense_Mutation_p.T1605N|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1605	C2 6.					integral to membrane		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCTGGAACACTGAAGATGTC	0.418000													145	237					2.89414e-53	5.33156e-53	0.870114	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:47846506C>G	ENST00000339488.4	-	3	2107	c.2074G>C	c.(2074-2076)Gtc>Ctc	p.V692L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	692						integral to membrane	hedgehog receptor activity	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453000													26	95					0	0	0.693898	0	0
CUL7	9820	broad.mit.edu	37	6	43020259	43020259	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:43020259C>A	ENST00000535468.1	-	2	510	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	CUL7_ENST00000265348.3_Missense_Mutation_p.G90W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	90					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGGAGGGCCCGATGACCTGG	0.587000													3	87					0.004672	0.00487631	0.115264	1	0
SLC22A6	9356	broad.mit.edu	37	11	62749428	62749428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:62749428T>A	ENST00000377871.3	-	4	949	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.Y228F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.Y228F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.Y228F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	228					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Y228F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGTAGACATAGCCAATCAA	0.592000													17	68					0	0	0.557998	0	0
MYOM3	127294	broad.mit.edu	37	1	24421441	24421441	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:24421441A>T	ENST00000330966.7	-	9	995	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	MYOM3_ENST00000374434.3_Missense_Mutation_p.L277Q|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.L277Q			Q5VTT5	MYOM3_HUMAN	myomesin 3	277	Ig-like C2-type 2.							p.L277Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTGGCTTCAGCACCGAGGT	0.537000													32	45					0	0	0.853193	0	0
CHI3L2	1117	broad.mit.edu	37	1	111770280	111770280	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:111770280G>T	ENST00000445067.2	+	3	700		c.e3-1		CHI3L2_ENST00000369744.2_5'UTR|CHI3L2_ENST00000369748.4_Intron			Q15782	CH3L2_HUMAN	chitinase 3-like 2						chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CTTTCGTGTAGGACAGGCTGT	0.493000													15	28					1.52009e-12	1.96459e-12	0.479597	1	0
LSAMP	4045	broad.mit.edu	37	3	115805319	115805319	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:115805319C>A	ENST00000490035.1	-	2	739	c.240G>T	c.(238-240)ctG>ctT	p.L80L	LSAMP_ENST00000539563.1_Silent_p.L77L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.L80L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCCGTGGGTCCAGAGACCACT	0.502000													41	186					6.87076e-12	8.7535e-12	0.870114	1	0
PDZD9	255762	broad.mit.edu	37	16	21999929	21999929	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:21999929A>C	ENST00000286143.6	-	4	530	c.209T>G	c.(208-210)gTa>gGa	p.V70G	PDZD9_ENST00000537222.2_Missense_Mutation_p.V72G|PDZD9_ENST00000424898.2_Missense_Mutation_p.V132G			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	132	PDZ.							p.V70G(2)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TTACCTTGTTACTGGGAATTT	0.343000													29	82					0	0	0.740014	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481082	27481082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:27481082C>T	ENST00000233535.4	-	3	723	c.371G>A	c.(370-372)tGg>tAg	p.W124*	SLC30A3_ENST00000447008.2_Nonsense_Mutation_p.W119*	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	124					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.W124*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGAGCCAGAGGGAGAA	0.637000													7	22					0	0	0.307466	0	0
KCTD7	154881	broad.mit.edu	37	7	66264318	66264318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:66264318G>T	ENST00000380828.2	+	9	1011	c.857G>T	c.(856-858)cGc>cTc	p.R286L	KCTD7_ENST00000451741.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R260L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R259L|KCTD7_ENST00000510829.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R246L|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R246L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGAGCCCTGCGCTGGGTTACG	0.493000													42	108					6.31075e-24	9.6825e-24	0.870114	1	0
RTTN	25914	broad.mit.edu	37	18	67718658	67718658	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:67718658G>A	ENST00000255674.6	-	39	5598	c.5312C>T	c.(5311-5313)aCa>aTa	p.T1771I	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1771							binding	p.T1771I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AATCGCCGCTGTCCAGTGCTT	0.453000													13	429					0	0	0.575678	0	0
SKAP2	8935	broad.mit.edu	37	7	26779578	26779578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:26779578G>A	ENST00000345317.2	-	5	626	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	105					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.Q105*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGAGGAAACTGGGCTCCTATG	0.388000													14	90					0	0	0.500413	0	0
IL27RA	9466	broad.mit.edu	37	19	14153294	14153294	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:14153294G>T	ENST00000263379.2	+	5	689	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	188	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.L188L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCATACCCCTGACCCCTGTTG	0.547000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	71					4.26978e-12	5.45272e-12	0.654019	1	0
PDILT	204474	broad.mit.edu	37	16	20380897	20380897	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:20380897C>A	ENST00000302451.4	-	8	1281	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	345					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.A345S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGTACCTGGCGTCAGAGCTC	0.468000													48	330					4.88482e-21	7.20646e-21	0.870114	1	0
NEGR1	257194	broad.mit.edu	37	1	72400910	72400910	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:72400910C>A	ENST00000357731.4	-	2	500	c.261G>T	c.(259-261)gtG>gtT	p.V87V	NEGR1_ENST00000434200.1_Silent_p.V85V|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	87	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane		p.V87V(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTCGAGGATCCACTGACCACT	0.433000													24	85					3.6726e-16	5.04396e-16	0.667858	1	0
ATP2A1	487	broad.mit.edu	37	16	28898990	28898990	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:28898990C>T	ENST00000395503.4	+	8	1059	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ATP2A1_ENST00000536376.1_Missense_Mutation_p.A167V|ATP2A1_ENST00000357084.3_Missense_Mutation_p.A292V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	292					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.A292V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TTCCGCGGGGCCATCTACTAC	0.547000													3	48					0	0	0.115264	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999351	27999351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:27999351G>T	ENST00000441525.1	-	1	215	c.101C>A	c.(100-102)gCg>gAg	p.A34E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	34								p.A34E(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGAGGAGGCCGCCGTCACCGC	0.562000													11	17					6.72482e-11	8.36902e-11	0.479597	1	0
SPTBN1	6711	broad.mit.edu	37	2	54893182	54893182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:54893182G>T	ENST00000356805.4	+	34	7071	c.6790G>T	c.(6790-6792)Gtg>Ttg	p.V2264L		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2264	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.V2264L(2)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCTGCGAAGTGGCCCTTGA	0.468000													29	349					3.67414e-24	5.66958e-24	0.760397	1	0
COL27A1	85301	broad.mit.edu	37	9	117027389	117027389	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:117027389C>T	ENST00000356083.3	+	31	3729	c.3339_splice	c.e31+1	p.P1113_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1113	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1113L(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGCTTTCCTGTAAGTAGC	0.547000													26	46					0	0	0.667858	0	0
CD5L	922	broad.mit.edu	37	1	157803126	157803126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:157803126T>A	ENST00000368174.4	-	5	991	c.895A>T	c.(895-897)Aaa>Taa	p.K299*		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	299	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.K299*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATAGCATTTCCGGTCTCTG	0.577000													66	183					0	0	0.870114	0	0
TRAV22	28661	broad.mit.edu	37	14	22539228	22539228	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22539228G>T	ENST00000390450.3	+	0	221																											GAGTCCTCCAGACCTGATTCT	0.463000													59	159					9.65139e-37	1.63753e-36	0.870114	1	0
PLCE1	51196	broad.mit.edu	37	10	96005858	96005858	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:96005858A>G	ENST00000260766.3	+	8	3210	c.2576A>G	c.(2575-2577)cAg>cGg	p.Q859R	PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859R|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551R|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATGTGCACCAGTTCCTGCTG	0.587000													79	89					0	0	0.870114	0	0
FAM120A	23196	broad.mit.edu	37	9	96318676	96318676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:96318676G>T	ENST00000277165.6	+	13	2481	c.2287G>T	c.(2287-2289)Gat>Tat	p.D763Y	FAM120A_ENST00000333936.5_Missense_Mutation_p.D791Y|FAM120A_ENST00000340893.4_Missense_Mutation_p.D763Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	763						cytoplasm|plasma membrane	RNA binding	p.D763Y(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGAACCTAGATCCCCGAGG	0.388000													6	94					0.00116845	0.00124003	0.217242	1	0
TTN	7273	broad.mit.edu	37	2	179592523	179592523	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179592523C>T	ENST00000589042.1	-	68	20006	c.19782G>A	c.(19780-19782)aaG>aaA	p.K6594K	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.K5350K|TTN_ENST00000591111.1_Silent_p.K6277K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6277	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K5350K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTATTGCCTTAAATTCCA	0.373000													64	152					0	0	0.870114	0	0
KIAA1109	84162	broad.mit.edu	37	4	123260563	123260563	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:123260563G>T	ENST00000264501.4	+	72	12725	c.12352_splice	c.e72+1	p.G4118_splice	KIAA1109_ENST00000388738.3_Splice_Site_p.G4118_splice			Q2LD37	K1109_HUMAN	KIAA1109	4118	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G4118C(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATACCAGGTATAGATAA	0.313000													15	45					4.14922e-12	5.31773e-12	0.500413	1	0
GABRE	2564	broad.mit.edu	37	X	151131077	151131077	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:151131077G>A	ENST00000393914.3	-	0	604				GABRE_ENST00000370328.3_Silent_p.Y127Y|GABRE_ENST00000370325.1_Silent_p.Y127Y			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y14Y(2)|p.Y127Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGTTCGTCGTACCAGGTCT	0.463000													11	209					0	0	0.457914	0	0
RNF17	56163	broad.mit.edu	37	13	25356050	25356050	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:25356050G>A	ENST00000255324.5	+	6	631	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RNF17_ENST00000381921.1_Silent_p.Q193Q|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.Q193Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	193					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q193Q(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGAGAAACAGTTTGACCAAC	0.328000													36	200					0	0	0.870114	0	0
OR2K2	26248	broad.mit.edu	37	9	114090593	114090593	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:114090593C>T	ENST00000374428.1	-	1	207	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	OR2K2_ENST00000302681.1_Missense_Mutation_p.G41S			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41S(1)|p.G70S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTGCTGTTGCCCAAGAGCGTT	0.413000													18	473					0	0	0.624587	0	0
CDC73	79577	broad.mit.edu	37	1	193111176	193111176	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:193111176A>G	ENST00000367435.3	+	7	893	c.709A>G	c.(709-711)Atc>Gtc	p.I237V		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	237					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.I237V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACGAACAACTATCTTACAAAG	0.403000													14	200					0	0	0.592651	0	0
INTU	27152	broad.mit.edu	37	4	128632153	128632153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:128632153G>T	ENST00000335251.5	+	14	2558	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	819								p.E819*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TACCCTTGAAGAGGTGGCACA	0.418000													47	172					2.74695e-27	4.33857e-27	0.870114	1	0
OR1N2	138882	broad.mit.edu	37	9	125315646	125315646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:125315646C>G	ENST00000373688.2	+	1	256	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I66M(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGGCCATCAGCTCTGACC	0.527000													102	711					0	0	0.870114	0	0
NUGGC	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:27927077C>T	ENST00000413272.2	-	4	383	c.241G>A	c.(241-243)Gga>Aga	p.G81R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G81R(4)									TACTTGACTCCATTAGGGATG	0.413000													20	145					0	0	0.654019	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914953	94914953	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:94914953G>T	ENST00000334708.3	-	2	223	c.159C>A	c.(157-159)acC>acA	p.T53T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	53					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T235T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATTGGTAATGGTGGGTGTGA	0.572000													135	509					1.12709e-80	2.22109e-80	0.870114	1	0
EXOC5	10640	broad.mit.edu	37	14	57684713	57684713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:57684713T>G	ENST00000413566.2	-	15	1959	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	EXOC5_ENST00000340918.7_Missense_Mutation_p.T469P	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	534					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		p.T536P(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCAATGCCAGTATCCAATTTC	0.289000													17	164					0	0	0.624587	0	0
OR4L1	122742	broad.mit.edu	37	14	20528425	20528425	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:20528425C>T	ENST00000315683.1	+	1	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGTCTCTCCACTGCCACAA	0.453000													49	392					0	0	0.870114	0	0
STAG2	10735	broad.mit.edu	37	X	123156495	123156495	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:123156495A>T	ENST00000371160.1	+	3	308	c.18A>T	c.(16-18)gaA>gaT	p.E6D	STAG2_ENST00000371157.3_Missense_Mutation_p.E6D|STAG2_ENST00000371145.3_Missense_Mutation_p.E6D|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000218089.9_Missense_Mutation_p.E6D|STAG2_ENST00000371144.3_Missense_Mutation_p.E6D			Q8N3U4	STAG2_HUMAN	stromal antigen 2	6					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.E6D(4)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGCTCCAGAAATACCAACTG	0.308000													17	16					0	0	0.592651	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266601	113266601	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:113266601C>T	ENST00000369630.3	+	4	517	c.300C>T	c.(298-300)gaC>gaT	p.D100D	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region		p.D100D(2)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGTAGAGACCCTAGAGCTG	0.607000													6	41					0	0	0.248553	0	0
SPEF2	79925	broad.mit.edu	37	5	35779450	35779450	+	Splice_Site	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:35779450T>G	ENST00000440995.2	+	30	4432		c.e30+2		SPEF2_ENST00000356031.3_Splice_Site|SPEF2_ENST00000303129.4_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCTAAAGGTAGGAAAAATA	0.388000													10	207					0	0	0.335167	0	0
PDS5B	23047	broad.mit.edu	37	13	33320130	33320130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:33320130A>T	ENST00000315596.10	+	24	2814	c.2628A>T	c.(2626-2628)tcA>tcT	p.S876S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	876					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.S876S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGATATGTCACGTCTGAGAC	0.328000													21	266					0	0	0.729181	0	0
STAP1	26228	broad.mit.edu	37	4	68436840	68436840	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:68436840T>A	ENST00000265404.2	+	2	241	c.159T>A	c.(157-159)acT>acA	p.T53T	STAP1_ENST00000396225.1_Silent_p.T53T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	53	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm		p.T53T(2)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGGAACTACTCTTTTCTTTT	0.308000													142	369					0	0	0.870114	0	0
BRIP1	83990	broad.mit.edu	37	17	59760806	59760806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:59760806T>C	ENST00000259008.2	-	20	3868	c.3601A>G	c.(3601-3603)Att>Gtt	p.I1201V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1201					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.I1201V(4)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCTTCAATATGCAGAATT	0.303000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					50	83					0	0	0.870114	0	0
OR5D14	219436	broad.mit.edu	37	11	55563649	55563649	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:55563649C>T	ENST00000335605.1	+	1	618	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T206T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTTCGCCACCTTCAATGAGA	0.433000													27	323					0	0	0.750413	0	0
TESPA1	9840	broad.mit.edu	37	12	55356793	55356793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:55356793G>A	ENST00000524622.1	-	7	1136	c.475C>T	c.(475-477)Cga>Tga	p.R159*	TESPA1_ENST00000449076.1_Nonsense_Mutation_p.R297*|TESPA1_ENST00000532804.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.R297*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.R159*	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	297								p.R297*(2)|p.R159*(2)									GGCCGGTCTCGGGGGCATGTG	0.542000													97	145					0	0	0.870114	0	0
DNAH9	1770	broad.mit.edu	37	17	11622751	11622751	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:11622751C>T	ENST00000262442.3	+	27	5721	c.5653C>T	c.(5653-5655)Cgc>Tgc	p.R1885C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1885C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1885	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1885C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTGGGCCGCGCACTGGG	0.627000													4	104					0	0	0.184627	0	0
LCE3D	84648	broad.mit.edu	37	1	152552407	152552407	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152552407G>T	ENST00000368787.3	-	2	62	c.6C>A	c.(4-6)tcC>tcA	p.S2S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization			p.S2S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TCTGCTGGCAGGACATCTTGG	0.547000													40	203					6.31075e-24	9.6825e-24	0.870114	1	0
SPRR1B	6699	broad.mit.edu	37	1	153005016	153005016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:153005016C>A	ENST00000307098.4	+	2	260	c.195C>A	c.(193-195)tgC>tgA	p.C65*	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C65*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCATGCCACCCCAAGG	0.617000													99	358					5.93169e-28	9.45198e-28	0.870114	1	0
TRPV5	56302	broad.mit.edu	37	7	142625790	142625790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142625790G>T	ENST00000265310.1	-	6	1106	c.758C>A	c.(757-759)aCt>aAt	p.T253N	TRPV5_ENST00000442623.1_Missense_Mutation_p.T253N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	253					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.T253N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTTACCACAGTGTTACCCTC	0.577000													8	36					0.00185496	0.00196278	0.435327	1	0
RP1	6101	broad.mit.edu	37	8	55538014	55538014	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:55538014T>G	ENST00000220676.1	+	4	1720	c.1572T>G	c.(1570-1572)gaT>gaG	p.D524E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	524					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D524E(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACAATGATCAAATGGAGG	0.348000													4	60					0	0	0.184627	0	0
FAM47C	442444	broad.mit.edu	37	X	37027514	37027514	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:37027514C>T	ENST00000358047.3	+	1	1083	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	344								p.P344L(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCACCCAGAGCCTCCC	0.622000													25	33					0	0	0.760397	0	0
FHL1	2273	broad.mit.edu	37	X	135288623	135288623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:135288623G>T	ENST00000543669.1	+	2	743	c.32G>T	c.(31-33)aGg>aTg	p.R11M	FHL1_ENST00000370676.3_Missense_Mutation_p.R27M|FHL1_ENST00000370683.1_Missense_Mutation_p.R27M|FHL1_ENST00000539015.1_Missense_Mutation_p.R40M|FHL1_ENST00000394153.2_Missense_Mutation_p.R11M|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394155.2_Missense_Mutation_p.R11M|FHL1_ENST00000370690.3_Missense_Mutation_p.R11M|FHL1_ENST00000345434.3_Missense_Mutation_p.R11M|FHL1_ENST00000535737.1_Missense_Mutation_p.R11M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	11					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.R11M(4)|p.R40M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CACTACTGCAGGGATCCCTTG	0.557000													117	179					1.21703e-59	2.30121e-59	0.870114	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616685	77616685	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:77616685A>G	ENST00000521891.2	+	2	810	c.362A>G	c.(361-363)gAc>gGc	p.D121G	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D121G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D121G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D121G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D121G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTTAGAGGACAGTGACGTG	0.478000										HNSCC(33;0.089)			13	313					0	0	0.435327	0	0
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552000													66	85					4.09166e-32	6.72962e-32	0.870114	1	0
PPP3R2	5535	broad.mit.edu	37	9	104356802	104356802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:104356802G>T	ENST00000374806.1	-	1	481	c.411C>A	c.(409-411)gaC>gaA	p.D137E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	134	EF-hand 4.						calcium ion binding	p.D137E(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TGATGGTTTTGTCGACCAGCT	0.522000													11	80					9.70103e-10	1.17595e-09	0.361761	1	0
TDRD6	221400	broad.mit.edu	37	6	46657599	46657599	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:46657599G>T	ENST00000544460.1	+	1	1988	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	TDRD6_ENST00000316081.6_Silent_p.V578V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	578	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.V578V(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGAAAATGTGGACTGGTATG	0.433000													69	194					5.88917e-42	1.03349e-41	0.870114	1	0
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:10448802G>A	ENST00000245503.5	-	5	750	c.366C>T	c.(364-366)ttC>ttT	p.F122F	MYH2_ENST00000397183.2_Silent_p.F122F|MYH2_ENST00000532183.1_Silent_p.F122F|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	122	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F122F(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTGACACAGAAGAGACCTG	0.453000													23	65					0	0	0.667858	0	0
DSCAM	1826	broad.mit.edu	37	21	41725556	41725556	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:41725556C>T	ENST00000400454.1	-	5	1247	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	257	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R257H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCAGCCAGCGGTAATCTGG	0.602000													4	67					0	0	0.248553	0	0
YIPF7	285525	broad.mit.edu	37	4	44626769	44626769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:44626769C>A	ENST00000332990.5	-	5	545	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	177						endoplasmic reticulum membrane|integral to membrane		p.G177C(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCACTCATGCCATACACATAA	0.478000													32	98					2.45108e-15	3.30296e-15	0.840704	1	0
AGXT2	64902	broad.mit.edu	37	5	34998886	34998886	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:34998886C>G	ENST00000231420.6	-	14	1683	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	495					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.D495H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACTGCAAAATCAACTTCTGGT	0.358000													12	644					0	0	0.520397	0	0
C7	730	broad.mit.edu	37	5	40964907	40964907	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:40964907T>A	ENST00000313164.9	+	14	2173	c.1814T>A	c.(1813-1815)cTt>cAt	p.L605H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	605	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.L605H(1)					Ovarian(839;0.0112)				GGATACTCTCTTATTGGAAAC	0.393000													41	857					0	0	0.870114	0	0
LZTS2	84445	broad.mit.edu	37	10	102763886	102763886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:102763886G>T	ENST00000370220.1	+	2	4094	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	LZTS2_ENST00000370223.3_Missense_Mutation_p.R344L			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	344					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.R344L(2)|p.R207L(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGCAGCTGCGGGACAGTCTG	0.622000													11	22					6.31663e-08	7.36597e-08	0.479597	1	0
ISLR	3671	broad.mit.edu	37	15	74467708	74467708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:74467708C>T	ENST00000249842.3	+	2	866	c.509C>T	c.(508-510)aCc>aTc	p.T170I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.T170I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	170					cell adhesion	extracellular region		p.T170I(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACCCCGCTCACCGCGCTGTCC	0.657000													15	29					0	0	0.575678	0	0
RAG1	5896	broad.mit.edu	37	11	36597537	36597537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:36597537G>T	ENST00000299440.5	+	2	2795	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	895					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V895L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGAAACCAGTATGGCGATC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				47	521					2.84144e-21	4.22089e-21	0.870114	1	0
AFF4	27125	broad.mit.edu	37	5	132270357	132270357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:132270357G>A	ENST00000265343.5	-	3	779	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Nonsense_Mutation_p.Q134*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	134	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.Q134*(2)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTCCGCTGGCTACTATGT	0.532000													41	95					0	0	0.834066	0	0
HYDIN	54768	broad.mit.edu	37	16	70908208	70908208	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:70908208C>A	ENST00000393567.2	-	64	11098	c.10948_splice	c.e64+1	p.A3650_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3650								p.A3601S(2)|p.A3649S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTCCCACCTGCCACCAAG	0.458000													36	242					2.56175e-15	3.44776e-15	0.870114	1	0
WDR36	134430	broad.mit.edu	37	5	110440497	110440497	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:110440497A>T	ENST00000506538.2	+	9	1749	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	WDR36_ENST00000505303.1_Silent_p.G336G|WDR36_ENST00000513710.2_Silent_p.G392G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	392					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.G392G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACAGAATGGACAGCAGATTC	0.398000													47	488					0	0	0.870114	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067033	18067033	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:18067033T>A	ENST00000506618.2	-	1	453	c.373A>T	c.(373-375)Atc>Ttc	p.I125F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	125					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.I125F(4)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCATGGTGATGATATGATCC	0.463000													144	368					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478928	110478928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:110478928C>A	ENST00000378402.5	+	50	8639	c.8535C>A	c.(8533-8535)caC>caA	p.H2845Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2845					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.H2847Q(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGCTTTCACCGTTTAGCGT	0.438000										HNSCC(38;0.096)			50	93					5.66675e-16	7.76287e-16	0.870114	1	0
NDST4	64579	broad.mit.edu	37	4	115773883	115773883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:115773883G>C	ENST00000264363.2	-	8	2492	c.1814C>G	c.(1813-1815)aCa>aGa	p.T605R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	605	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T605R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGG	0.303000													24	71					0	0	0.667858	0	0
STEAP4	79689	broad.mit.edu	37	7	87913403	87913403	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:87913403C>T	ENST00000380079.4	-	2	283	c.182G>A	c.(181-183)gGt>gAt	p.G61D	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G61D|STEAP4_ENST00000414498.1_Missense_Mutation_p.G61D|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	61					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.G61D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GACTTCTGCACCACTGGGCAG	0.438000													20	128					0	0	0.639603	0	0
LRAT	9227	broad.mit.edu	37	4	155670250	155670250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:155670250G>T	ENST00000336356.3	+	3	908	c.655G>T	c.(655-657)Gca>Tca	p.A219S	LRAT_ENST00000507827.1_Missense_Mutation_p.A219S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	219					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	p.A219S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TACCCTTCCTGCAATTTTTAT	0.393000													30	153					7.83172e-31	1.28025e-30	0.796494	1	0
CFHR4	10877	broad.mit.edu	37	1	196871741	196871741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:196871741C>A	ENST00000367416.2	+	2	386	c.249C>A	c.(247-249)tgC>tgA	p.C83*	CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.C84*	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C83*(2)|p.C84*(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CGGTCCCATGCCTCAGTAAGT	0.348000													101	237					3.20437e-51	5.86284e-51	0.870114	1	0
DFNB31	25861	broad.mit.edu	37	9	117166348	117166348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:117166348G>T	ENST00000362057.3	-	10	2414	c.2246C>A	c.(2245-2247)aCg>aAg	p.T749K	DFNB31_ENST00000374059.3_Missense_Mutation_p.T398K|DFNB31_ENST00000265134.6_Missense_Mutation_p.T366K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	749					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.T749K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGAGCGTAGAGGCTGC	0.632000													4	12					0.27861	0.280701	0.278610	1	0
A1CF	29974	broad.mit.edu	37	10	52580401	52580401	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:52580401C>G	ENST00000395489.2	-	10	1153	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	A1CF_ENST00000395495.1_Missense_Mutation_p.E205Q|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.E268Q|A1CF_ENST00000374001.1_Missense_Mutation_p.E260Q|A1CF_ENST00000373997.3_Missense_Mutation_p.E260Q|A1CF_ENST00000282641.2_Missense_Mutation_p.E260Q|A1CF_ENST00000373993.1_Missense_Mutation_p.E260Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	260	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E260Q(2)|p.E268Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCACCCTCTCCACAGCACCT	0.388000													14	124					0	0	0.557998	0	0
C15orf60	283677	broad.mit.edu	37	15	73852136	73852136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:73852136C>A	ENST00000331090.6	+	6	708	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.S199Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	227								p.S227Y(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATGAACAATCTGCATGGGGT	0.463000													38	101					5.75399e-11	7.1858e-11	0.870114	1	0
FBXO40	51725	broad.mit.edu	37	3	121342078	121342078	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:121342078T>G	ENST00000338040.4	+	3	2216	c.1802T>G	c.(1801-1803)gTg>gGg	p.V601G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	601	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAGGTGTCTGTGCTGATGAGG	0.493000													5	242					0	0	0.248553	0	0
NLRP3	114548	broad.mit.edu	37	1	247587802	247587802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247587802G>T	ENST00000366497.2	+	4	1837	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	NLRP3_ENST00000391827.2_Missense_Mutation_p.V353L|NLRP3_ENST00000366496.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391828.3_Missense_Mutation_p.V353L|NLRP3_ENST00000336119.3_Missense_Mutation_p.V353L|NLRP3_ENST00000348069.2_Missense_Mutation_p.V353L|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	353	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V353L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACGAGACCTGTGGCCCTGGA	0.557000													35	161					1.3203e-36	2.2366e-36	0.870114	1	0
KIAA1524	57650	broad.mit.edu	37	3	108278693	108278693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:108278693C>A	ENST00000295746.8	-	16	2000	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D483Y	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	642						cytoplasm|integral to membrane	protein binding	p.D642Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAAAGATCTTGTAGCCTG	0.353000													16	91					6.94344e-10	8.43581e-10	0.539581	1	0
SEMA3A	10371	broad.mit.edu	37	7	83640407	83640407	+	Splice_Site	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:83640407T>C	ENST00000265362.3	-	9	1240	c.925_splice	c.e9-1	p.Q309_splice	SEMA3A_ENST00000436949.1_Splice_Site_p.Q309_splice	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	309	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.Q309R(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAATACATCCTCTGTTTAAAA	0.313000													24	46					0	0	0.667858	0	0
AATF	26574	broad.mit.edu	37	17	35311178	35311178	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:35311178G>A	ENST00000225402.5	+	4	1054	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	268					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	p.G268D(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GACAAAGGTGGCCCAGAATTT	0.418000													11	119					0	0	0.435327	0	0
IPO8	10526	broad.mit.edu	37	12	30783888	30783888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:30783888G>T	ENST00000256079.4	-	25	3358	c.3020C>A	c.(3019-3021)gCa>gAa	p.A1007E	IPO8_ENST00000544829.1_Missense_Mutation_p.A802E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.A1007E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCTTCTTTGCCTCTAGCAT	0.398000													42	91					8.69298e-16	1.1833e-15	0.827153	1	0
DIO2	1734	broad.mit.edu	37	14	80669342	80669342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:80669342G>T	ENST00000557010.1	-	4	897	c.512C>A	c.(511-513)gCg>gAg	p.A171E	DIO2_ENST00000555750.1_Missense_Mutation_p.A207E|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_Silent_p.R46R|DIO2_ENST00000438257.4_Missense_Mutation_p.A171E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	171					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.A207E(2)|p.A171E(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCGGTATCGCCCAGCCATC	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	128					3.73988e-18	5.3271e-18	0.706142	1	0
ELF1	1997	broad.mit.edu	37	13	41507884	41507884	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:41507884G>C	ENST00000239882.3	-	9	1851	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	ELF1_ENST00000442101.1_Missense_Mutation_p.Q489E|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	513					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q513E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAATGGTCTGAACATTGCTA	0.517000													18	142					0	0	0.539581	0	0
SYTL2	54843	broad.mit.edu	37	11	85459316	85459316	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:85459316T>A	ENST00000316356.4	-	3	816	c.253_splice	c.e3+1	p.A84_splice	SYTL2_ENST00000527523.1_Splice_Site_p.A36_splice|SYTL2_ENST00000389960.4_Splice_Site_p.A84_splice|SYTL2_ENST00000528231.1_Splice_Site_p.A84_splice|SYTL2_ENST00000524452.1_Splice_Site_p.A84_splice			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	84					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.A84A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCAACTCACCTGCTATCTGGG	0.468000													120	233					0	0	0.870114	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555000	22555000	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22555000G>A	ENST00000390451.2	+	0	171																											TGATAGTCCAGAAAGGAGGGA	0.428000													9	65					0	0	0.361761	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213592	1213592	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:1213592C>A	ENST00000304460.10	+	5	734	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	226					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T226T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTACATCACCTCCACGCTGC	0.657000													3	15					0.00024832	0.000270208	0.150653	1	0
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:117718572G>A	ENST00000317775.6	-	8	2167	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.D494D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617000													8	79					0	0	0.335167	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396906	36396906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:36396906C>A	ENST00000317020.6	-	2	619	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	KIAA0895_ENST00000338533.5_Missense_Mutation_p.V145L|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.V107L|KIAA0895_ENST00000436884.1_Missense_Mutation_p.V7L|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.V145L|KIAA0895_ENST00000297063.6_Missense_Mutation_p.V158L	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	158								p.V158L(2)|p.V145L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCTTGTCACAGGCACCAGG	0.473000													19	60					4.26978e-12	5.45272e-12	0.654019	1	0
CNTN2	6900	broad.mit.edu	37	1	205030382	205030382	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:205030382C>A	ENST00000331830.4	+	8	1091	c.807C>A	c.(805-807)ccC>ccA	p.P269P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	269	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P269P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCTGTCCCCCGGATCAAGT	0.652000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	34					6.49762e-13	8.44848e-13	0.539581	1	0
MUC17	140453	broad.mit.edu	37	7	100680895	100680895	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:100680895A>C	ENST00000306151.4	+	3	6262	c.6198A>C	c.(6196-6198)acA>acC	p.T2066T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2066	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2066T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.488000													53	263					0	0	0.870114	0	0
SETBP1	26040	broad.mit.edu	37	18	42533120	42533120	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:42533120G>C	ENST00000282030.5	+	4	4111	c.3815G>C	c.(3814-3816)aGc>aCc	p.S1272T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1272						nucleus	DNA binding	p.S1218T(2)|p.S1272T(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGGTGGCAGCACGAGATCA	0.532000									Schinzel-Giedion syndrome				33	105					0	0	0.769981	0	0
CTNNA3	29119	broad.mit.edu	37	10	68936738	68936738	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:68936738C>G	ENST00000545309.1	-	7	1051	c.1052G>C	c.(1051-1053)tGt>tCt	p.C351S	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron			Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	801					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						cttttgattacagagctgaaa	0.358000													5	39					0	0	0.217242	0	0
UCMA	221044	broad.mit.edu	37	10	13264144	13264144	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:13264144C>A	ENST00000378681.3	-	5	448	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	UCMA_ENST00000463405.2_Missense_Mutation_p.G104C	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	126						proteinaceous extracellular matrix		p.G126C(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGGTGCAGGCCGTCATAGTGC	0.587000													16	69					3.32936e-07	3.85316e-07	0.539581	1	0
GPR63	81491	broad.mit.edu	37	6	97246908	97246908	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:97246908T>G	ENST00000229955.3	-	2	1045	c.700A>C	c.(700-702)Aca>Cca	p.T234P	GPR63_ENST00000417980.1_Missense_Mutation_p.T234P	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	234						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.T234P(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGATTGGTTGTGTACCCAAAC	0.448000													56	186					0	0	0.870114	0	0
RIMS1	22999	broad.mit.edu	37	6	72806785	72806785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:72806785G>T	ENST00000264839.7	+	3	379	c.379G>T	c.(379-381)Ggg>Tgg	p.G127W	RIMS1_ENST00000520567.1_Missense_Mutation_p.G127W|RIMS1_ENST00000521978.1_Missense_Mutation_p.G127W|RIMS1_ENST00000517960.1_Missense_Mutation_p.G127W|RIMS1_ENST00000348717.5_Missense_Mutation_p.G127W|RIMS1_ENST00000522291.1_Missense_Mutation_p.G127W|RIMS1_ENST00000518273.1_Missense_Mutation_p.G127W|RIMS1_ENST00000491071.2_Missense_Mutation_p.G127W			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	127	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G127W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTTTGCTGATGGGTGCGGTCA	0.507000													35	93					1.60099e-16	2.21866e-16	0.804634	1	0
DIP2C	22982	broad.mit.edu	37	10	409175	409175	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:409175C>T	ENST00000280886.6	-	21	2641	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	DIP2C_ENST00000540204.1_Missense_Mutation_p.E173K|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	852						nucleus	catalytic activity|transcription factor binding	p.E852K(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTCCTCTTCCGTGGAGTCA	0.607000													17	35					0	0	0.575678	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986279	51986279	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51986279G>C	ENST00000396477.4	+	4	703	c.682G>C	c.(682-684)Gac>Cac	p.D228H	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D289H	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	289						integral to membrane		p.D289H(2)|p.D228H(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGGGCCCGACTATGTGCT	0.552000													76	214					0	0	0.870114	0	0
KLHL6	89857	broad.mit.edu	37	3	183209920	183209920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:183209920G>C	ENST00000341319.3	-	7	1696	c.1661C>G	c.(1660-1662)gCg>gGg	p.A554G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	554								p.A554G(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTGCAGGGCGCGATACCGCA	0.657000													17	39					0	0	0.654019	0	0
SMC1B	27127	broad.mit.edu	37	22	45802673	45802673	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:45802673T>A	ENST00000357450.4	-	3	371	c.372A>T	c.(370-372)atA>atT	p.I124I	SMC1B_ENST00000404354.3_Silent_p.I124I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	124					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.I124I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATTATGCCTATCTTTTCCA	0.299000													28	90					0	0	0.834066	0	0
CSMD3	114788	broad.mit.edu	37	8	113299394	113299394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113299394G>A	ENST00000297405.5	-	58	9474	c.9230C>T	c.(9229-9231)aCt>aTt	p.T3077I	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22.					integral to membrane|plasma membrane		p.T3037I(1)|p.T3077I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAACGTACAGTACTTTTAGT	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	374					0	0	0.435327	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33631016	33631016	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:33631016G>A	ENST00000504830.1	-	13	2226	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H631Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACAAGGATGTGCTGAAGGG	0.488000										HNSCC(64;0.19)			15	451					0	0	0.575678	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049651	69049651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:69049651C>A	ENST00000295381.3	+	10	1796	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S460R|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S453R|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S452R|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.S420R|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.S153R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S453R(2)|p.S460R(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCCAACAGCAGCAAAATGG	0.478000													26	162					2.47511e-08	2.92438e-08	0.729181	1	0
KDM4A	9682	broad.mit.edu	37	1	44137514	44137514	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:44137514G>A	ENST00000372396.3	+	11	1836	c.1702G>A	c.(1702-1704)Gct>Act	p.A568T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	568					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.A568T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGGAAGCGCCGCTAGAAGTTT	0.612000													6	187					0	0	0.248553	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89196831	89196831	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:89196831C>G	ENST00000390244.2	+	0	84																											AGGTTCACCTCCTCAGCTTCC	0.453000													12	41					0	0	0.479597	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505620	44505620	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:44505620C>T	ENST00000255152.2	+	2	632	c.423C>T	c.(421-423)gcC>gcT	p.A141A	ZSWIM3_ENST00000454862.2_Silent_p.A135A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	141							zinc ion binding	p.A141A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTGACACTGCCGAGAAGTCCC	0.517000													6	78					0	0	0.217242	0	0
GMEB1	10691	broad.mit.edu	37	1	29041146	29041146	+	Missense_Mutation	SNP	C	C	T	rs148243859		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:29041146C>T	ENST00000373816.1	+	10	1691	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	GMEB1_ENST00000294409.2_Missense_Mutation_p.P528L|GMEB1_ENST00000361872.4_Missense_Mutation_p.P518L|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	p.P518L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGCCCCGGACCCAGAA	0.532000													9	112					0	0	0.361761	0	0
OR4D5	219875	broad.mit.edu	37	11	123810656	123810656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:123810656G>T	ENST00000307033.2	+	1	407	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K111N(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGGCATCAAGATCTTCCTGC	0.498000													155	239					4.71032e-111	9.47357e-111	0.870114	1	0
INSL5	10022	broad.mit.edu	37	1	67266839	67266839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:67266839G>T	ENST00000304526.2	-	1	100	c.66C>A	c.(64-66)agC>agA	p.S22R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	22						extracellular region	hormone activity	p.S22R(2)		breast(2)|endometrium(1)|lung(5)	8						CAGACTCCTTGCTCCGCACTT	0.463000													74	148					4.38691e-48	7.94526e-48	0.870114	1	0
FUT8	2530	broad.mit.edu	37	14	66135974	66135974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:66135974G>C	ENST00000360689.5	+	7	2338	c.611G>C	c.(610-612)tGc>tCc	p.C204S	FUT8_ENST00000557164.1_Missense_Mutation_p.C41S|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.C204S|FUT8_ENST00000358307.2_Missense_Mutation_p.C75S|FUT8_ENST00000394585.1_Missense_Mutation_p.C204S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	204					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.C204S(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCAAGGACTGCAGCAAAGCC	0.408000													24	81					0	0	0.706142	0	0
C8B	732	broad.mit.edu	37	1	57409484	57409484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:57409484G>T	ENST00000543257.1	-	9	1529	c.963C>A	c.(961-963)aaC>aaA	p.N321K	C8B_ENST00000371237.4_Missense_Mutation_p.N373K|C8B_ENST00000535057.1_Missense_Mutation_p.N311K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	373	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.N373K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATGGACGTTGTTAAGAGTAT	0.438000													52	296					4.63999e-43	8.18283e-43	0.870114	1	0
IPO8	10526	broad.mit.edu	37	12	30837234	30837234	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:30837234C>A	ENST00000256079.4	-	3	662		c.e3+1			NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCACCACATACCTCACTAAAT	0.398000													66	168					5.04879e-28	8.05705e-28	0.870114	1	0
PALD1	27143	broad.mit.edu	37	10	72293678	72293678	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:72293678G>T	ENST00000263563.6	+	8	1139	c.870_splice	c.e8-1	p.E291_splice		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.E291*(2)									TCTTTCCCAGGAGACCCCCAG	0.652000													5	49					0.000602214	0.000648074	0.184627	1	0
FAM65B	9750	broad.mit.edu	37	6	24843104	24843104	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:24843104C>G	ENST00000259698.4	-	14	2081	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.D586H|FAM65B_ENST00000540914.1_Missense_Mutation_p.D586H|FAM65B_ENST00000538035.1_Missense_Mutation_p.D615H|FAM65B_ENST00000510784.2_Missense_Mutation_p.D620H	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	636					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.D586H(2)|p.D636H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGAATATCATCCAAATTCATG	0.343000													11	42					0	0	0.387290	0	0
NUGGC	389643	broad.mit.edu	37	8	27888782	27888782	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:27888782T>C	ENST00000413272.2	-	15	2028	c.1886A>G	c.(1885-1887)aAa>aGa	p.K629R	NUGGC_ENST00000341513.6_Missense_Mutation_p.K629R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.K629R(4)									GAAATTTTTTTTGCAGCTATC	0.453000													54	343					0	0	0.870114	0	0
CUBN	8029	broad.mit.edu	37	10	17169920	17169920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:17169920G>A	ENST00000377833.4	-	3	321	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CUBN_ENST00000377823.1_Nonsense_Mutation_p.Q86*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	86					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTTTTCTGGATCTAATTT	0.284000													9	70					0	0	0.361761	0	0
OR8B12	219858	broad.mit.edu	37	11	124413479	124413479	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:124413479G>T	ENST00000306842.2	-	1	96	c.72C>A	c.(70-72)atC>atA	p.I24I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I24I(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAGAGGGGGATCCGCAGTC	0.547000													124	173					2.42353e-96	4.85611e-96	0.870114	1	0
SCN11A	11280	broad.mit.edu	37	3	38936055	38936055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:38936055T>A	ENST00000302328.3	-	15	3002	c.2804A>T	c.(2803-2805)cAg>cTg	p.Q935L	SCN11A_ENST00000456224.3_Missense_Mutation_p.Q935L|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q935L|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q935L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	935					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q935L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGATGCGCTGTGCATTATC	0.488000													23	1187					0	0	0.608945	0	0
USP34	9736	broad.mit.edu	37	2	61505418	61505418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:61505418C>A	ENST00000398571.2	-	41	5391	c.5315G>T	c.(5314-5316)aGg>aTg	p.R1772M		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1772					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R1772M(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGGATCTCCCTACTACAAAA	0.338000													27	81					1.61788e-16	2.23918e-16	0.760397	1	0
BAGE2	85319	broad.mit.edu	37	21	11039168	11039168	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:11039168G>A	ENST00000470054.1	-	0	1035									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGACACTAAGGTTTCTAGTGG	0.408000													23	866					0	0	0.667858	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690476	77690476	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:77690476C>A	ENST00000521891.2	+	4	3574	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P	ZFHX4_ENST00000455469.2_Silent_p.P1016P|ZFHX4_ENST00000050961.6_Silent_p.P1016P|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Silent_p.P1016P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGAATCCCGAATCCTGCT	0.483000										HNSCC(33;0.089)			195	337					3.39112e-68	6.59794e-68	0.870114	1	0
TENM4	26011	broad.mit.edu	37	11	78468036	78468036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:78468036C>A	ENST00000278550.7	-	19	3032	c.2570G>T	c.(2569-2571)tGc>tTc	p.C857F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.C857F(4)									CTGGAGGCAGCAGTCAGGGTC	0.537000													20	23					4.72057e-08	5.52878e-08	0.667858	1	0
HYDIN	54768	broad.mit.edu	37	16	70897063	70897063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:70897063G>T	ENST00000393567.2	-	68	11644	c.11494C>A	c.(11494-11496)Cgt>Agt	p.R3832S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3832								p.R3831S(2)|p.R3783S(2)|p.R3831C(1)|p.R3783C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTGGACACGTCCTGAATTA	0.463000													31	195					2.05212e-20	3.00679e-20	0.812448	1	0
OR2W3	343171	broad.mit.edu	37	1	248059622	248059622	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248059622T>A	ENST00000537741.1	+	3	991	c.734T>A	c.(733-735)cTc>cAc	p.L245H	OR2W3_ENST00000360358.3_Missense_Mutation_p.L245H			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245H(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCCATCTCACTGTGGTC	0.512000													14	388					0	0	0.457914	0	0
ZNF713	349075	broad.mit.edu	37	7	55991322	55991322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:55991322G>T	ENST00000429591.2	+	3	236	c.198G>T	c.(196-198)gaG>gaT	p.E66D	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.E66D	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E66D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			gtaagccaGAGGTAATCGCGC	0.453000													13	73					1.3612e-06	1.55359e-06	0.479597	1	0
METTL4	64863	broad.mit.edu	37	18	2566948	2566948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:2566948G>A	ENST00000319888.6	-	2	1066	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL4_ENST00000574538.1_Missense_Mutation_p.P90S			Q8N3J2	METL4_HUMAN	methyltransferase like 4	90					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.P90S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAGTTCAGGTCGAAAAACA	0.368000													50	219					0	0	0.870114	0	0
IL17F	112744	broad.mit.edu	37	6	52109223	52109223	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:52109223G>T	ENST00000336123.4	-	1	112	c.5C>A	c.(4-6)aCa>aAa	p.T2K		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	2					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.T2K(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GGTCTTCACTGTCATGTTGCG	0.448000													9	277					0.00136819	0.00144915	0.411799	1	0
SCAF11	9169	broad.mit.edu	37	12	46320773	46320773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:46320773C>A	ENST00000465950.1	-	1	2975	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V	SCAF11_ENST00000419565.2_Missense_Mutation_p.G904V|SCAF11_ENST00000549162.1_Missense_Mutation_p.G712V|SCAF11_ENST00000369367.3_Missense_Mutation_p.G904V			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	904					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.G904V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTCTCCTGGGGAAGA	0.458000													126	159					1.06126e-43	1.88395e-43	0.870114	1	0
PDGFA	5154	broad.mit.edu	37	7	540753	540753	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:540753C>A	ENST00000402802.3	-	5	987	c.580_splice	c.e5+1	p.D194_splice	PDGFA_ENST00000354513.5_Splice_Site_p.G194_splice	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	0					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.G194*(2)|p.D194Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		AGCCACTCACCCGTGTCCTCT	0.552000													11	77					0.0809354	0.0822371	0.387290	1	0
OR2T8	343172	broad.mit.edu	37	1	248084416	248084416	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248084416G>T	ENST00000319968.4	+	1	97	c.97G>T	c.(97-99)Gtt>Ttt	p.V33F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGAGTATCGTTTTGACCTC	0.483000													32	212					1.8453e-21	2.76023e-21	0.853193	1	0
ERG	2078	broad.mit.edu	37	21	39775598	39775598	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:39775598T>G	ENST00000442448.1	-	6	714	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	ERG_ENST00000398910.1_Missense_Mutation_p.Q148P|ERG_ENST00000398905.1_Missense_Mutation_p.Q141P|ERG_ENST00000417133.2_Missense_Mutation_p.Q148P|ERG_ENST00000453032.2_Missense_Mutation_p.Q49P|ERG_ENST00000398907.1_Missense_Mutation_p.Q141P|ERG_ENST00000288319.7_Missense_Mutation_p.Q141P|ERG_ENST00000398919.2_Missense_Mutation_p.Q148P|ERG_ENST00000398911.1_Missense_Mutation_p.Q148P|ERG_ENST00000398897.1_Missense_Mutation_p.Q49P|ERG_ENST00000429727.2_Intron	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	148	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q148P(2)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCCAGCCACTGCCGCACATG	0.507000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								57	183					0	0	0.870114	0	0
NRSN1	140767	broad.mit.edu	37	6	24134721	24134721	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:24134721A>T	ENST00000378491.4	+	3	467	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	NRSN1_ENST00000378478.1_Missense_Mutation_p.R56W|NRSN1_ENST00000378475.1_Missense_Mutation_p.R56W	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	56					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.R56W(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTAACAGGTGGAGCTC	0.453000													22	101					0	0	0.729181	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377943	48377943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:48377943A>T	ENST00000222002.3	-	5	855	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	239					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.V239E(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTTGTCCACTACATAATCAAC	0.403000													31	84					0	0	0.812448	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432850	73432850	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:73432850C>A	ENST00000263666.4	-	10	2981	c.2867G>T	c.(2866-2868)gGc>gTc	p.G956V	PDZRN3_ENST00000466780.1_Missense_Mutation_p.G613V|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G678V|PDZRN3_ENST00000462146.2_Missense_Mutation_p.G613V|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G673V	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	956							ubiquitin-protein ligase activity|zinc ion binding	p.G956V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGGTCATGCCGCTGCGCTC	0.667000													12	24					0.0135373	0.0140338	0.411799	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794437	15794437	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:15794437G>A	ENST00000550308.1	+	7	1162	c.782G>A	c.(781-783)cGc>cAc	p.R261H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R261H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGGCCTGCCGCCTGGTGCAT	0.552000													11	197					0	0	0.479597	0	0
STXBP1	6812	broad.mit.edu	37	9	130420719	130420719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:130420719C>G	ENST00000373302.3	+	4	374	c.235C>G	c.(235-237)Cca>Gca	p.P79A	STXBP1_ENST00000373299.1_Missense_Mutation_p.P79A	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	79					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.P79A(4)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCATCACTCCATCCGAGAA	0.483000													45	331					0	0	0.870114	0	0
IGSF10	285313	broad.mit.edu	37	3	151154859	151154859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:151154859G>T	ENST00000282466.3	-	6	7489	c.7490C>A	c.(7489-7491)aCa>aAa	p.T2497K	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2497	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.T2497K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCATAAGCTGTTGCTTCTTT	0.388000													131	293					2.77863e-71	5.43578e-71	0.870114	1	0
BNIP2	663	broad.mit.edu	37	15	59961504	59961504	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:59961504T>A	ENST00000267859.3	-	8	1221	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	BNIP2_ENST00000607373.1_Silent_p.T255T|BNIP2_ENST00000415213.2_Silent_p.T317T|AC092755.4_ENST00000441746.1_RNA			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	255					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	p.T255T(2)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAGCCAGAAGTGTTCTGATAA	0.264000													16	51					0	0	0.639603	0	0
HP1BP3	50809	broad.mit.edu	37	1	21074085	21074085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:21074085C>A	ENST00000375003.2	-	7	2249	c.749G>T	c.(748-750)gGg>gTg	p.G250V	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402V			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GAACCCTTTCCCAGAGATCTG	0.373000													17	79					0.00465635	0.00487631	0.681144	1	0
TRMT2B	79979	broad.mit.edu	37	X	100278506	100278506	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:100278506C>T	ENST00000338687.7	-	7	1379	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	TRMT2B_ENST00000372935.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G237R|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G192R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372931.5_Missense_Mutation_p.G237R			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	237							tRNA (uracil-5-)-methyltransferase activity	p.G237R(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATTGTGTGCCCTTGGCTATTG	0.443000													93	139					0	0	0.870114	0	0
REG3A	5068	broad.mit.edu	37	2	79384728	79384728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:79384728C>T	ENST00000393878.1	-	4	684	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	REG3A_ENST00000409839.3_Missense_Mutation_p.G144S|REG3A_ENST00000305165.2_Missense_Mutation_p.G144S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	144	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G144S(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCACAGTGGCCGGGGCTTGAG	0.542000													8	233					0	0	0.278610	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664295	38664295	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:38664295G>A	ENST00000336949.6	+	2	1041	c.96G>A	c.(94-96)gtG>gtA	p.V32V	MID1IP1_ENST00000457894.1_Silent_p.V32V|MID1IP1_ENST00000378474.3_Silent_p.V32V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	32					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		p.V32V(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACCAGACGGTGATGGTGCCCA	0.602000													21	27					0	0	0.654019	0	0
PRUNE2	158471	broad.mit.edu	37	9	79234264	79234264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:79234264C>A	ENST00000428286.1	-	18	9354	c.8154G>T	c.(8152-8154)atG>atT	p.M2718I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.M3076I|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000443509.2_Missense_Mutation_p.M325I|PRUNE2_ENST00000223609.6_Intron			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3076					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.M3076I(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTCCTTCTCCATAGAAGACA	0.428000													5	66					0.00116845	0.00124003	0.217242	1	0
ALMS1P	200420	broad.mit.edu	37	2	73899571	73899571	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:73899571A>G	ENST00000450720.1	+	0	443					NR_003683.2																						GCTCTTTACCAGTTATCCTGA	0.393000													16	103					0	0	0.624587	0	0
MEPE	56955	broad.mit.edu	37	4	88767150	88767150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:88767150C>A	ENST00000497649.2	+	6	1436	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	MEPE_ENST00000424957.3_Missense_Mutation_p.A377E|MEPE_ENST00000395102.4_Missense_Mutation_p.A408E|MEPE_ENST00000560249.1_Missense_Mutation_p.A264E|MEPE_ENST00000540395.1_Missense_Mutation_p.A264E|MEPE_ENST00000361056.3_Missense_Mutation_p.A377E|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	377					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A377E(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACCCTCCTGCACCCTCAAAA	0.438000													15	81					6.31663e-08	7.36597e-08	0.479597	1	0
TET1	80312	broad.mit.edu	37	10	70450858	70450858	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:70450858G>T	ENST00000373644.4	+	12	5907	c.5698G>T	c.(5698-5700)Ggc>Tgc	p.G1900C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1900					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.G1900C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGATGGCCCTGGCATTTCACA	0.567000													16	136					2.35188e-11	2.9647e-11	0.539581	1	0
MAN2C1	4123	broad.mit.edu	37	15	75650895	75650895	+	Missense_Mutation	SNP	C	C	T	rs150018240		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:75650895C>T	ENST00000565683.1	-	20	2373	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	MAN2C1_ENST00000569482.1_Missense_Mutation_p.A771T|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A672T|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A771T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	771					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.A771T(2)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGAACCAGGCGCTGCCCCGC	0.647000													8	14					0	0	0.335167	0	0
C1orf173	127254	broad.mit.edu	37	1	75042610	75042610	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:75042610T>A	ENST00000326665.5	-	13	2405	c.2187A>T	c.(2185-2187)tcA>tcT	p.S729S	C1orf173_ENST00000433746.2_Intron	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	729	Glu-rich.							p.S729S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAATGGCAATGAATCCTTTC	0.383000													6	188					0	0	0.217242	0	0
DENND1A	57706	broad.mit.edu	37	9	126641241	126641241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:126641241C>A	ENST00000373624.2	-	2	278	c.77G>T	c.(76-78)gGc>gTc	p.G26V	DENND1A_ENST00000373620.3_Missense_Mutation_p.G26V|DENND1A_ENST00000394215.2_Missense_Mutation_p.A11S|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373618.1_Missense_Mutation_p.A11S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	26	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.G26V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGAAAGAGTGCCACCTGTCCT	0.373000													56	521					1.88225e-35	3.15865e-35	0.870114	1	0
OR2T10	127069	broad.mit.edu	37	1	248756948	248756948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248756948C>G	ENST00000330500.2	-	1	152	c.122G>C	c.(121-123)tGg>tCg	p.W41S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W41S(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAATATTCCAAGACACAGC	0.423000													67	75					0	0	0.870114	0	0
CSMD2	114784	broad.mit.edu	37	1	34209016	34209016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:34209016C>A	ENST00000373381.4	-	14	2214	c.2038G>T	c.(2038-2040)Gcc>Tcc	p.A680S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4.					integral to membrane|plasma membrane	protein binding	p.A640S(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCTCGGCGGTGGCCCCA	0.617000													13	80					4.14922e-12	5.31773e-12	0.500413	1	0
PLB1	151056	broad.mit.edu	37	2	28843772	28843772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:28843772C>A	ENST00000422425.2	+	48	3465	c.3421C>A	c.(3421-3423)Ctc>Atc	p.L1141I	PLB1_ENST00000327757.5_Missense_Mutation_p.L1152I|PLB1_ENST00000541605.1_Missense_Mutation_p.L117I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1152	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L1141I(1)|p.L1152I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAACCCTTACCTCCTTGGCTT	0.552000													11	480					0.000151284	0.000165965	0.435327	1	0
BPIFB1	92747	broad.mit.edu	37	20	31873972	31873972	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:31873972C>T	ENST00000253354.1	+	2	254	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	31						extracellular space	lipid binding	p.L31L(2)									TTCTCATCCTCGGCCCAAAAG	0.567000													8	44					0	0	0.278610	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95210624	95210624	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:95210624G>T	ENST00000354268.4	+	24	3093	c.3019_splice	c.e24-1	p.G1007_splice	SMARCAD1_ENST00000457823.2_Splice_Site_p.G1009_splice|SMARCAD1_ENST00000509418.1_Splice_Site_p.G577_splice			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1007	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1007V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCTACAGGTGATGAAGGG	0.308000													83	366					1.46924e-35	2.46943e-35	0.870114	1	0
CACNA1E	777	broad.mit.edu	37	1	181759585	181759585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:181759585G>T	ENST00000526775.1	+	43	5899	c.5734G>T	c.(5734-5736)Ggc>Tgc	p.G1912C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1538C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1931C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1882C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1912C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1863C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1931C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1931					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G1931C(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTCAGGAGTGGCCGGAGTGG	0.542000													15	67					7.87624e-14	1.04048e-13	0.639603	1	0
DEFB112	245915	broad.mit.edu	37	6	50011302	50011302	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:50011302C>T	ENST00000322246.4	-	2	327	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	110					defense response to bacterium	extracellular region		p.D110N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGACGTGAGTCTTTAGGGTAC	0.408000													15	64					0	0	0.557998	0	0
BRAT1	221927	broad.mit.edu	37	7	2582880	2582880	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:2582880T>C	ENST00000340611.4	-	6	1137	c.881A>G	c.(880-882)cAc>cGc	p.H294R		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	294					response to ionizing radiation	nucleus	protein binding	p.H294R(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGGTCCCATGTGGGTGGGACC	0.642000													2	7					0	0	0.115264	0	0
OBSCN	84033	broad.mit.edu	37	1	228523918	228523918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:228523918C>A	ENST00000570156.2	+	75	19429	c.19355C>A	c.(19354-19356)tCa>tAa	p.S6452*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S3129*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S5495*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S2614*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S5495*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5495					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.S6077*(2)|p.S6207*(2)|p.S5495*(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCCATCTCAGCACAGGGG	0.572000													16	49					4.96729e-08	5.8114e-08	0.575678	1	0
NLRP4	147945	broad.mit.edu	37	19	56369376	56369376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:56369376C>A	ENST00000301295.6	+	3	1039	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	NLRP4_ENST00000346986.5_Missense_Mutation_p.S206Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.S131Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	206	NACHT.						ATP binding	p.S206Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTTGATTTCCAGAGAGTGG	0.532000													28	120					4.74835e-14	6.28046e-14	0.750413	1	0
WDR27	253769	broad.mit.edu	37	6	170088913	170088913	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:170088913C>A	ENST00000333572.6	-	2	708	c.189_splice	c.e2+1	p.Q63_splice	WDR27_ENST00000448612.1_Splice_Site_p.Q63_splice|WDR27_ENST00000420344.2_Splice_Site_p.Q63_splice|WDR27_ENST00000423258.1_Splice_Site_p.Q63_splice			A2RRH5	WDR27_HUMAN	WD repeat domain 27	63								p.Q63H(6)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTCAATACCTGATGAGAAG	0.468000													151	362					1.3188e-82	2.61326e-82	0.870114	1	0
BIN2	51411	broad.mit.edu	37	12	51689596	51689596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:51689596C>G	ENST00000267012.4	-	9	806	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	BIN2_ENST00000544402.1_Missense_Mutation_p.V223L|BIN2_ENST00000604560.1_Missense_Mutation_p.V222L|BIN2_ENST00000452142.2_Missense_Mutation_p.V217L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	249						cytoplasm	protein binding	p.V249L(2)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTCCCTTCACCACAAAGACT	0.453000													122	250					0	0	0.870114	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988649	103988649	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:103988649A>T	ENST00000370005.3	+	4	674	c.453A>T	c.(451-453)acA>acT	p.T151T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	151					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.T151T(2)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACCACAGCACAGTGCTCGTGT	0.498000													37	54					0	0	0.864702	0	0
NXF1	10482	broad.mit.edu	37	11	62569274	62569274	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:62569274G>A	ENST00000531709.2	-	6	689	c.576C>T	c.(574-576)aaC>aaT	p.N192N	NXF1_ENST00000294172.2_Silent_p.N192N|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000439713.2_Silent_p.N192N|NXF1_ENST00000532297.1_Silent_p.N192N	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	192	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.N192N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGAAGAGTTGATGATGA	0.488000													40	224					0	0	0.859065	0	0
KLK4	9622	broad.mit.edu	37	19	51412025	51412025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51412025C>A	ENST00000324041.1	-	3	284	c.285G>T	c.(283-285)caG>caT	p.Q95H	KLK4_ENST00000431178.2_Missense_Mutation_p.Q46H	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	95	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.Q95H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCACCATCTGGCTCCCTG	0.602000													61	129					4.88506e-25	7.60369e-25	0.870114	1	0
FRY	10129	broad.mit.edu	37	13	32811626	32811626	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:32811626A>T	ENST00000380250.3	+	44	6417	c.5921A>T	c.(5920-5922)gAa>gTa	p.E1974V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.E1974V(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAACTGCCGAACGGAGCCGG	0.532000													6	50					0	0	0.361761	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783353	140783353	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140783353A>T	ENST00000573521.1	+	1	834	c.834A>T	c.(832-834)gcA>gcT	p.A278A	PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCT	0.418000													27	66					0	0	0.740014	0	0
GPR112	139378	broad.mit.edu	37	X	135429796	135429796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:135429796C>T	ENST00000394143.1	+	6	4222	c.3931C>T	c.(3931-3933)Caa>Taa	p.Q1311*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1248*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1311*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1106*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q1311*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGTCACCAAACACATTC	0.443000													132	206					0	0	0.870114	0	0
KLHL1	57626	broad.mit.edu	37	13	70314575	70314575	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:70314575T>A	ENST00000377844.4	-	8	2512	c.1753A>T	c.(1753-1755)Agt>Tgt	p.S585C	KLHL1_ENST00000545028.1_Missense_Mutation_p.S392C	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	585					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S585C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTGACATACTGGCTACAAAT	0.403000													23	160					0	0	0.693898	0	0
ITIH2	3698	broad.mit.edu	37	10	7763676	7763676	+	Missense_Mutation	SNP	C	C	T	rs141514196		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:7763676C>T	ENST00000358415.4	+	8	969	c.803C>T	c.(802-804)gCg>gTg	p.A268V	ITIH2_ENST00000379587.4_Missense_Mutation_p.A257V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A268V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGGAGACTGCGGTAGATGGG	0.552000													13	96					0	0	0.520397	0	0
PLCB1	23236	broad.mit.edu	37	20	8770893	8770893	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:8770893G>T	ENST00000378641.3	+	31	3883	c.3408G>T	c.(3406-3408)ctG>ctT	p.L1136L	PLCB1_ENST00000338037.6_Silent_p.L1136L|PLCB1_ENST00000378637.2_Silent_p.L1136L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1136					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAGATCCTGGATGAAAAGC	0.338000													29	106					2.20474e-14	2.92332e-14	0.788014	1	0
NFIL3	4783	broad.mit.edu	37	9	94172835	94172835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:94172835C>A	ENST00000297689.3	-	2	576	c.182G>T	c.(181-183)cGg>cTg	p.R61L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	61					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R61L(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CCGTTTCCTCCGACATGCAGA	0.433000													52	231					2.84144e-21	4.22089e-21	0.870114	1	0
BRE	9577	broad.mit.edu	37	2	28464261	28464261	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:28464261G>T	ENST00000344773.2	+	9	989		c.e9+1		BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000342045.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.?(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTTTGGCACGTAAGTTCTGC	0.438000													14	189					1.33834e-09	1.61503e-09	0.557998	1	0
KRT6A	3853	broad.mit.edu	37	12	52885477	52885477	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:52885477C>A	ENST00000330722.6	-	2	652	c.584G>T	c.(583-585)tGg>tTg	p.W195L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	195	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.W195L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGGGTCCACTTTGTTTC	0.522000													29	42					2.84144e-21	4.22089e-21	0.870114	1	0
PXDN	7837	broad.mit.edu	37	2	1653089	1653089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:1653089C>A	ENST00000252804.4	-	17	2513	c.2463G>T	c.(2461-2463)tgG>tgT	p.W821C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	821					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.W821C(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAACTGGCCCCACTGCATCA	0.662000													3	17					0.115264	0.116457	0.115264	1	0
PLCD4	84812	broad.mit.edu	37	2	219492945	219492945	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:219492945A>T	ENST00000450993.2	+	7	1305	c.966A>T	c.(964-966)ggA>ggT	p.G322G	PLCD4_ENST00000417849.1_Silent_p.G322G|PLCD4_ENST00000432688.1_Silent_p.G322G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G322G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGTCGAGGGATATATACGGT	0.512000													9	190					0	0	0.411799	0	0
COL3A1	1281	broad.mit.edu	37	2	189872628	189872628	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:189872628G>A	ENST00000304636.3	+	46	3551	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1127	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.Q1127Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGTCAGCAGGGTGCAATCG	0.463000													61	74					0	0	0.870114	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:114107681C>T	ENST00000375418.3	-	1	158	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.K24K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGCTGTTCTCCTTGCAGACAT	0.577000													18	66					0	0	0.608945	0	0
PCDH10	57575	broad.mit.edu	37	4	134084177	134084177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:134084177G>T	ENST00000264360.4	+	4	3669	c.2843G>T	c.(2842-2844)gGc>gTc	p.G948V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	948					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G948V(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAGCTCTGGGCCACTCAGAT	0.483000													28	126					6.28921e-32	1.03281e-31	0.779181	1	0
OR2C3	81472	broad.mit.edu	37	1	247695358	247695358	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247695358C>T	ENST00000366487.3	-	2	817	c.456G>A	c.(454-456)ggG>ggA	p.G152G	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGTCAGACCCCCCAGCCAGG	0.562000													13	25					0	0	0.479597	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036699	58036699	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:58036699C>A	ENST00000556826.1	-	6	1170		c.e6-1		SLC35F4_ENST00000339762.6_Splice_Site|SLC35F4_ENST00000554729.1_Splice_Site	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.?(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAACAAGACCTGGAATGAGA	0.433000													5	36					0.00116845	0.00124003	0.217242	1	0
GUCY2F	2986	broad.mit.edu	37	X	108628501	108628501	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:108628501A>C	ENST00000218006.2	-	16	3258	c.2967T>G	c.(2965-2967)gtT>gtG	p.V989V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	989	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V989V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACTCCAGCAACAACCGGCC	0.478000													4	99					0	0	0.539581	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866251	131866251	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:131866251G>A	ENST00000359827.3	-	18	4343	c.3381C>T	c.(3379-3381)tcC>tcT	p.S1127S	PLXNA4_ENST00000321063.4_Silent_p.S1127S			Q9HCM2	PLXA4_HUMAN	plexin A4	1127	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.S1127S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGAGCAGGGACTGGACGT	0.602000													49	211					0	0	0.870114	0	0
OR13C5	138799	broad.mit.edu	37	9	107361248	107361248	+	Missense_Mutation	SNP	C	C	A	rs141723124	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:107361248C>A	ENST00000374779.2	-	1	540	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149C(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCCTATGATCCAGGACCCAG	0.458000													51	594					6.34439e-16	8.66905e-16	0.870114	1	0
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:166981296A>T	ENST00000061240.2	+	15	2610	c.1963A>T	c.(1963-1965)Aga>Tga	p.R655*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.R678*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	655	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R655*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCAGTACAGAATTTCTGT	0.418000													29	96					0	0	0.812448	0	0
ZNF831	128611	broad.mit.edu	37	20	57829002	57829002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:57829002C>G	ENST00000371030.2	+	5	4238	c.4238C>G	c.(4237-4239)aCt>aGt	p.T1413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1413						intracellular	nucleic acid binding|zinc ion binding	p.T1413S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCACAGCACTGCTGCCACA	0.498000													29	218					0	0	0.779181	0	0
SYT6	148281	broad.mit.edu	37	1	114640465	114640465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:114640465C>A	ENST00000393296.1	-	6	1476	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SYT6_ENST00000369547.1_Missense_Mutation_p.V382L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	467					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.V382L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGATCCCCACACGACAGACT	0.567000													33	216					2.52637e-11	3.18092e-11	0.812448	1	0
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:92101100G>T	ENST00000377067.3	+	2	621	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	83						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q83H(3)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGCTCGCCAGGATATGCAGC	0.438000													53	276					7.22619e-39	1.24774e-38	0.870114	1	0
SORCS3	22986	broad.mit.edu	37	10	106802840	106802840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:106802840C>G	ENST00000369701.3	+	5	1209	c.982C>G	c.(982-984)Cgg>Ggg	p.R328G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	328						integral to membrane	neuropeptide receptor activity	p.R328G(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTTGGAAGACGGTGGCAACT	0.438000													187	471					0	0	0.870114	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241225	109241225	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:109241225G>T	ENST00000370021.1	+	6	862		c.e6-1		PRPF38B_ENST00000370025.4_Splice_Site			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing|RNA splicing	spliceosomal complex		p.?(2)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TGTTTCTGTAGGACCTAGATG	0.353000													50	96					4.6707e-30	7.6005e-30	0.870114	1	0
BAGE2	85319	broad.mit.edu	37	21	11049486	11049486	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:11049486C>A	ENST00000470054.1	-	0	622									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATTGCCAACCTGCACG	0.448000													19	394					1.75199e-13	2.29747e-13	0.717897	1	0
BAG6	7917	broad.mit.edu	37	6	31614237	31614237	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:31614237G>C	ENST00000404765.2	-	8	1141	c.852C>G	c.(850-852)ctC>ctG	p.L284L	BAG6_ENST00000439687.2_Silent_p.L284L|BAG6_ENST00000375976.4_Silent_p.L284L|BAG6_ENST00000362049.6_Silent_p.L284L|BAG6_ENST00000211379.5_Silent_p.L284L|BAG6_ENST00000375964.6_Silent_p.L290L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	290	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.L284L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGAAGGGCTGGAGGCGACTCT	0.582000													7	100					0	0	0.307466	0	0
LCE3D	84648	broad.mit.edu	37	1	152552354	152552354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152552354T>A	ENST00000368787.3	-	2	115	c.59A>T	c.(58-60)aAg>aTg	p.K20M		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	20					keratinization			p.K20M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGGGACACTTGGGTGAGGG	0.602000													55	183					0	0	0.870114	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594437	11594437	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:11594437G>T	ENST00000294484.6	+	18	3513		c.e18-1		PTCHD2_ENST00000389575.3_Splice_Site|PTCHD2_ENST00000304391.6_Splice_Site	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2						cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.?(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTCCCCACAGACCACGTACA	0.627000													6	24					0.0293803	0.0299948	0.248553	1	0
GZMH	2999	broad.mit.edu	37	14	25075914	25075914	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:25075914G>T	ENST00000216338.4	-	5	680	c.636C>A	c.(634-636)gcC>gcA	p.A212A	RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Silent_p.A81A|GZMH_ENST00000382548.4_Silent_p.A126A	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	212	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.A212A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GAATACCTTGGGCTACGTCCT	0.532000													24	122					1.06647e-15	1.4462e-15	0.788014	1	0
BRWD3	254065	broad.mit.edu	37	X	79936970	79936970	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:79936970T>C	ENST00000373275.4	-	40	4740	c.4524A>G	c.(4522-4524)ctA>ctG	p.L1508L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1508								p.L1508L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAGTAGATATAGTGAAAGCC	0.378000													72	80					0	0	0.870114	0	0
ANO6	196527	broad.mit.edu	37	12	45810526	45810526	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:45810526C>T	ENST00000320560.8	+	17	2258	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	ANO6_ENST00000435642.1_Silent_p.L686L|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.L668L|ANO6_ENST00000423947.3_Silent_p.L707L|ANO6_ENST00000425752.2_Silent_p.L686L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	686					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.L686L(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCTTTTCCACTGGCCCCTCT	0.473000													113	150					0	0	0.870114	0	0
F13A1	2162	broad.mit.edu	37	6	6318869	6318869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:6318869C>T	ENST00000264870.3	-	2	294	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	10					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G10E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTTCTGCCTCCAAAGGCGGT	0.478000													87	315					0	0	0.870114	0	0
OR2L3	391192	broad.mit.edu	37	1	248224532	248224532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248224532G>A	ENST00000359959.3	+	1	549	c.549G>A	c.(547-549)atG>atA	p.M183I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M183I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCCAGCAATGGTGACTCTGG	0.463000													118	750					0	0	0.870114	0	0
RBM44	375316	broad.mit.edu	37	2	238726701	238726701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:238726701C>T	ENST00000316997.4	+	3	1274	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S381F	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	380							nucleotide binding|RNA binding	p.S381F(4)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTCAAACTTCCTGGACCTCT	0.378000													9	70					0	0	0.361761	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979967	145979967	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:145979967A>C	ENST00000394413.3	-	7	1417	c.847T>G	c.(847-849)Tcg>Gcg	p.S283A	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S349A|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S286A|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S283A|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S283A|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S272A|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S341A|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S289A|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S283A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.S283A(1)|p.S341A(1)|p.S286A(1)|p.S272A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGAAATCGAAGAGATAATT	0.423000													5	147					0	0	0.184627	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817990	22817990	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:22817990A>G	ENST00000404138.1	+	4	1306	c.795A>G	c.(793-795)ctA>ctG	p.L265L	ZBTB40_ENST00000374651.4_Silent_p.L265L|ZBTB40_ENST00000375647.4_Silent_p.L265L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L265L(2)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TAAAAAAACTAGAAATGTGTT	0.378000													69	182					0	0	0.870114	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995285	140995285	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:140995285C>A	ENST00000285879.4	+	4	2381	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	699							protein binding	p.L699I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTCCTCTTGAGGGAGA	0.562000										HNSCC(15;0.026)			23	30					3.28513e-13	4.28703e-13	0.667858	1	0
ESR1	2099	broad.mit.edu	37	6	152265375	152265375	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:152265375C>A	ENST00000440973.1	+	6	1198	c.828C>A	c.(826-828)ggC>ggA	p.G276G	ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000338799.5_Silent_p.G276G|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Silent_p.G276G|ESR1_ENST00000206249.3_Silent_p.G276G|ESR1_ENST00000544394.1_Silent_p.G103G	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	276	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.G276G(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATGGGGAGGGCAGGGGTGAAG	0.507000													46	154					4.96213e-28	7.93055e-28	0.870114	1	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:98188534C>G	ENST00000332650.5	+	1	211	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433000													168	758					0	0	0.870114	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452						integral to membrane		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358000													14	106					2.48551e-13	3.24748e-13	0.520397	1	0
LOXL4	84171	broad.mit.edu	37	10	100017495	100017495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:100017495G>T	ENST00000260702.3	-	8	1322	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	391	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.P391H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TTCCAGGGCAGGGCAGTCGCT	0.582000													27	47					3.09479e-21	4.59089e-21	0.827153	1	0
UNC13C	440279	broad.mit.edu	37	15	54307745	54307745	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:54307745T>A	ENST00000545554.1	+	1	2645	c.2645T>A	c.(2644-2646)aTg>aAg	p.M882K	UNC13C_ENST00000260323.11_Missense_Mutation_p.M882K|UNC13C_ENST00000537900.1_Missense_Mutation_p.M882K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	882					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.M882K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTGAAGTCATGGAACAAGTC	0.378000													96	198					0	0	0.870114	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204252	151204252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:151204252G>T	ENST00000409426.1	+	4	752	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V103L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.V115L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V102L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	115	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.V115L(2)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATTTCTACGTGGTTGAGAG	0.488000													103	290					1.4093e-69	2.74699e-69	0.870114	1	0
REV1	51455	broad.mit.edu	37	2	100058928	100058928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:100058928G>C	ENST00000258428.3	-	5	582	c.354C>G	c.(352-354)atC>atG	p.I118M	REV1_ENST00000393445.3_Missense_Mutation_p.I118M|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	118	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I118M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCAGCTTTGATGCTGAAAC	0.413000								Direct reversal of damage					7	228					0	0	0.361761	0	0
TFPT	29844	broad.mit.edu	37	19	54618637	54618637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:54618637G>C	ENST00000391759.1	-	1	418	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	TFPT_ENST00000391757.1_Missense_Mutation_p.Q5E	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	5					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	p.Q5E(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCTTCTCTCTGCTCCAATTCC	0.522000			T	TCF3	pre-B ALL						OREG0003633|OREG0003635	type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	35					0	0	0.361761	0	0
TRBV27	28560	broad.mit.edu	37	7	142423595	142423595	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142423595A>G	ENST00000506718.1	+	0	603				TRBV27_ENST00000390399.3_RNA																							GAAGGGTACAAAGTCTCTCGA	0.502000													24	315					0	0	0.654019	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237364	84237364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:84237364G>A	ENST00000324537.5	+	7	787	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	SH3GL3_ENST00000427482.2_Missense_Mutation_p.G91S|SH3GL3_ENST00000535412.1_Missense_Mutation_p.G91S|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G99S			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	91	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G99S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCAGACGGAAGGCTTGCTGGG	0.517000													14	171					0	0	0.520397	0	0
ZNF322	79692	broad.mit.edu	37	6	26637670	26637670	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:26637670G>T	ENST00000415922.2	-	4	1757	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF322_ENST00000471278.1_Missense_Mutation_p.T371K	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.T371K(1)									AATGTGTACTGTCTGATGTTG	0.438000													52	880					4.10826e-27	6.46961e-27	0.870114	1	0
ELF2	1998	broad.mit.edu	37	4	139988852	139988852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:139988852G>C	ENST00000394235.2	-	7	1065	c.563C>G	c.(562-564)cCa>cGa	p.P188R	ELF2_ENST00000265495.4_Missense_Mutation_p.P188R|ELF2_ENST00000358635.3_Missense_Mutation_p.P140R|ELF2_ENST00000379549.2_Intron|ELF2_ENST00000510408.1_Missense_Mutation_p.P128R|ELF2_ENST00000379550.1_Missense_Mutation_p.P200R	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	200					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P188R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TCCTTCTCTTGGTTTCTTCTT	0.358000													33	103					0	0	0.827153	0	0
GRM3	2913	broad.mit.edu	37	7	86415735	86415735	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:86415735C>T	ENST00000361669.2	+	3	1726	c.627C>T	c.(625-627)aaC>aaT	p.N209N	GRM3_ENST00000394720.2_Silent_p.N207N|GRM3_ENST00000439827.1_Silent_p.N209N|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Silent_p.N81N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	209					synaptic transmission	integral to plasma membrane		p.N209N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCTTCTTCAACTGGACCTACG	0.572000													29	154					0	0	0.750413	0	0
WARS2	10352	broad.mit.edu	37	1	119619185	119619185	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:119619185T>C	ENST00000369426.5	-	2	139	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Missense_Mutation_p.I46V			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	46					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.I46V(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AGGTGGAGGATTCCTGTAGGT	0.448000													59	511					0	0	0.870114	0	0
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:21424254C>A	ENST00000304625.2	+	2	414	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418000													69	363					6.00099e-30	9.73574e-30	0.870114	1	0
LIPK	643414	broad.mit.edu	37	10	90486557	90486557	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:90486557G>C	ENST00000404190.1	+	2	111	c.111G>C	c.(109-111)caG>caC	p.Q37H		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	37					lipid catabolic process	extracellular region	hydrolase activity	p.Q37H(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTAGAGCCAGATTATTTCTT	0.313000													14	15					0	0	0.520397	0	0
C9orf64	84267	broad.mit.edu	37	9	86570403	86570403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:86570403C>A	ENST00000376344.3	-	2	706	c.490G>T	c.(490-492)Gga>Tga	p.G164*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.G23*|C9orf64_ENST00000376340.2_Nonsense_Mutation_p.G23*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	164								p.G164*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAAGAGCCTCCAAACTTCTCC	0.443000													14	43					0.00316338	0.00333412	0.479597	1	0
SCN4A	6329	broad.mit.edu	37	17	62018710	62018710	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:62018710C>G	ENST00000578147.1	-	24	5008	c.4932G>C	c.(4930-4932)gtG>gtC	p.V1644V	SCN4A_ENST00000435607.1_Silent_p.V1644V			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1644V(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCAGGGTGTCCACGAAGTCTG	0.567000													15	47					0	0	0.520397	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145419	44145419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:44145419C>G	ENST00000260665.7	-	28	3072	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1005					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.Q1005H(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGGAACTTCCTGGTTACCCT	0.338000													33	121					0	0	0.870114	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412161	43412161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:43412161G>T	ENST00000310826.5	-	3	2227	c.2044C>A	c.(2044-2046)Ctc>Atc	p.L682I	ZBTB21_ENST00000398511.3_Missense_Mutation_p.L682I|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L682I|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.L682I(2)									AATTGAGAGAGAAAGCGGTAC	0.433000													8	101					0.00448238	0.00471045	0.307466	1	0
DCTN5	84516	broad.mit.edu	37	16	23669846	23669846	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:23669846T>G	ENST00000300087.2	+	3	287	c.136T>G	c.(136-138)Tgt>Ggt	p.C46G	DCTN5_ENST00000568589.1_Missense_Mutation_p.C46G|DCTN5_ENST00000563998.1_Missense_Mutation_p.C46G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	46						centrosome	transferase activity	p.C46G(1)		endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GATGAATGACTGTATTATCCG	0.378000													6	249					0	0	0.217242	0	0
UMOD	7369	broad.mit.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:20360484C>A	ENST00000396134.2	-	4	361	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	UMOD_ENST00000396142.2_Missense_Mutation_p.V47F|UMOD_ENST00000424589.1_Missense_Mutation_p.V80F|UMOD_ENST00000396138.4_Missense_Mutation_p.V96F|UMOD_ENST00000570689.1_Missense_Mutation_p.V47F|UMOD_ENST00000302509.4_Missense_Mutation_p.V47F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	47	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612000													3	47					0.004672	0.00487631	0.115264	1	0
KIAA2018	205717	broad.mit.edu	37	3	113375768	113375768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:113375768G>T	ENST00000316407.4	-	7	5171	c.4761C>A	c.(4759-4761)aaC>aaA	p.N1587K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1587K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1587	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.N1587K(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTTATGATGGTTCCGACTAG	0.478000													24	92					1.37878e-21	2.06529e-21	0.654019	1	0
DUSP22	56940	broad.mit.edu	37	6	348110	348110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:348110G>T	ENST00000419235.2	+	6	349	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	DUSP22_ENST00000344450.5_Missense_Mutation_p.G91W|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	91	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G91W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGCCTGGCCGGGGTCTCCAG	0.602000													17	174					1.77063e-15	2.39504e-15	0.693898	1	0
TTN	7273	broad.mit.edu	37	2	179443719	179443719	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179443719T>C	ENST00000589042.1	-	320	68262	c.68038A>G	c.(68038-68040)Atc>Gtc	p.I22680V	TTN_ENST00000460472.2_Missense_Mutation_p.I13615V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13740V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20112V|TTN_ENST00000591111.1_Missense_Mutation_p.I21039V|TTN_ENST00000342175.6_Missense_Mutation_p.I13807V|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21039							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I20110V(1)|p.I13740V(1)|p.I20112V(1)|p.I13615V(1)|p.I13807V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTAGGATATAGTTGGTG	0.478000													11	86					0	0	0.411799	0	0
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:53854397G>C	ENST00000458035.1	+	4	586	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ZNF845_ENST00000595091.1_Missense_Mutation_p.E157Q	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157Q(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408000													7	214					0	0	0.248553	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515025	101515025	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:101515025G>T	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							ttgttaaaaagcagattctga	0.413000													7	20					0.000157383	0.000172128	0.278610	1	0
PRAMEF18	391003	broad.mit.edu	37	1	13474988	13474988	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:13474988T>C	ENST00000376126.2	-	3	1140	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	381								p.T381A(2)		lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCAGAAAGTGGTGAGGTTG	0.562000													30	280					0	0	0.870114	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718254	103718254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:103718254C>A	ENST00000245312.3	-	1	942	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	116					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.A116S(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCAATAGGCCAAGATATTG	0.507000													23	270					8.24728e-16	1.12549e-15	0.681144	1	0
DUOX1	53905	broad.mit.edu	37	15	45444142	45444142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:45444142C>A	ENST00000321429.4	+	25	3492	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	DUOX1_ENST00000561166.1_Missense_Mutation_p.Q675K|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1029K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1029	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.Q1029K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGTCTCCACCAGACGGTGCA	0.587000													15	51					1.15088e-07	1.33771e-07	0.500413	1	0
TBX3	6926	broad.mit.edu	37	12	115114148	115114148	+	Missense_Mutation	SNP	C	C	A	rs140580685	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:115114148C>A	ENST00000349155.2	-	5	1972	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	TBX3_ENST00000257566.3_Missense_Mutation_p.A357S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	357					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.A357S(2)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACAGTGGAGGCGGCTGGAGAA	0.522000													39	33					5.2432e-18	7.45854e-18	0.870114	1	0
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	G	C	rs148764513		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:3002623G>C	ENST00000381127.1	+	6	967	c.746G>C	c.(745-747)cGg>cCg	p.R249P	ARSF_ENST00000359361.2_Missense_Mutation_p.R249P|ARSF_ENST00000537104.1_Missense_Mutation_p.R249P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	249						extracellular region	arylsulfatase activity|metal ion binding	p.R249P(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCATGCGGGGGCACGAG	0.493000													28	36					0	0	0.779181	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36935738	36935738	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:36935738C>T	ENST00000269554.3	-	5	1032	c.552G>A	c.(550-552)ctG>ctA	p.L184L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	184	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	p.L184L(3)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTACATGCCCAGGAACTGTG	0.517000													67	671					0	0	0.870114	0	0
CDH1	999	broad.mit.edu	37	16	68849475	68849475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:68849475G>T	ENST00000261769.5	+	10	1569	c.1378G>T	c.(1378-1380)Gta>Tta	p.V460L	CDH1_ENST00000422392.2_Missense_Mutation_p.V399L|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	460	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.V460L(2)|p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACGAATGTGGTACCTTTTGA	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				47	259					4.44712e-29	7.17149e-29	0.870114	1	0
EPX	8288	broad.mit.edu	37	17	56270730	56270730	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:56270730A>T	ENST00000225371.5	+	3	280		c.e3-1			NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase						hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.?(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCTCCTGGGCAGCATCAAGCA	0.637000													44	251					0	0	0.870114	0	0
TG	7038	broad.mit.edu	37	8	134125713	134125713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:134125713C>A	ENST00000220616.4	+	44	7660	c.7620C>A	c.(7618-7620)taC>taA	p.Y2540*	TG_ENST00000519543.1_Nonsense_Mutation_p.Y673*|TG_ENST00000377869.1_Nonsense_Mutation_p.Y2483*|TG_ENST00000542445.1_Nonsense_Mutation_p.Y910*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2540					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Y2540*(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCCTTTTACCAGGCACTGC	0.488000													72	128					1.02218e-41	1.7909e-41	0.870114	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525673	176525673	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:176525673C>G	ENST00000367662.3	+	2	1379	c.215C>G	c.(214-216)cCc>cGc	p.P72R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P72R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	72					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P72R(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGTCTACCCCAGCAGGGCT	0.557000													181	494					0	0	0.870114	0	0
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:25014018G>A	ENST00000382114.4	-	7	944	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253						extracellular region		p.N253N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCACCATGCAGTTCTCCATGC	0.468000													49	281					0	0	0.870114	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140553818C>A	ENST00000231137.3	+	1	1576	c.1402C>A	c.(1402-1404)Ctg>Atg	p.L468M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632000													17	71					1.12875e-08	1.34102e-08	0.706142	1	0
CCDC63	160762	broad.mit.edu	37	12	111336809	111336809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:111336809G>T	ENST00000308208.5	+	10	1464	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	CCDC63_ENST00000552694.1_Missense_Mutation_p.D329Y|CCDC63_ENST00000545036.1_Missense_Mutation_p.D368Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	408								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAGACCTTGGATCTATTGAA	0.507000													82	81					1.13884e-41	1.99205e-41	0.870114	1	0
NLRP4	147945	broad.mit.edu	37	19	56370026	56370026	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:56370026G>T	ENST00000301295.6	+	3	1689	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W	NLRP4_ENST00000346986.5_Missense_Mutation_p.G423W|NLRP4_ENST00000587891.1_Missense_Mutation_p.G348W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	423	NACHT.						ATP binding	p.G423W(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGAAATGGGGTTGTTGA	0.562000													37	148					1.32136e-16	1.83588e-16	0.840704	1	0
PLB1	151056	broad.mit.edu	37	2	28855858	28855858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:28855858C>A	ENST00000422425.2	+	55	4061	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	PLB1_ENST00000327757.5_Missense_Mutation_p.F1350L|PLB1_ENST00000541605.1_Missense_Mutation_p.F315L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1350	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.F1339L(2)|p.F1350L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTTTCACTTCTCAGACCGCG	0.562000													30	264					1.69901e-12	2.19056e-12	0.812448	1	0
OR2G6	391211	broad.mit.edu	37	1	248685280	248685280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248685280G>A	ENST00000343414.4	+	1	365	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCGTCTGAGTGTATTCTCT	0.552000													50	590					0	0	0.870114	0	0
CACNA1S	779	broad.mit.edu	37	1	201029820	201029820	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:201029820A>G	ENST00000362061.3	-	26	3606	c.3380T>C	c.(3379-3381)cTc>cCc	p.L1127P	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1127P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1127					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.L1127P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAGCATGATGAGGGCAAACAT	0.537000													9	390					0	0	0.387290	0	0
DYRK4	8798	broad.mit.edu	37	12	4722693	4722693	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:4722693A>G	ENST00000540757.2	+	13	1497	c.1337A>G	c.(1336-1338)aAa>aGa	p.K446R	DYRK4_ENST00000545342.1_Missense_Mutation_p.K83R|DYRK4_ENST00000543431.1_Missense_Mutation_p.K445R|DYRK4_ENST00000010132.5_Missense_Mutation_p.K446R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	446						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K847R(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GAGATCACCAAAGAGACTACA	0.438000													21	131					0	0	0.654019	0	0
LGALS17A	400696	broad.mit.edu	37	19	40172828	40172828	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:40172828G>A	ENST00000412609.1	+	0	329																											GTGCATCTCCGTGCTGGCCGA	0.587000													7	21					0	0	0.307466	0	0
CLC	1178	broad.mit.edu	37	19	40228577	40228577	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:40228577C>T	ENST00000221804.4	-	1	91		c.e1+1			NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin						lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TTTTAACTCACGGGTAGCAGG	0.428000													21	690					0	0	0.729181	0	0
RP1L1	94137	broad.mit.edu	37	8	10469886	10469886	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:10469886G>T	ENST00000382483.3	-	4	1945	c.1722C>A	c.(1720-1722)ccC>ccA	p.P574P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	574					intracellular signal transduction			p.P574P(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGAGAAGCGGGGTCGCCTC	0.652000													6	33					0.0293803	0.0299948	0.248553	1	0
TOPORS	10210	broad.mit.edu	37	9	32544246	32544246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:32544246C>G	ENST00000360538.2	-	3	393	c.277G>C	c.(277-279)Gta>Cta	p.V93L	TOPORS_ENST00000379858.1_Missense_Mutation_p.V28L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.V93L(2)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAGCTGGTACTGTCTGTTGC	0.373000													7	102					0	0	0.335167	0	0
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:27196029C>G	ENST00000242159.3	-	1	269	c.136G>C	c.(136-138)Gcc>Ccc	p.A46P		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622000													6	12					0	0	0.248553	0	0
SLC10A7	84068	broad.mit.edu	37	4	147425062	147425062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:147425062C>A	ENST00000432059.2	-	4	581	c.335G>T	c.(334-336)gGt>gTt	p.G112V	SLC10A7_ENST00000507030.1_Missense_Mutation_p.G112V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000335472.7_Missense_Mutation_p.G112V|SLC10A7_ENST00000394062.3_Missense_Mutation_p.G112V|SLC10A7_ENST00000264986.3_Missense_Mutation_p.R66S|SLC10A7_ENST00000511374.1_Missense_Mutation_p.R66S|SLC10A7_ENST00000394059.4_Missense_Mutation_p.G112V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	112						integral to membrane	bile acid:sodium symporter activity	p.G112V(4)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGGCATGCAACCTACTGTCTG	0.373000													19	108					1.87028e-06	2.13236e-06	0.608945	1	0
SLC5A11	115584	broad.mit.edu	37	16	24895432	24895432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:24895432C>T	ENST00000347898.3	+	8	1266	c.644C>T	c.(643-645)gCg>gTg	p.A215V	SLC5A11_ENST00000449109.2_Missense_Mutation_p.A151V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A180V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A180V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A151V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	215					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.A215V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTATAGGAGCGCTCACCTTG	0.592000													91	313					0	0	0.870114	0	0
ALOX5	240	broad.mit.edu	37	10	45907644	45907644	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:45907644T>A	ENST00000374391.2	+	4	490	c.437T>A	c.(436-438)aTg>aAg	p.M146K	ALOX5_ENST00000542434.1_Missense_Mutation_p.M146K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	146	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.M146K(2)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTCAGATGGATGGAGTGGAAC	0.498000													4	74					0	0	0.217242	0	0
OGN	4969	broad.mit.edu	37	9	95165620	95165620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:95165620G>T	ENST00000262551.4	-	2	490	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.Q24K	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	24						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAGTCCTGCTGGGTTGGTGGT	0.383000													34	85					4.14481e-20	6.03188e-20	0.819951	1	0
UGDH	7358	broad.mit.edu	37	4	39515801	39515801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:39515801C>A	ENST00000316423.6	-	3	508	c.166G>T	c.(166-168)Gga>Tga	p.G56*	UGDH_ENST00000501493.2_Nonsense_Mutation_p.G56*|UGDH_ENST00000507089.1_De_novo_Start_OutOfFrame|UGDH_ENST00000506179.1_Nonsense_Mutation_p.G56*|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	56					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.G56*(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TCTTTTAGTCCTGGCTAAAAA	0.313000													11	37					0.0202918	0.0208949	0.457914	1	0
ACRBP	84519	broad.mit.edu	37	12	6756063	6756063	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:6756063G>T	ENST00000229243.2	-	2	252	c.159C>A	c.(157-159)acC>acA	p.T53T	ACRBP_ENST00000536350.1_Silent_p.T53T|ACRBP_ENST00000414226.2_Silent_p.T53T	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	53						acrosomal vesicle|extracellular region		p.T53T(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGCCTTCCAGGTTGGAGTCA	0.607000													10	29					2.68362e-12	3.45588e-12	0.411799	1	0
CNTN6	27255	broad.mit.edu	37	3	1415642	1415642	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:1415642A>C	ENST00000446702.2	+	16	2607	c.1980A>C	c.(1978-1980)gcA>gcC	p.A660A	CNTN6_ENST00000539053.1_Silent_p.A588A|CNTN6_ENST00000350110.2_Silent_p.A660A			Q9UQ52	CNTN6_HUMAN	contactin 6	660	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.A660A(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATACAATGCAACAGTGGTTG	0.388000													45	122					0	0	0.870114	0	0
C4orf22	255119	broad.mit.edu	37	4	81866088	81866088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:81866088C>A	ENST00000358105.3	+	5	650	c.601C>A	c.(601-603)Cca>Aca	p.P201T	C4orf22_ENST00000508675.1_Missense_Mutation_p.P218T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	201								p.P201T(2)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TAATGTGGACCCAAAGGTAAT	0.323000													24	96					1.88708e-17	2.65279e-17	0.729181	1	0
SMARCD3	6604	broad.mit.edu	37	7	150939644	150939644	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:150939644C>A	ENST00000392811.2	-	6	937	c.463G>T	c.(463-465)Gcg>Tcg	p.A155S	SMARCD3_ENST00000356800.2_Missense_Mutation_p.A155S|SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000262188.8_Missense_Mutation_p.A168S	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	p.A155S(2)|p.A168S(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGGCTTCGCAGGGTTAAAA	0.577000													18	46					1.2644e-06	1.44927e-06	0.592651	1	0
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:10822872G>C	ENST00000250237.5	+	6	692	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617000													10	13					0	0	0.457914	0	0
F8	2157	broad.mit.edu	37	X	154157069	154157069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:154157069G>A	ENST00000360256.4	-	14	5196	c.4996C>T	c.(4996-4998)Caa>Taa	p.Q1666*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1666	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q1666*(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTTCCCGTTGATGGCGTTTC	0.408000													24	341					0	0	0.667858	0	0
RBM47	54502	broad.mit.edu	37	4	40440430	40440430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:40440430T>A	ENST00000319592.4	-	4	1190	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.M161L|RBM47_ENST00000381795.6_Missense_Mutation_p.M161L|RBM47_ENST00000514014.1_Missense_Mutation_p.M123L|RBM47_ENST00000295971.7_Missense_Mutation_p.M161L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	161	RRM 2.					nucleus	nucleotide binding|RNA binding	p.M161L(6)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTTCTTCATCTTGGGGATC	0.627000													9	23					0	0	0.335167	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378624	130378624	+	Silent	SNP	G	G	T	rs142020636	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:130378624G>T	ENST00000529410.1	+	11	1220	c.741G>T	c.(739-741)ccG>ccT	p.P247P	L3MBTL3_ENST00000526019.1_Silent_p.P222P|L3MBTL3_ENST00000368136.2_Silent_p.P247P|L3MBTL3_ENST00000361794.2_Silent_p.P247P|L3MBTL3_ENST00000368139.2_Silent_p.P222P|L3MBTL3_ENST00000533560.1_Silent_p.P222P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	247					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.P247P(3)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGGCAGTGCCGGCGAAGCTGT	0.537000													6	22					5.68852e-11	7.11231e-11	0.307466	1	0
HDHD1	8226	broad.mit.edu	37	X	6995465	6995465	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:6995465C>A	ENST00000381077.5	-	3	382	c.306G>T	c.(304-306)ctG>ctT	p.L102L	HDHD1_ENST00000540122.1_Silent_p.L102L|HDHD1_ENST00000412827.2_Silent_p.L59L|HDHD1_ENST00000424830.2_Silent_p.L125L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	102					nucleotide metabolic process		metal ion binding|phosphatase activity	p.L88L(2)		breast(2)|large_intestine(1)|lung(3)	6						CATGTTTCCGCAGGTGGATGA	0.592000													10	44					2.31682e-05	2.57318e-05	0.479597	1	0
LRIT2	340745	broad.mit.edu	37	10	85982089	85982089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:85982089C>A	ENST00000372113.4	-	3	1245	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.G424*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTATTGATTCCGGGGCCAATG	0.557000													64	86					1.15062e-32	1.89593e-32	0.870114	1	0
GTF3C1	2975	broad.mit.edu	37	16	27540011	27540011	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:27540011T>A	ENST00000356183.4	-	6	896	c.881A>T	c.(880-882)tAc>tTc	p.Y294F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y294F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	294						transcription factor TFIIIC complex	DNA binding|protein binding	p.Y294F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATATACTGGTACAGACGCTT	0.453000													21	562					0	0	0.667858	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811918	56811918	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:56811918C>A	ENST00000229201.4	-	27	3605	c.3451_splice	c.e27+1	p.E1151_splice	TIMELESS_ENST00000554616.1_Splice_Site_p.E649_splice|TIMELESS_ENST00000553532.1_Splice_Site_p.E1152_splice	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1152					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.E1152*(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCACTATTACCCTCTGGGGAT	0.532000													112	172					7.55469e-51	1.37989e-50	0.870114	1	0
SLC17A4	10050	broad.mit.edu	37	6	25769244	25769244	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:25769244C>A	ENST00000377905.4	+	3	242	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC17A4_ENST00000439485.2_Silent_p.L41L|SLC17A4_ENST00000397076.2_5'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	41					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.L41L(2)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCCCTCATCTTGCAGC	0.468000													35	123					3.61848e-18	5.16788e-18	0.834066	1	0
PRRC2C	23215	broad.mit.edu	37	1	171482234	171482234	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:171482234C>G	ENST00000367742.3	+	3	455	c.213C>G	c.(211-213)ggC>ggG	p.G71G	PRRC2C_ENST00000338920.4_Silent_p.G69G|PRRC2C_ENST00000426496.2_Silent_p.G69G|PRRC2C_ENST00000392078.3_Silent_p.G71G|PRRC2C_ENST00000476522.1_3'UTR			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	69							protein C-terminus binding	p.G71G(2)									AAAACAAAGGCAATGATCCTA	0.423000													9	379					0	0	0.361761	0	0
BRINP3	339479	broad.mit.edu	37	1	190067423	190067423	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:190067423C>G	ENST00000367462.3	-	8	2257	c.2026G>C	c.(2026-2028)Gac>Cac	p.D676H	FAM5C_ENST00000534846.1_Missense_Mutation_p.D574H|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		676						extracellular region		p.D676H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTTCAGGGTCAAAGTGCATG	0.458000													58	270					0	0	0.870114	0	0
OR6K2	81448	broad.mit.edu	37	1	158670253	158670253	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:158670253T>A	ENST00000359610.2	-	1	233	c.190A>T	c.(190-192)Agt>Tgt	p.S64C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAAAGAGCACTGATAAAAGTA	0.438000													156	386					0	0	0.870114	0	0
PTPN5	84867	broad.mit.edu	37	11	18754824	18754824	+	Silent	SNP	C	C	A	rs116891792	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:18754824C>A	ENST00000396170.1	-	11	2344	c.1080G>T	c.(1078-1080)acG>acT	p.T360T	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Silent_p.T196T|PTPN5_ENST00000396168.1_Silent_p.T368T|PTPN5_ENST00000396167.2_Silent_p.T360T|PTPN5_ENST00000358540.2_Silent_p.T392T|PTPN5_ENST00000396171.4_Silent_p.T392T	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	392	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.T392T(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAATGATGGGCGTGTGCTCCT	0.577000													13	92					1.02788e-11	1.30182e-11	0.520397	1	0
FRMPD2	143162	broad.mit.edu	37	10	49450216	49450216	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:49450216A>T	ENST00000374201.3	-	5	857	c.555T>A	c.(553-555)ggT>ggA	p.G185G	FRMPD2_ENST00000407470.4_Silent_p.G154G|FRMPD2_ENST00000305531.3_Silent_p.G161G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	185	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G185G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAATGGTACCCAGAACCA	0.448000													6	196					0	0	0.307466	0	0
RBM7	10179	broad.mit.edu	37	11	114276519	114276519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:114276519G>T	ENST00000541475.1	+	4	504	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	RBM7_ENST00000540163.1_Missense_Mutation_p.V146L|RBM7_ENST00000375490.5_Missense_Mutation_p.V147L|RBM7_ENST00000545678.1_Missense_Mutation_p.V26L|RBM7_ENST00000544582.1_Missense_Mutation_p.V146L|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.Q143H			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	146					meiosis		nucleotide binding|protein binding|RNA binding	p.V146L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGACAAGCAGTGGTAGGTTG	0.323000													71	115					2.15109e-50	3.91571e-50	0.870114	1	0
C1orf116	79098	broad.mit.edu	37	1	207195442	207195442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:207195442G>T	ENST00000359470.5	-	4	1916	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	C1orf116_ENST00000461135.2_Missense_Mutation_p.S310Y	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	556						cytoplasm|plasma membrane	receptor activity	p.S556Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CAGGCGCTTGGAGCTCTGCTC	0.597000													7	54					0.000274275	0.000297848	0.307466	1	0
MAP2K3	5606	broad.mit.edu	37	17	21201787	21201787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:21201787C>A	ENST00000342679.4	+	2	361	c.112C>A	c.(112-114)Ccc>Acc	p.P38T	MAP2K3_ENST00000316920.6_Missense_Mutation_p.P9T|MAP2K3_ENST00000361818.5_Missense_Mutation_p.P9T	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	38					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P42T(2)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGCACCCAACCCCACGTGAGT	0.582000													8	49					0.0809354	0.0822371	0.387290	1	0
OR9G4	283189	broad.mit.edu	37	11	56510307	56510307	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:56510307T>C	ENST00000302957.3	-	1	980	c.981A>G	c.(979-981)acA>acG	p.T327T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T327T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACCTTCATGTTTGTGGTT	0.363000													79	275					0	0	0.870114	0	0
NID1	4811	broad.mit.edu	37	1	236201439	236201439	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:236201439C>A	ENST00000264187.6	-	5	1332	c.1250G>T	c.(1249-1251)gGc>gTc	p.G417V	NID1_ENST00000366595.3_Missense_Mutation_p.G417V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	417	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G417V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCCCGTATAGCCAGCGACACA	0.542000													30	159					3.11337e-16	4.28688e-16	0.769981	1	0
FAM83C	128876	broad.mit.edu	37	20	33876672	33876672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:33876672G>T	ENST00000374408.3	-	2	699	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	201								p.Y201*(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGAGCAGGTACACAGGGA	0.602000													15	62					2.4624e-09	2.96481e-09	0.575678	1	0
HP1BP3	50809	broad.mit.edu	37	1	21074086	21074086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:21074086C>A	ENST00000375003.2	-	7	2248	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402W			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AACCCTTTCCCAGAGATCTGT	0.368000													17	81					0.00465635	0.00487631	0.681144	1	0
TRAM1	23471	broad.mit.edu	37	8	71512306	71512306	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:71512306T>A	ENST00000521425.1	-	0	913				TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.K45N|TRAM1_ENST00000536748.1_Missense_Mutation_p.K14N			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.K45N(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGATAGAAGCTTTTGCCGTTA	0.368000													47	72					0	0	0.870114	0	0
CARD11	84433	broad.mit.edu	37	7	2985553	2985553	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:2985553C>A	ENST00000396946.4	-	4	661	c.258G>T	c.(256-258)agG>agT	p.R86S	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	86	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R79S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCACATAGCCCCTTTGCCCCT	0.493000			Mis		DLBCL								78	479					1.31215e-26	2.06031e-26	0.870114	1	0
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592000										HNSCC(7;0.00092)			129	187					8.32301e-65	1.60196e-64	0.870114	1	0
ZNF268	10795	broad.mit.edu	37	12	133779409	133779409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:133779409G>T	ENST00000536435.2	+	6	1467	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.Q379H|ZNF268_ENST00000537565.1_Missense_Mutation_p.Q218H|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	379						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTCACACCAGAAAACTCATT	0.388000													11	17					0.0135373	0.0140338	0.411799	1	0
HEPH	9843	broad.mit.edu	37	X	65417580	65417580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:65417580G>T	ENST00000519389.1	+	10	1898	c.1719G>T	c.(1717-1719)tgG>tgT	p.W573C	HEPH_ENST00000343002.2_Missense_Mutation_p.W519C|HEPH_ENST00000441993.2_Missense_Mutation_p.W522C|HEPH_ENST00000374727.3_Missense_Mutation_p.W522C|HEPH_ENST00000336279.5_Missense_Mutation_p.W252C|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	519	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.W519C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATACCGCTGGACAGTCCCCC	0.488000													59	83					2.49387e-53	4.60208e-53	0.870114	1	0
C10orf12	26148	broad.mit.edu	37	10	98743749	98743749	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:98743749T>A	ENST00000286067.2	+	1	2709	c.2602T>A	c.(2602-2604)Ttt>Att	p.F868I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	868								p.F868I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATGACAAACTTTAAATTATC	0.398000													4	123					0	0	0.150653	0	0
DICER1	23405	broad.mit.edu	37	14	95573945	95573945	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:95573945C>T	ENST00000526495.1	-	19	3095	c.2804_splice	c.e19+1	p.R935_splice	DICER1_ENST00000541352.1_Splice_Site_p.R935_splice|DICER1_ENST00000393063.1_Splice_Site_p.R935_splice|DICER1_ENST00000527414.1_Splice_Site_p.R935_splice|DICER1_ENST00000343455.3_Splice_Site_p.R935_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	935	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R935K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATACCTACCTTGGAATGAT	0.418000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				6	153					0	0	0.248553	0	0
PDE8B	8622	broad.mit.edu	37	5	76607850	76607850	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:76607850C>T	ENST00000264917.5	+	2	416	c.371C>T	c.(370-372)cCc>cTc	p.P124L	PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.P124L|PDE8B_ENST00000340978.3_Missense_Mutation_p.P124L|PDE8B_ENST00000346042.3_Missense_Mutation_p.P124L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	124					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.P124L(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGCATCGGGCCCATGAGACTG	0.428000													20	678					0	0	0.667858	0	0
REG1P	5969	broad.mit.edu	37	2	79362922	79362922	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:79362922G>T	ENST00000444841.1	-	0	1416																											AGACTGAGGGGATCAGAGTGT	0.428000													5	10					0.014758	0.0152258	0.184627	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140773147	140773147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140773147C>A	ENST00000398604.2	+	1	767	c.767C>A	c.(766-768)cCc>cAc	p.P256H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1												p.P256H(2)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACATGCCCCCAGGCACG	0.488000													20	35					2.89027e-11	3.61789e-11	0.624587	1	0
PRR16	51334	broad.mit.edu	37	5	120022158	120022158	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:120022158G>T	ENST00000379551.2	+	3	957	c.600G>T	c.(598-600)cgG>cgT	p.R200R	PRR16_ENST00000446965.1_Silent_p.R153R|PRR16_ENST00000505123.1_Silent_p.R153R|PRR16_ENST00000407149.2_Silent_p.R223R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	223	Pro-rich.							p.R200R(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTGATACCCGGTATAACATAA	0.512000													35	169					2.20914e-33	3.65581e-33	0.859065	1	0
STPG2	285555	broad.mit.edu	37	4	98480220	98480220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:98480220C>T	ENST00000295268.3	-	11	1458	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.D457N(2)									CACATTATATCAGCAGCCATT	0.284000													59	249					0	0	0.870114	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182405	57182405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:57182405G>T	ENST00000504228.1	+	6	2842	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A906S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A913S			Q6ZU35	K1211_HUMAN	KIAA1211	913								p.A913S(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCGGAAGCAAGCCCCTTCCAC	0.687000													9	26					4.68919e-08	5.49802e-08	0.361761	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702834	40702834	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:40702834A>C	ENST00000356699.5	+	4	520	c.491A>C	c.(490-492)gAt>gCt	p.D164A	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.D164A(4)									CATCCTCAGGATCTGGCCTCC	0.587000													92	436					0	0	0.870114	0	0
LHCGR	3973	broad.mit.edu	37	2	48941147	48941147	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:48941147T>G	ENST00000294954.7	-	7	604	c.583A>C	c.(583-585)Aat>Cat	p.N195H	LHCGR_ENST00000405626.1_Missense_Mutation_p.N195H|LHCGR_ENST00000403273.1_Missense_Mutation_p.N195H|LHCGR_ENST00000401907.1_Missense_Mutation_p.N195H|LHCGR_ENST00000344775.3_Missense_Mutation_p.N195H|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	195					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.N195H(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCGTCCCATTGAATGCATGA	0.378000													22	198					0	0	0.717897	0	0
TRIM55	84675	broad.mit.edu	37	8	67064862	67064862	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:67064862G>A	ENST00000315962.4	+	8	1609	c.1236_splice	c.e8+1	p.Q412_splice	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Splice_Site_p.Q412_splice|TRIM55_ENST00000353317.5_Splice_Site_p.Q412_splice	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	412						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGTGACACAGGTAACCCCTC	0.542000													33	143					0	0	0.819951	0	0
AE000661.37	0	broad.mit.edu	37	14	22951283	22951283	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22951283G>T	ENST00000514473.2	-	0	107				TRAJ54_ENST00000390484.1_RNA																							GTGTAATTCAGGGAGCCCAGA	0.532000													22	36					9.86323e-18	1.39383e-17	0.667858	1	0
STARD13	90627	broad.mit.edu	37	13	33704350	33704350	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:33704350C>A	ENST00000336934.5	-	5	580	c.464G>T	c.(463-465)cGt>cTt	p.R155L	STARD13_ENST00000255486.4_Missense_Mutation_p.R147L|STARD13_ENST00000399365.3_Missense_Mutation_p.R37L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	155					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R155L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTCGTCCACACGAGACCACCT	0.552000													20	140					1.12875e-08	1.34102e-08	0.706142	1	0
NYNRIN	57523	broad.mit.edu	37	14	24877306	24877306	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:24877306G>T	ENST00000382554.3	+	3	748	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	144					DNA integration	integral to membrane	DNA binding	p.G144C(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGCGCTGGGGCCCTGCCCC	0.687000													5	19					0.00116845	0.00124003	0.217242	1	0
CEP78	84131	broad.mit.edu	37	9	80869847	80869847	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:80869847T>C	ENST00000424347.2	+	11	1636	c.1347T>C	c.(1345-1347)ccT>ccC	p.P449P	CEP78_ENST00000487108.2_3'UTR|CEP78_ENST00000277082.5_Silent_p.P449P|CEP78_ENST00000376598.2_Silent_p.P449P|CEP78_ENST00000415759.2_Silent_p.P450P|CEP78_ENST00000376597.4_Silent_p.P450P			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	449					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.P449P(1)|p.P450P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ATGAAGTGCCTGAGAAAACTA	0.378000													3	80					0	0	0.150653	0	0
OSBPL6	114880	broad.mit.edu	37	2	179259071	179259071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179259071G>T	ENST00000190611.4	+	24	2981	c.2605G>T	c.(2605-2607)Gca>Tca	p.A869S	OSBPL6_ENST00000392505.2_Missense_Mutation_p.A894S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.A873S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.A833S|OSBPL6_ENST00000409045.3_Missense_Mutation_p.A838S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.A833S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	869					lipid transport		lipid binding	p.A894S(2)|p.A869S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGAAGCTGCAGCATCAGAGAA	0.348000													59	171					2.72187e-29	4.40254e-29	0.870114	1	0
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	C	A	rs142051051	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:57876663C>A	ENST00000311585.7	+	2	621	c.251C>A	c.(250-252)gCg>gAg	p.A84E	EDN3_ENST00000337938.2_Missense_Mutation_p.A84E|EDN3_ENST00000371025.3_Missense_Mutation_p.A84E|EDN3_ENST00000371028.2_Missense_Mutation_p.A84E|EDN3_ENST00000395654.3_Missense_Mutation_p.A84E	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	84					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662000													7	19					8.12818e-05	8.94433e-05	0.248553	1	0
NUPL1	9818	broad.mit.edu	37	13	25881957	25881957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:25881957G>T	ENST00000463407.1	+	2	264	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	NUPL1_ENST00000381736.3_Missense_Mutation_p.G41W|NUPL1_ENST00000381718.3_Missense_Mutation_p.G41W|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	41	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.G41W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCCTTCTGTGGGGCTCAATTT	0.378000													12	51					9.05144e-12	1.14908e-11	0.435327	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	189					0	0	0.248553	0	0
IFNA2	3440	broad.mit.edu	37	9	21384955	21384955	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:21384955C>A	ENST00000380206.2	-	1	441	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	125					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G125V(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CACCCCCACCCCCTGTATCAC	0.483000													16	233					3.41278e-10	4.17939e-10	0.520397	1	0
CADPS	8618	broad.mit.edu	37	3	62636588	62636588	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:62636588G>C	ENST00000383710.4	-	5	1486	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	CADPS_ENST00000283269.9_Missense_Mutation_p.I379M|CADPS_ENST00000357948.3_Missense_Mutation_p.I379M|CADPS_ENST00000490353.2_Missense_Mutation_p.I379M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	379					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I379M(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCCCATGTCGATGATGGAAG	0.522000													38	157					0	0	0.840704	0	0
ADAM12	8038	broad.mit.edu	37	10	127753557	127753557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:127753557C>A	ENST00000368679.4	-	14	1745	c.1436G>T	c.(1435-1437)gGa>gTa	p.G479V	ADAM12_ENST00000368676.4_Missense_Mutation_p.G479V|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	479	Disintegrin.		G -> E (in a breast cancer sample; somatic mutation).		cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.G479V(6)|p.G479E(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCACGCTGTTCCTGCAGGCTT	0.607000													9	25					0.000673444	0.000721835	0.361761	1	0
OR2M7	391196	broad.mit.edu	37	1	248487866	248487866	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248487866G>T	ENST00000317965.2	-	1	33	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2E(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCTCCCATGCCATGATGAA	0.428000													107	536					9.84861e-36	1.6579e-35	0.870114	1	0
RAB3C	115827	broad.mit.edu	37	5	58120870	58120870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:58120870C>A	ENST00000282878.4	+	4	546	c.377C>A	c.(376-378)aCt>aAt	p.T126N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	126					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.T126N(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGTCAACTCAAATCAAA	0.418000													68	405					1.7458e-18	2.49999e-18	0.870114	1	0
IGSF5	150084	broad.mit.edu	37	21	41137527	41137527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:41137527G>T	ENST00000380588.4	+	3	269	c.166G>T	c.(166-168)Gct>Tct	p.A56S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	56	Ig-like V-type 1.					integral to membrane|tight junction		p.A56S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGGCTCCCAGGCTCGCTTCAA	0.527000													65	138					1.25089e-41	2.18448e-41	0.870114	1	0
TARSL2	123283	broad.mit.edu	37	15	102197168	102197168	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:102197168C>T	ENST00000335968.3	-	18	2433	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	739					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.K739K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGTATTTTCTTATTTAGTG	0.313000													10	24					0	0	0.435327	0	0
CD163	9332	broad.mit.edu	37	12	7636092	7636092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:7636092C>A	ENST00000359156.4	-	12	3161	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	CD163_ENST00000432237.2_Missense_Mutation_p.G987W|CD163_ENST00000541972.1_Missense_Mutation_p.G975W|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.G1020W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGTCCAGTCCCCTGACCAAAC	0.517000													49	148					2.47907e-22	3.72902e-22	0.870114	1	0
FRAS1	80144	broad.mit.edu	37	4	79367972	79367972	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:79367972T>A	ENST00000264895.6	+	43	6388	c.5948T>A	c.(5947-5949)cTg>cAg	p.L1983Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1982					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L1983Q(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTTTGAGCCTGCAAGACCTG	0.478000													5	48					0	0	0.184627	0	0
CALHM2	51063	broad.mit.edu	37	10	105209690	105209690	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:105209690G>T	ENST00000393235.1	-	3	1206	c.9C>A	c.(7-9)gcC>gcA	p.A3A	CALHM2_ENST00000260743.5_Silent_p.A3A|CALHM2_ENST00000369788.3_Silent_p.A3A|CALHM2_ENST00000494180.1_5'UTR			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	3						integral to membrane		p.A3A(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGCGATCAGGGCTGCCATGG	0.587000													19	30					6.32553e-13	8.24468e-13	0.681144	1	0
PHF14	9678	broad.mit.edu	37	7	11022088	11022088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:11022088G>T	ENST00000403050.3	+	3	654	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	68	Glu/Lys-rich.						zinc ion binding	p.E68*(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TATTTTAGAAGAAGAACTGAA	0.313000													15	29					3.52763e-06	4.00071e-06	0.520397	1	0
SHPRH	257218	broad.mit.edu	37	6	146262871	146262871	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:146262871C>G	ENST00000367503.3	-	10	2776	c.2378G>C	c.(2377-2379)cGt>cCt	p.R793P	SHPRH_ENST00000275233.7_Missense_Mutation_p.R793P|SHPRH_ENST00000367505.2_Missense_Mutation_p.R793P|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R793P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCGTAGGCGACGCCCATCCTC	0.468000													25	69					0	0	0.693898	0	0
NNMT	4837	broad.mit.edu	37	11	114182861	114182861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:114182861C>T	ENST00000535401.1	+	5	721	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P153S|NNMT_ENST00000542647.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	153					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGGGCCGTCCCCTTACCCCC	0.622000													6	115					0	0	0.248553	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449458	124449458	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:124449458G>T	ENST00000523984.1	+	5	440	c.212G>T	c.(211-213)aGa>aTa	p.R71I	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.R131I|WDYHV1_ENST00000287387.2_Missense_Mutation_p.R131I|WDYHV1_ENST00000518125.1_5'UTR			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	131					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.R131I(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AGGAAATTTAGAGTGATCCGT	0.408000													12	104					6.72482e-11	8.36902e-11	0.479597	1	0
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:10930655C>A	ENST00000283141.6	+	19	1837	c.1541C>A	c.(1540-1542)aCc>aAc	p.T514N	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358000													10	119					1.76689e-08	2.09222e-08	0.335167	1	0
ZP1	22917	broad.mit.edu	37	11	60636728	60636728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:60636728G>T	ENST00000278853.5	+	2	307	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	103					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V103L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGCCACGTGCTGGAGAA	0.572000													4	17					0.00116845	0.00124003	0.217242	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407714	105407714	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:105407714C>T	ENST00000333244.5	-	7	14193	c.14074G>A	c.(14074-14076)Gaa>Aaa	p.E4692K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4692						nucleus		p.E4692K(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTCCAACTTCTCCAACAGCA	0.413000													4	16					0	0	0.184627	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628585	20628585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:20628585G>T	ENST00000525748.1	+	4	985	c.712G>T	c.(712-714)Gct>Tct	p.A238S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	238					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A238S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATGATGCTGGCTCTGGCTGG	0.567000													41	66					8.30282e-39	1.42904e-38	0.870114	1	0
KIF27	55582	broad.mit.edu	37	9	86506225	86506225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:86506225T>A	ENST00000297814.2	-	6	1937	c.1794A>T	c.(1792-1794)agA>agT	p.R598S	KIF27_ENST00000334204.2_Missense_Mutation_p.R598S|KIF27_ENST00000413982.1_Missense_Mutation_p.R598S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	598					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R598S(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGGAATCTTGTCTTGATGGGA	0.358000													22	163					0	0	0.681144	0	0
FHDC1	85462	broad.mit.edu	37	4	153889217	153889217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:153889217G>A	ENST00000511601.1	+	10	1374	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E396K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	396	FH2.				actin cytoskeleton organization		actin binding	p.E396K(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGGGATGGTGAACTTTGTCA	0.453000													29	93					0	0	0.740014	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336927	162336927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:162336927G>T	ENST00000493151.1	+	2	2673	c.306G>T	c.(304-306)gaG>gaT	p.E102D	NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E397D|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E392D|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E83D	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	397	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.E397D(4)|p.E102D(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTAAGCCAGAGGACCTGCATT	0.667000													22	96					9.57634e-11	1.18764e-10	0.654019	1	0
RFC3	5983	broad.mit.edu	37	13	34404943	34404943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:34404943A>T	ENST00000380071.3	+	6	791	c.661A>T	c.(661-663)Aga>Tga	p.R221*	RFC3_ENST00000434425.1_Nonsense_Mutation_p.R221*	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.R221*(4)		lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAAGTCTTGTAGAAATCTCAG	0.433000													23	125					0	0	0.750413	0	0
IGLON5	402665	broad.mit.edu	37	19	51828677	51828677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51828677G>T	ENST00000270642.8	+	4	469	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	157	Ig-like C2-type 2.					extracellular region		p.V157L(2)		large_intestine(5)|lung(6)|prostate(1)	12						TTGCCTGGCCGTGGGGCGGCC	0.667000													11	20					6.72482e-11	8.36902e-11	0.479597	1	0
CSMD3	114788	broad.mit.edu	37	8	113569119	113569119	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113569119T>A	ENST00000297405.5	-	25	4351	c.4107A>T	c.(4105-4107)caA>caT	p.Q1369H	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q1369H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q1329H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q1265H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7.					integral to membrane|plasma membrane		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAGTGGCCTTGGTCACTGA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			63	139					0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75097613	75097613	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:75097613C>G	ENST00000326665.5	-	7	822		c.e7-1		C1orf173_ENST00000420661.2_Splice_Site	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173									p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTGCCCTGTAATCATA	0.368000													21	407					0	0	0.639603	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596192	24596192	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:24596192G>C	ENST00000535378.1	-	4	1325	c.683C>G	c.(682-684)cCc>cGc	p.P228R	KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237R|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.P237R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCGGCAAGGGAAGCAACAC	0.547000													5	132					0	0	0.217242	0	0
IFT80	57560	broad.mit.edu	37	3	159998598	159998598	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:159998598T>A	ENST00000326448.7	-	15	1953	c.1521A>T	c.(1519-1521)acA>acT	p.T507T	RP11-432B6.3_ENST00000483754.1_Silent_p.T678T|IFT80_ENST00000496589.1_Silent_p.T370T|IFT80_ENST00000483465.1_Silent_p.T370T	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	507						cilium axoneme|microtubule basal body		p.T507T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATGCACCATTGTTCCTTAAT	0.313000													19	37					0	0	0.608945	0	0
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:37026967G>C	ENST00000358047.3	+	1	536	c.484G>C	c.(484-486)Gca>Cca	p.A162P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTGGAGGACGCAGGCTCTTG	0.582000													22	16					0	0	0.639603	0	0
FAM171B	165215	broad.mit.edu	37	2	187626258	187626258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:187626258G>T	ENST00000304698.5	+	8	1392	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	397						integral to membrane	DNA binding	p.V397F(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAACTTGAGGTCCTCAAGAG	0.358000													89	265					1.2136e-71	2.37848e-71	0.870114	1	0
KIAA0020	9933	broad.mit.edu	37	9	2820099	2820099	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:2820099C>A	ENST00000397885.2	-	13	1395		c.e13-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum|nucleolus	RNA binding	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGTATTGGCCCTGCAAGAATT	0.403000													10	97					2.31682e-05	2.57318e-05	0.479597	1	0
SAMHD1	25939	broad.mit.edu	37	20	35540928	35540928	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:35540928G>A	ENST00000262878.4	-	10	1289	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.H149Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	364					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.H364Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGCGAGTGTGGAACATGTCA	0.328000													39	113					0	0	0.870114	0	0
GPR141	353345	broad.mit.edu	37	7	37780650	37780650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:37780650C>A	ENST00000447769.1	+	4	944	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GPR141_ENST00000334425.1_Missense_Mutation_p.Q219K|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	219						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q219K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTATCCCACCAGGAGTTCTG	0.418000													123	549					9.13576e-48	1.65182e-47	0.870114	1	0
KIAA0930	23313	broad.mit.edu	37	22	45598869	45598869	+	Splice_Site	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:45598869A>C	ENST00000336156.4	-	7	918		c.e7+1		KIAA0930_ENST00000443310.3_Splice_Site|KIAA0930_ENST00000251993.7_Splice_Site|KIAA0930_ENST00000391627.2_Splice_Site	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding	p.?(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCAGCCCTTACCCGCTCGTG	0.652000													12	12					0	0	0.435327	0	0
MYO1G	64005	broad.mit.edu	37	7	45011815	45011815	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:45011815C>G	ENST00000258787.7	-	6	764	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	210	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.G210R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTCACTGCCTCTCAGCAAC	0.507000													8	21					0	0	0.335167	0	0
RAB15	376267	broad.mit.edu	37	14	65417768	65417768	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:65417768C>T	ENST00000267512.5	-	4	428	c.348G>A	c.(346-348)ccG>ccA	p.P116P	CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000533601.2_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000436278.2_Silent_p.P70P|RAB15_ENST00000426039.3_Intron	NM_198686.2	NP_941959.1	P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.P116P(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CTCCACACCCCGGCAGTGAGG	0.562000													3	54					0	0	0.115264	0	0
CHPF	79586	broad.mit.edu	37	2	220404338	220404338	+	Missense_Mutation	SNP	C	C	G	rs149014949		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:220404338C>G	ENST00000243776.6	-	4	2343	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	CHPF_ENST00000535926.1_Missense_Mutation_p.E537Q	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	699						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.E699Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCAGCTCCTCTTCTTGTTCT	0.647000													4	51					0	0	0.278610	0	0
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:141734530G>T	ENST00000475668.2	+	16	1902	c.1848G>T	c.(1846-1848)gcG>gcT	p.A616A	MGAM_ENST00000549489.2_Silent_p.A616A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	616	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A616A(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCTTTGCGGGCTCTGGCA	0.498000													22	181					1.42536e-11	1.79886e-11	0.681144	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55064991	55064991	+	RNA	SNP	G	G	T	rs115145648	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:55064991G>T	ENST00000526016.1	-	0	434					NR_038174.2																						CCATGTTCAGGTTTCTGAGAT	0.403000													4	139					0.0293803	0.0299948	0.248553	1	0
ADAM20	8748	broad.mit.edu	37	14	70991190	70991190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:70991190C>A	ENST00000256389.3	-	2	679	c.435G>T	c.(433-435)caG>caT	p.Q145H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	95					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q145H(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAGGGCATGCTGCTCTGTGT	0.522000													84	461					5.70515e-31	9.3547e-31	0.870114	1	0
SNHG14	104472715	broad.mit.edu	37	15	25448271	25448271	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:25448271T>C	ENST00000424208.1	+	0	2117				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCTGGTGTGCTGAAGCTCAGG	0.647000													2	7					0	0	0.115264	0	0
KLHL20	27252	broad.mit.edu	37	1	173735426	173735426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:173735426G>T	ENST00000209884.4	+	8	1429	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E242D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	431					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.E431D(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTGTTGAGAGGTGATCTT	0.428000													151	353					2.18101e-91	4.34584e-91	0.870114	1	0
MGAM	8972	broad.mit.edu	37	7	141755465	141755465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:141755465C>A	ENST00000475668.2	+	28	3476	c.3422C>A	c.(3421-3423)tCc>tAc	p.S1141Y	MGAM_ENST00000549489.2_Missense_Mutation_p.S1141Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1141	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1141Y(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCACAGGTCCTATAGGAGA	0.542000													41	93					4.86159e-25	7.57816e-25	0.870114	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73165952	73165952	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:73165952A>T	ENST00000545377.1	+	21	2660	c.2484A>T	c.(2482-2484)gcA>gcT	p.A828A	ARHGEF28_ENST00000296799.4_Silent_p.A515A|ARHGEF28_ENST00000287898.5_Silent_p.A828A|ARHGEF28_ENST00000513042.2_Silent_p.A828A|ARHGEF28_ENST00000426542.2_Silent_p.A828A|ARHGEF28_ENST00000296794.6_Silent_p.A828A|ARHGEF28_ENST00000437974.1_Silent_p.A828A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A828A(4)									AGTTTGAAGCAGAATCTTGGA	0.408000													94	309					0	0	0.870114	0	0
OR51D1	390038	broad.mit.edu	37	11	4661635	4661635	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:4661635C>G	ENST00000357605.2	+	1	691	c.615C>G	c.(613-615)acC>acG	p.T205T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T205T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTGACACCAGGGTCAATG	0.468000													220	506					0	0	0.870114	0	0
MYH14	79784	broad.mit.edu	37	19	50779265	50779265	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:50779265G>C	ENST00000440075.2	+	28	3532	c.3485G>C	c.(3484-3486)gGg>gCg	p.G1162A	MYH14_ENST00000262269.8_Missense_Mutation_p.G1162A|MYH14_ENST00000376970.2_Missense_Mutation_p.G1154A|MYH14_ENST00000425460.1_Missense_Mutation_p.G1129A|MYH14_ENST00000601313.1_Missense_Mutation_p.G1162A|MYH14_ENST00000598205.1_Missense_Mutation_p.G1129A|MYH14_ENST00000596571.1_Missense_Mutation_p.G1121A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1121					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G1121A(2)|p.G1162A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGAGGGTGGGGCCCGGGCC	0.647000													3	14					0	0	0.115264	0	0
MGAM	8972	broad.mit.edu	37	7	141765177	141765177	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:141765177C>A	ENST00000475668.2	+	38	4581	c.4527C>A	c.(4525-4527)acC>acA	p.T1509T	MGAM_ENST00000549489.2_Silent_p.T1509T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1509	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.T1509T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGTCATCACCCGCTCCACAT	0.597000													15	14					1.02788e-11	1.30182e-11	0.520397	1	0
STK31	56164	broad.mit.edu	37	7	23826529	23826529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:23826529C>A	ENST00000354639.3	+	20	2868	c.2404C>A	c.(2404-2406)Cct>Act	p.P802T	STK31_ENST00000433467.2_Missense_Mutation_p.P825T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.P825T|STK31_ENST00000428484.1_Missense_Mutation_p.P802T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.P825T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCAACATGCCTTTAAATTC	0.368000													63	521					4.59617e-45	8.21345e-45	0.870114	1	0
VWF	7450	broad.mit.edu	37	12	6135206	6135206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:6135206C>A	ENST00000261405.5	-	23	3228	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	992	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.V992L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCACACACTTTCTCCTTG	0.557000													34	196					3.61848e-18	5.16788e-18	0.834066	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045525	142045525	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142045525C>A	ENST00000390392.3	+	0	164																											CCCGCAGTCCCCATGGAAACG	0.478000													28	375					1.39806e-14	1.85601e-14	0.729181	1	0
CFHR5	81494	broad.mit.edu	37	1	196967432	196967432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:196967432C>A	ENST00000367414.5	+	7	1273	c.1217C>A	c.(1216-1218)aCa>aAa	p.T406K	CFHR5_ENST00000256785.4_Missense_Mutation_p.T382K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	382	Sushi 7.				complement activation, alternative pathway	extracellular region		p.T382K(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAGACTGCACAGGTAAGATT	0.294000													13	68					3.45872e-05	3.8335e-05	0.500413	1	0
GAK	2580	broad.mit.edu	37	4	905514	905514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:905514T>A	ENST00000314167.4	-	4	439	c.329A>T	c.(328-330)gAg>gTg	p.E110V	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	110	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.E110V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTCTGACTCCTCTTTTCCTAT	0.507000													5	32					0	0	0.278610	0	0
ENAH	55740	broad.mit.edu	37	1	225699552	225699552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:225699552C>A	ENST00000366844.2	-	10	1883	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	ENAH_ENST00000366843.2_Nonsense_Mutation_p.E478*|ENAH_ENST00000284563.6_Nonsense_Mutation_p.E725*	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	478	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	p.E478*(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTACAGGCTCTGAATCTTCC	0.313000													10	28					0.0202918	0.0208949	0.457914	1	0
CNTN2	6900	broad.mit.edu	37	1	205042265	205042265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:205042265C>A	ENST00000331830.4	+	22	3198	c.2914C>A	c.(2914-2916)Cca>Aca	p.P972T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	972	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P972T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATAGAAATCCCAGTGCCTGA	0.557000													15	85					1.49906e-05	1.67359e-05	0.457914	1	0
SPEG	10290	broad.mit.edu	37	2	220353298	220353298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:220353298G>T	ENST00000312358.7	+	33	8069	c.7937G>T	c.(7936-7938)cGg>cTg	p.R2646L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2646	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2646L(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCATCCCCCGGGCGGGCAAG	0.642000													4	13					1.024e-07	1.19282e-07	0.184627	1	0
TMEM176A	55365	broad.mit.edu	37	7	150500824	150500824	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:150500824C>T	ENST00000484928.1	+	5	1040	c.459C>T	c.(457-459)atC>atT	p.I153I	TMEM176A_ENST00000004103.3_Silent_p.I153I|TMEM176A_ENST00000461345.1_Silent_p.I94I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	153						integral to membrane		p.I153I(2)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCGCATCTCCAGCTCGA	0.512000													26	55					0	0	0.729181	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775904	77775904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:77775904G>C	ENST00000521891.2	+	11	10402	c.9954G>C	c.(9952-9954)caG>caC	p.Q3318H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3273H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3269H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3292H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3269						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q3302H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTTgcagcagtaccaacagt	0.527000										HNSCC(33;0.089)			12	23					0	0	0.387290	0	0
PTH2R	5746	broad.mit.edu	37	2	209302554	209302554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:209302554C>A	ENST00000272847.2	+	4	572	c.359C>A	c.(358-360)gCc>gAc	p.A120D	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	120						integral to plasma membrane	parathyroid hormone receptor activity	p.A120D(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AAAACATGGGCCAATTATTCA	0.403000													12	176					1.99824e-07	2.31761e-07	0.520397	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811061	69811061	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:69811061C>T	ENST00000251566.4	-	2	857	c.827G>A	c.(826-828)gGa>gAa	p.G276E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	276						integral to membrane	glucuronosyltransferase activity	p.G276E(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAATCCTCCAACAAACTC	0.368000													46	210					0	0	0.870114	0	0
COL11A1	1301	broad.mit.edu	37	1	103347308	103347308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:103347308G>T	ENST00000358392.2	-	65	5338	c.5021C>A	c.(5020-5022)tCa>tAa	p.S1674*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.S1546*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.S1662*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.S1623*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1662	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.S1674*(1)|p.S1662*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTGGCCATGATGAAATTCT	0.318000													10	86					9.31168e-06	1.0483e-05	0.435327	1	0
ZNF592	9640	broad.mit.edu	37	15	85326477	85326477	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:85326477G>C	ENST00000299927.3	+	1	593	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	ZNF592_ENST00000560079.2_Missense_Mutation_p.V191L			Q92610	ZN592_HUMAN	zinc finger protein 592	191					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAGTTTCCGGTTCCAGAGCT	0.537000													29	89					0	0	0.729181	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872401	125872401	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:125872401C>G	ENST00000393434.2	-	7	1093	c.744G>C	c.(742-744)acG>acC	p.T248T	ALDH1L1_ENST00000472186.1_Silent_p.T248T|ALDH1L1_ENST00000455064.2_Silent_p.T73T|ALDH1L1_ENST00000273450.3_Silent_p.T258T|ALDH1L1_ENST00000452905.2_Silent_p.T147T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000393431.2_Silent_p.T248T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	248					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.T248T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGTGTTCAGCGTTGAGTTGA	0.562000													13	70					0	0	0.479597	0	0
ABCA9	10350	broad.mit.edu	37	17	67039769	67039769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:67039769C>A	ENST00000340001.4	-	6	872	c.661G>T	c.(661-663)Gtt>Ttt	p.V221F	ABCA9_ENST00000453985.2_Missense_Mutation_p.V221F|ABCA9_ENST00000370732.2_Missense_Mutation_p.V221F|ABCA9_ENST00000495634.1_Missense_Mutation_p.V221F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	221					transport	integral to membrane	ATP binding|ATPase activity	p.V221F(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCAGTTGCAACTCCTCCTTGG	0.328000													31	227					2.1956e-27	3.47798e-27	0.796494	1	0
CPEB1	64506	broad.mit.edu	37	15	83215961	83215961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:83215961G>A	ENST00000563800.1	-	10	3232	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*	RP11-152F13.10_ENST00000562833.1_Silent_p.T210T|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.Q476*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.Q479*|CPEB1_ENST00000568757.1_Nonsense_Mutation_p.Q401*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.Q481*|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000398591.2_Nonsense_Mutation_p.Q406*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.Q250*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	481	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.Q406*(2)|p.Q476*(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAACTCCGTTGGTTATTGAAA	0.413000													25	92					0	0	0.717897	0	0
SOAT2	8435	broad.mit.edu	37	12	53515143	53515143	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:53515143C>T	ENST00000301466.3	+	12	1254	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	398					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.V398V(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACGTGGTGGTCCATGACTGGC	0.567000													8	140					0	0	0.361761	0	0
FCGBP	8857	broad.mit.edu	37	19	40433455	40433455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:40433455G>T	ENST00000221347.6	-	2	821	c.814C>A	c.(814-816)Cag>Aag	p.Q272K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	272	IgGFc-binding.					extracellular region	protein binding	p.Q272K(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTGTGGCCTGGCTGGCCACA	0.602000													13	49					3.45872e-05	3.8335e-05	0.500413	1	0
GBP1	2633	broad.mit.edu	37	1	89523812	89523812	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:89523812T>G	ENST00000370473.4	-	6	956	c.737A>C	c.(736-738)aAg>aCg	p.K246T		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	246					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.K246T(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTGGGCAAGCTTCCTGCGGTG	0.433000													8	233					0	0	0.411799	0	0
PAXIP1	22976	broad.mit.edu	37	7	154775016	154775016	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:154775016C>A	ENST00000404141.1	-	5	505	c.351G>T	c.(349-351)ctG>ctT	p.L117L	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.L117L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	117	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.L83L(2)|p.L117L(2)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCAAAGCCCACAGGGCACTTC	0.423000													4	77					2.0095e-06	2.28623e-06	0.248553	1	0
ZAN	7455	broad.mit.edu	37	7	100382441	100382441	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:100382441T>C	ENST00000542585.1	+	0	6964				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.H2272H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGATGCCCATGGTGGCTCCA	0.582000													5	52					0	0	0.248553	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604640	108604640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:108604640C>A	ENST00000264047.2	+	2	305	c.29C>A	c.(28-30)gCt>gAt	p.A10D	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A10D|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	10					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.A10D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGACTGATAGCTATCATCGTG	0.443000													49	162					7.91745e-34	1.31835e-33	0.870114	1	0
OR10S1	219873	broad.mit.edu	37	11	123848123	123848123	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:123848123G>T	ENST00000531945.1	-	1	365	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATGACCTTGGGCACTGTCA	0.547000													16	275					3.62473e-10	4.42885e-10	0.608945	1	0
ZNF419	79744	broad.mit.edu	37	19	58005013	58005013	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:58005013G>A	ENST00000424930.2	+	5	1320	c.1091G>A	c.(1090-1092)cGt>cAt	p.R364H	AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.R351H|ZNF419_ENST00000415379.2_Missense_Mutation_p.R317H|ZNF419_ENST00000442920.2_Missense_Mutation_p.R350H|ZNF419_ENST00000354197.4_Missense_Mutation_p.R351H|ZNF419_ENST00000347466.6_Missense_Mutation_p.R331H|ZNF419_ENST00000221735.7_Missense_Mutation_p.R363H	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R331H(1)|p.R338H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAACATTGGCGTGTTCATACT	0.413000													4	105					0	0	0.150653	0	0
CHST13	166012	broad.mit.edu	37	3	126255153	126255153	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:126255153G>C	ENST00000319340.2	+	2	187	c.137G>C	c.(136-138)gGg>gCg	p.G46A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	46					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.G46A(2)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGGCTTGGTGGGGAGAAGAGA	0.607000													7	29					0	0	0.435327	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5319167	5319167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:5319167C>A	ENST00000274181.7	+	23	3729	c.3591C>A	c.(3589-3591)tgC>tgA	p.C1197*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1197	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1197*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCACTGGTGCTACCTGGTAC	0.532000													41	99					3.54909e-21	5.24308e-21	0.859065	1	0
UMODL1	89766	broad.mit.edu	37	21	43524089	43524089	+	Missense_Mutation	SNP	G	G	T	rs150059583		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:43524089G>T	ENST00000400427.1	+	9	1591	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	UMODL1_ENST00000400424.1_Missense_Mutation_p.V399L|UMODL1_ENST00000408989.2_Missense_Mutation_p.V471L|UMODL1_ENST00000408910.2_Missense_Mutation_p.V471L|C21orf128_ENST00000329015.2_Missense_Mutation_p.H48Q	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	471	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.H48Q(4)|p.V399L(2)|p.V471L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGCTCACCGTGCAGGACCC	0.607000													17	71					7.21436e-19	1.03586e-18	0.575678	1	0
PLXND1	23129	broad.mit.edu	37	3	129279567	129279567	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:129279567C>G	ENST00000393239.1	-	30	5172		c.e30-1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(2)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AAGTCTTTCACTGTGAGAGGA	0.483000													6	15					0	0	0.278610	0	0
UNC5B	219699	broad.mit.edu	37	10	73047403	73047403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:73047403G>T	ENST00000335350.6	+	6	1198	c.782G>T	c.(781-783)cGc>cTc	p.R261L	UNC5B_ENST00000373192.4_Missense_Mutation_p.R261L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	261	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.R261L(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCTCCAACCGCTGTGGCCGA	0.667000													9	35					5.4927e-09	6.58389e-09	0.307466	1	0
KIRREL3	84623	broad.mit.edu	37	11	126306857	126306857	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:126306857G>A	ENST00000525144.2	-	12	1650	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	KIRREL3_ENST00000529097.2_Silent_p.R467R|KIRREL3_ENST00000525704.2_Silent_p.R467R|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	467	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R467R(4)|p.R426R(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCACCGTATAGCGCCCCGATG	0.642000													6	17					0	0	0.248553	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719903	52719903	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:52719903A>T	ENST00000322088.6	+	9	1173	c.1115A>T	c.(1114-1116)cAg>cTg	p.Q372L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q317L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q193L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	372	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.Q372L(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCCTGGCTCAGCTGAAGGAT	0.552000			Mis		clear cell ovarian carcinoma								28	77					0	0	0.779181	0	0
CALU	813	broad.mit.edu	37	7	128394426	128394426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:128394426G>T	ENST00000535623.1	+	4	1299	c.356G>T	c.(355-357)cGa>cTa	p.R119L	CALU_ENST00000249364.4_Missense_Mutation_p.R111L|CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.R111L|CALU_ENST00000479257.1_Missense_Mutation_p.R119L|CALU_ENST00000449187.2_Intron	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	111	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	p.R111L(2)		kidney(2)|large_intestine(3)|lung(5)	10						GATGTAGAGCGACAGTGGAAG	0.483000													33	84					1.57351e-24	2.43861e-24	0.788014	1	0
ZNF285	26974	broad.mit.edu	37	19	44891467	44891467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:44891467T>A	ENST00000330997.4	-	4	1004	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K314*|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K321*	NM_152354.3	NP_689567.3			zinc finger protein 285									p.K314*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGTAGGGTTTGTCTCCTGAG	0.502000													17	132					0	0	0.592651	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644305	45644305	+	RNA	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:45644305T>G	ENST00000427229.2	+	0	476																											TTTGAAGATTTTTACCTAGAA	0.348000													28	66					0	0	0.804634	0	0
TPO	7173	broad.mit.edu	37	2	1544403	1544403	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:1544403G>A	ENST00000345913.4	+	16	2747	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E713K|TPO_ENST00000382198.1_Missense_Mutation_p.E713K|TPO_ENST00000382201.3_Missense_Mutation_p.E829K|TPO_ENST00000346956.3_Missense_Mutation_p.E842K|TPO_ENST00000337415.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.E886K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	886					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E886K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCATCTCGGAGACAGGCGG	0.642000													10	55					0	0	0.387290	0	0
LETMD1	25875	broad.mit.edu	37	12	51442900	51442900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:51442900G>T	ENST00000418425.2	+	2	225	c.206G>T	c.(205-207)gGg>gTg	p.G69V	LETMD1_ENST00000550929.1_Missense_Mutation_p.G13V|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.G69V|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.G69V|LETMD1_ENST00000262055.4_Missense_Mutation_p.G69V	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	69	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding	p.G69V(2)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCGATTAATGGGAAATACCAT	0.398000													41	64					4.17328e-34	6.95979e-34	0.870114	1	0
MAML2	84441	broad.mit.edu	37	11	95713012	95713012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:95713012C>T	ENST00000524717.1	-	5	3855	c.2571G>A	c.(2569-2571)atG>atA	p.M857I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	857					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.M857I(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATAATGATGGCATTCTTGTCC	0.413000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								14	212					0	0	0.500413	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036447	33036447	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:33036447G>A	ENST00000419277.1	-	5	892	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.R255W	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	255					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.R255W(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCCTGGGCCCGGGGGTCATGG	0.542000													6	56					0	0	0.278610	0	0
RICTOR	253260	broad.mit.edu	37	5	38947422	38947422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:38947422C>A	ENST00000357387.3	-	32	4288	c.4258G>T	c.(4258-4260)Ggt>Tgt	p.G1420C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1444C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1420					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G1420C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATCTGAACCCCCATATGTG	0.383000													64	434					3.56499e-28	5.71463e-28	0.870114	1	0
MCPH1	79648	broad.mit.edu	37	8	6338368	6338368	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:6338368C>T	ENST00000344683.5	+	11	2183	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	703	BRCT 2.					microtubule organizing center		p.R703C(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAATTGCGCGTGGCTGCTG	0.512000													15	100					0	0	0.539581	0	0
VWA5A	4013	broad.mit.edu	37	11	124007382	124007382	+	Splice_Site	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:124007382G>C	ENST00000456829.2	+	14	1876		c.e14+1		VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Splice_Site	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A									p.?(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGATGTCAAGTGAGAATTCA	0.488000													30	306					0	0	0.819951	0	0
EDA2R	60401	broad.mit.edu	37	X	65824892	65824892	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:65824892G>A	ENST00000374719.3	-	3	320	c.264C>T	c.(262-264)ccC>ccT	p.P88P	EDA2R_ENST00000396050.1_Silent_p.P88P|EDA2R_ENST00000456230.2_Silent_p.P88P|EDA2R_ENST00000253392.5_Silent_p.P88P|EDA2R_ENST00000450752.1_Silent_p.P88P|EDA2R_ENST00000451436.2_Intron	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	88					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.P88P(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCTCACCTGGGCAAACAGT	0.478000													19	28					0	0	0.575678	0	0
MNDA	4332	broad.mit.edu	37	1	158815548	158815548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:158815548C>A	ENST00000368141.4	+	5	1003	c.742C>A	c.(742-744)Cat>Aat	p.H248N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	248	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H248N(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAATATTTCCATGTGAAAGT	0.378000													51	149					1.40541e-12	1.81856e-12	0.870114	1	0
PHOX2B	8929	broad.mit.edu	37	4	41750491	41750491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:41750491G>T	ENST00000226382.2	-	1	496	c.137C>A	c.(136-138)cCg>cAg	p.P46Q	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	46					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.P46Q(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGTCCTTATCGGGTTATACTG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	52					0.00116845	0.00124003	0.217242	1	0
TSPAN33	340348	broad.mit.edu	37	7	128806740	128806740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:128806740C>A	ENST00000289407.4	+	6	690	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	194						integral to membrane		p.P194H(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGCCTACTCCTGACCAGGTG	0.557000													38	131					1.465e-08	1.73858e-08	0.840704	1	0
USO1	8615	broad.mit.edu	37	4	76703986	76703986	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:76703986T>A	ENST00000538159.1	+	9	836	c.836T>A	c.(835-837)gTg>gAg	p.V279E	USO1_ENST00000514213.2_Missense_Mutation_p.V262E			O60763	USO1_HUMAN	USO1 vesicle transport factor	277	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.V279E(1)|p.V205E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCACAGAAAGTGACCAATCTA	0.338000													5	130					0	0	0.248553	0	0
PRKCB	5579	broad.mit.edu	37	16	24046867	24046867	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:24046867C>A	ENST00000303531.7	+	5	680	c.529_splice	c.e5+1	p.L176_splice	PRKCB_ENST00000321728.7_Splice_Site_p.L176_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	176	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.L176L(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCATTGTCCTCGGTAGGTGGC	0.647000													29	129					9.65021e-13	1.25173e-12	0.750413	1	0
LRRC66	339977	broad.mit.edu	37	4	52860545	52860545	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:52860545T>G	ENST00000343457.3	-	4	2649	c.2643A>C	c.(2641-2643)taA>taC	p.*881Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	0						integral to membrane		p.*881Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGATTCTTATTTTAAAA	0.383000													12	159					0	0	0.411799	0	0
REG1P	5969	broad.mit.edu	37	2	79364020	79364020	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:79364020C>A	ENST00000444841.1	-	0	318																											AGCACAGACACCAGGTTACCT	0.517000													28	207					6.97489e-18	9.88262e-18	0.804634	1	0
EXT2	2132	broad.mit.edu	37	11	44228502	44228502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:44228502G>T	ENST00000395673.3	+	10	1810	c.1754G>T	c.(1753-1755)gGt>gTt	p.G585V	EXT2_ENST00000343631.3_Missense_Mutation_p.G552V|EXT2_ENST00000358681.4_Missense_Mutation_p.G562V|EXT2_ENST00000533608.1_Missense_Mutation_p.G552V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGCAATTTGGTTATGAGGTA	0.348000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				71	314					1.4648e-57	2.74077e-57	0.870114	1	0
IGHG1	3500	broad.mit.edu	37	14	106208131	106208131	+	RNA	SNP	C	C	G	rs1127807		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:106208131C>G	ENST00000390548.2	-	0	671																											CTCGGGGCTGCCCTGTAGGGA	0.647000													23	42					0	0	0.750413	0	0
GNAQ	2776	broad.mit.edu	37	9	80537207	80537207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:80537207C>A	ENST00000286548.4	-	2	413	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	64					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.G64V(2)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTATCCTGACCCATGGATGAT	0.483000			Mis		uveal melanoma								181	635					4.16634e-53	7.66207e-53	0.870114	1	0
GAS2	2620	broad.mit.edu	37	11	22707259	22707259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:22707259G>T	ENST00000454584.2	+	3	496	c.191G>T	c.(190-192)gGt>gTt	p.G64V	GAS2_ENST00000433790.1_Missense_Mutation_p.G64V|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Missense_Mutation_p.G64V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	64	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		p.G64V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTGGACAATGGTGCCTTGCTC	0.383000													25	149					1.2476e-16	1.73565e-16	0.706142	1	0
COL25A1	84570	broad.mit.edu	37	4	109861765	109861765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:109861765C>A	ENST00000399132.1	-	10	1132	c.602G>T	c.(601-603)gGc>gTc	p.G201V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G201V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G197V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	201	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G201V(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGAGGGCCAGGGGGTCC	0.562000													5	67					0.000157383	0.000172128	0.278610	1	0
PCDH17	27253	broad.mit.edu	37	13	58209184	58209184	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:58209184G>C	ENST00000377918.3	+	1	2530	c.2504G>C	c.(2503-2505)aGc>aCc	p.S835T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	835					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S835T(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCACACCAGCTTCACCGGA	0.577000													4	22					0	0	0.150653	0	0
CD109	135228	broad.mit.edu	37	6	74440084	74440084	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:74440084A>T	ENST00000437994.2	+	4	725	c.294A>T	c.(292-294)gcA>gcT	p.A98A	CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Silent_p.A98A	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	98						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A98A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACAGTGCAGATGAGATTT	0.373000													32	113					0	0	0.847076	0	0
DSG3	1830	broad.mit.edu	37	18	29046538	29046538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:29046538C>A	ENST00000257189.4	+	11	1540	c.1457C>A	c.(1456-1458)cCc>cAc	p.P486H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	486	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P486H(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAGAGTACCCGATTTCAAT	0.378000													15	231					2.94398e-08	3.46313e-08	0.557998	1	0
RHOJ	57381	broad.mit.edu	37	14	63671738	63671738	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:63671738G>A	ENST00000316754.3	+	1	613	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RHOJ_ENST00000555125.1_Missense_Mutation_p.V51M|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	51					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.V51M(3)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAGGAATACGTGCCCACTGT	0.557000													28	208					0	0	0.827153	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651332	1651332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:1651332G>T	ENST00000399676.2	+	1	300	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	88	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G88C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCAAAGGGGGCTGTGGCTC	0.662000													8	107					5.50884e-06	6.22789e-06	0.411799	1	0
NPY2R	4887	broad.mit.edu	37	4	156135962	156135962	+	Missense_Mutation	SNP	G	G	T	rs147783618		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:156135962G>T	ENST00000329476.3	+	2	1360	c.871G>T	c.(871-873)Gtt>Ttt	p.V291F	NPY2R_ENST00000506608.1_Missense_Mutation_p.V291F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	291					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.V291F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAGCTTGCCGTTGACATTGA	0.527000													14	85					9.05144e-12	1.14908e-11	0.435327	1	0
LCE4A	199834	broad.mit.edu	37	1	152681629	152681629	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152681629C>T	ENST00000368777.1	+	2	334	c.78C>T	c.(76-78)ccC>ccT	p.P26P	LCE4A_ENST00000335535.3_Silent_p.P26P			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	26	Cys-rich.				keratinization			p.P26P(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAAAATGTCCCTCAAAGTGTG	0.572000													49	305					0	0	0.870114	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202398051	202398051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:202398051G>T	ENST00000406302.3	+	6	1068	c.915G>T	c.(913-915)caG>caT	p.Q305H	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q305H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	305					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.Q305H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAAGAAGCAGAATGTGGTGA	0.453000													17	88					6.33239e-15	8.49062e-15	0.592651	1	0
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:12880890G>T	ENST00000155926.4	+	3	2421	c.1002G>T	c.(1000-1002)atG>atT	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512000													48	179					9.53978e-28	1.51564e-27	0.870114	1	0
TNRC6C	57690	broad.mit.edu	37	17	76047196	76047196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:76047196G>A	ENST00000335749.4	+	3	2622	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	TNRC6C_ENST00000541771.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V685M|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V685M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	685	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.V685M(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCTTCTGTGAAACAGAC	0.552000													9	22					0	0	0.387290	0	0
GJB1	2705	broad.mit.edu	37	X	70443680	70443680	+	Missense_Mutation	SNP	G	G	T	rs116840816		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:70443680G>T	ENST00000374022.3	+	2	218	c.123G>T	c.(121-123)gaG>gaT	p.E41D	GJB1_ENST00000374029.1_Missense_Mutation_p.E41D|GJB1_ENST00000361726.6_Missense_Mutation_p.E41D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	41			E -> K (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	p.E41D(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTGCAGAGAGTGTGTGGG	0.532000													34	63					1.16512e-39	2.02155e-39	0.827153	1	0
SLC17A9	63910	broad.mit.edu	37	20	61588903	61588903	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:61588903T>C	ENST00000370349.3	+	4	554	c.350T>C	c.(349-351)tTc>tCc	p.F117S	SLC17A9_ENST00000370351.4_Missense_Mutation_p.F123S|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	123					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.F123S(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTCATGACCTTCTCACGCATC	0.647000													3	30					0	0	0.115264	0	0
DEPDC7	91614	broad.mit.edu	37	11	33054339	33054339	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:33054339G>A	ENST00000311388.3	+	7	1612	c.1236_splice	c.e7+1	p.K412_splice	DEPDC7_ENST00000241051.3_Splice_Site_p.K421_splice	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	421					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.K421K(2)|p.K412K(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ATGTTTTTAAGGTAAAATTGT	0.294000													18	88					0	0	0.654019	0	0
RIMS2	9699	broad.mit.edu	37	8	104943527	104943527	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:104943527A>G	ENST00000507740.1	+	9	1893	c.1657A>G	c.(1657-1659)Ata>Gta	p.I553V	RIMS2_ENST00000436393.2_Missense_Mutation_p.I539V|RIMS2_ENST00000406091.3_Missense_Mutation_p.I761V|RIMS2_ENST00000262231.10_Missense_Mutation_p.I600V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	823					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.I553V(4)|p.I828V(2)|p.I539V(2)|p.I761V(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACCAATTAATAGTTACAAT	0.338000										HNSCC(12;0.0054)			14	126					0	0	0.500413	0	0
C1QB	713	broad.mit.edu	37	1	22986096	22986096	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:22986096C>A	ENST00000509305.1	+	2	487	c.141C>A	c.(139-141)ccC>ccA	p.P47P	C1QB_ENST00000314933.6_Silent_p.P49P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	49	Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.P49P(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTGGCCCCGATGGCCAAC	0.602000													26	60					1.06801e-11	1.35105e-11	0.740014	1	0
LAMA2	3908	broad.mit.edu	37	6	129511367	129511367	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:129511367A>T	ENST00000421865.2	+	11	1534	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	495	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G495G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAAGGAGGAGACTGTAGTC	0.403000													38	125					0	0	0.870114	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530120	80530120	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:80530120C>A	ENST00000295057.3	-	2	1481	c.825G>T	c.(823-825)gtG>gtT	p.V275V	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.V275V	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	275						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V275V(4)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGTCTCGAACACATGGGGCT	0.582000										HNSCC(69;0.2)			8	28					0.00448238	0.00471045	0.307466	1	0
ARMC5	79798	broad.mit.edu	37	16	31471201	31471201	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:31471201C>T	ENST00000457010.2	+	1	1057	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ARMC5_ENST00000538189.1_Missense_Mutation_p.P151L|ARMC5_ENST00000563544.1_Missense_Mutation_p.P119L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P214L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P119L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	119							binding	p.P214L(2)|p.P119L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGTCTAGTCCTACGCCGCCA	0.726000													7	20					0	0	0.278610	0	0
OR2M7	391196	broad.mit.edu	37	1	248487614	248487614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248487614A>T	ENST00000317965.2	-	1	285	c.257T>A	c.(256-258)tTg>tAg	p.L86*		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L86*(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCAGACAAGTAGTTGAA	0.493000													261	865					0	0	0.870114	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414155	38414155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:38414155C>A	ENST00000377694.1	-	2	528	c.506G>T	c.(505-507)gGg>gTg	p.G169V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	169	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding	p.G169V(2)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CACCTGCGCCCCGGTGACGTT	0.577000													15	76					4.35082e-09	5.22682e-09	0.592651	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:46032564G>T	ENST00000334662.2	+	1	569	c.547G>T	c.(547-549)Gct>Tct	p.A183S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A183S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGGGCTTCCTCTCT	0.632000													93	338					1.8585e-67	3.60945e-67	0.870114	1	0
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652000													5	11					0	0	0.248553	0	0
LIG4	3981	broad.mit.edu	37	13	108861585	108861585	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:108861585G>A	ENST00000356922.4	-	2	2304	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	LIG4_ENST00000442234.1_Silent_p.L678L|LIG4_ENST00000405925.1_Silent_p.L678L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	678	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.L678L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGTTCTCCAGGTCAGGCTTT	0.383000								Non-homologous end-joining					8	26					0	0	0.361761	0	0
DCHS2	54798	broad.mit.edu	37	4	155298498	155298498	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:155298498G>T	ENST00000357232.3	-	3	332	c.333C>A	c.(331-333)atC>atA	p.I111I	DCHS2_ENST00000339452.1_Silent_p.I717I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	111	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I111I(2)|p.I717I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGAGGGTCGATCCGGAATG	0.463000													179	561					3.24732e-118	6.55567e-118	0.870114	1	0
LRRC7	57554	broad.mit.edu	37	1	70504811	70504811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:70504811A>G	ENST00000310961.5	+	22	3623	c.3205A>G	c.(3205-3207)Aaa>Gaa	p.K1069E	LRRC7_ENST00000035383.5_Missense_Mutation_p.K1064E|LRRC7_ENST00000415775.2_Missense_Mutation_p.K348E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1064						centrosome|focal adhesion|nucleolus	protein binding	p.K1064E(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCAGCAAAAACATCGC	0.463000													20	54					0	0	0.592651	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936140	94936140	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:94936140C>G	ENST00000337425.5	-	2	166	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G31A|SERPINA9_ENST00000380365.3_Missense_Mutation_p.G13A	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	13					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.G31A(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGCACAGAGGCCAACAGCAAA	0.517000													255	843					0	0	0.870114	0	0
C9orf72	203228	broad.mit.edu	37	9	27556699	27556699	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:27556699C>T	ENST00000380003.3	-	8	1014	c.951G>A	c.(949-951)caG>caA	p.Q317Q	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	317								p.Q317Q(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AGGGTGGCATCTGCTTCACAG	0.473000													12	176					0	0	0.479597	0	0
VSNL1	7447	broad.mit.edu	37	2	17836616	17836616	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:17836616C>A	ENST00000406397.1	+	4	1056	c.531C>A	c.(529-531)agC>agA	p.S177R	VSNL1_ENST00000404666.2_Missense_Mutation_p.S177R|VSNL1_ENST00000295156.4_Missense_Mutation_p.S177R			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4.						calcium ion binding	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443000													35	318					6.07928e-31	9.95296e-31	0.847076	1	0
HSPH1	10808	broad.mit.edu	37	13	31713001	31713001	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:31713001C>T	ENST00000320027.5	-	16	2469	c.2125G>A	c.(2125-2127)Gct>Act	p.A709T	HSPH1_ENST00000380406.5_Missense_Mutation_p.A668T|HSPH1_ENST00000429785.2_Missense_Mutation_p.A528T|HSPH1_ENST00000445273.2_Missense_Mutation_p.A711T|HSPH1_ENST00000380405.4_Missense_Mutation_p.A665T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	709					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.A709T(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGTTCTTCAGCTTCCTGAAAC	0.328000													17	139					0	0	0.608945	0	0
XIST	7503	broad.mit.edu	37	X	73066574	73066574	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:73066574G>T	ENST00000429829.1	-	0	6014					NR_001564.2																						ACACATATTGGGAGGCCAAGA	0.468000													5	60					0.014758	0.0152258	0.184627	1	0
CLCN4	1183	broad.mit.edu	37	X	10176257	10176257	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:10176257G>C	ENST00000380833.4	+	9	1407	c.1016G>C	c.(1015-1017)gGg>gCg	p.G339A	CLCN4_ENST00000421085.2_Missense_Mutation_p.G245A|CLCN4_ENST00000380829.1_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	339						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.G339A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCTGCTTGGGGTCTTCGGG	0.572000													9	245					0	0	0.479597	0	0
LTBP1	4052	broad.mit.edu	37	2	33359928	33359928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:33359928G>T	ENST00000404816.2	+	5	1455	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	LTBP1_ENST00000407925.1_Missense_Mutation_p.G42C|LTBP1_ENST00000418533.2_Missense_Mutation_p.G42C|LTBP1_ENST00000354476.3_Missense_Mutation_p.G368C|LTBP1_ENST00000404525.1_Missense_Mutation_p.G42C|LTBP1_ENST00000402934.1_Missense_Mutation_p.G42C|LTBP1_ENST00000390003.4_Missense_Mutation_p.G42C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	368					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G368C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACCAAGGGCAGCTGTCA	0.547000													67	192					6.5469e-37	1.11256e-36	0.870114	1	0
ZNF268	10795	broad.mit.edu	37	12	133779410	133779410	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:133779410A>T	ENST00000536435.2	+	6	1468	c.1138A>T	c.(1138-1140)Aaa>Taa	p.K380*	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.K380*|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.K219*|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	380						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTCACACCAGAAAACTCATTC	0.388000													11	17					0	0	0.411799	0	0
GRID1	2894	broad.mit.edu	37	10	87628799	87628799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:87628799C>A	ENST00000327946.7	-	6	1004	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	307						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D307Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCTGGGGGTCGCAGAGCAGG	0.582000										Multiple Myeloma(13;0.14)			77	113					4.02937e-33	6.65776e-33	0.870114	1	0
SETBP1	26040	broad.mit.edu	37	18	42533086	42533086	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:42533086A>G	ENST00000282030.5	+	4	4077	c.3781A>G	c.(3781-3783)Aaa>Gaa	p.K1261E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1261						nucleus	DNA binding	p.K1261E(1)|p.K1207E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCATGCACGAAAAGATACTC	0.537000									Schinzel-Giedion syndrome				4	95					0	0	0.248553	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555897	125555897	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:125555897G>A	ENST00000431078.1	+	19	3578	c.3214_splice	c.e19+1	p.G1072_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1072	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1072S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGCAAGAATGGTGAGTGTGA	0.498000													30	97					0	0	0.769981	0	0
TRAV16	28667	broad.mit.edu	37	14	22459119	22459119	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22459119C>T	ENST00000390444.1	+	0	271																											ATCTTTCCACCTGAAGAAACC	0.463000													21	51					0	0	0.639603	0	0
LPPR4	9890	broad.mit.edu	37	1	99767413	99767413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:99767413A>C	ENST00000370185.3	+	6	1423	c.926A>C	c.(925-927)tAt>tCt	p.Y309S	LPPR4_ENST00000370184.1_Missense_Mutation_p.Y151S|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309							phosphatidate phosphatase activity	p.Y309S(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTTGATGTCTATTGTGGCTTT	0.358000													17	167					0	0	0.557998	0	0
RSPO2	340419	broad.mit.edu	37	8	109001368	109001368	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:109001368C>A	ENST00000517939.1	-	0	194				RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000276659.5_Missense_Mutation_p.G67W			Q6UXX9	RSPO2_HUMAN	R-spondin 2						Wnt receptor signaling pathway	extracellular region	heparin binding	p.G67W(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGGCGCATCCCTTCTCTTCGA	0.468000													147	295					8.54292e-67	1.65615e-66	0.870114	1	0
FCRLA	84824	broad.mit.edu	37	1	161680697	161680697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:161680697C>A	ENST00000367959.2	+	3	538	c.296C>A	c.(295-297)tCc>tAc	p.S99Y	FCRLA_ENST00000236938.6_Missense_Mutation_p.S93Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.S53Y|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.S76Y|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.S82Y|FCRLA_ENST00000367949.2_Missense_Mutation_p.S93Y|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Missense_Mutation_p.S76Y|FCRLA_ENST00000546024.1_Missense_Mutation_p.S93Y|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.S82Y	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGATTGTGTCCTATGGTGAG	0.557000													43	117					3.50607e-19	5.04085e-19	0.870114	1	0
CUBN	8029	broad.mit.edu	37	10	16873350	16873350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:16873350G>T	ENST00000377833.4	-	65	10494	c.10429C>A	c.(10429-10431)Cct>Act	p.P3477T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3477	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P3477T(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAAGACAGGGTTTGGCAGC	0.393000													107	289					7.53784e-56	1.40063e-55	0.870114	1	0
HHATL	57467	broad.mit.edu	37	3	42738369	42738369	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:42738369C>A	ENST00000441594.1	-	9	1272	c.1010_splice	c.e9-1	p.T337_splice	HHATL_ENST00000310417.5_Splice_Site_p.T337_splice	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	337					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.T337T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGTCAAAGTGCCTGTAAGAGG	0.612000													7	29					0.0293803	0.0299948	0.248553	1	0
GLRX3	10539	broad.mit.edu	37	10	131958334	131958334	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:131958334G>T	ENST00000368644.1	+	3	298		c.e3+1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	p.?(4)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTTTTCAAGGTAAGGATAAA	0.368000													56	117					1.28914e-47	2.32696e-47	0.870114	1	0
LPA	4018	broad.mit.edu	37	6	160977165	160977165	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:160977165T>A	ENST00000447678.1	-	31	4985	c.4865A>T	c.(4864-4866)cAg>cTg	p.Q1622L	LPA_ENST00000316300.5_Missense_Mutation_p.Q1622L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4130	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Q1622L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGATAACTCTGGCCATTACC	0.483000													202	484					0	0	0.870114	0	0
TAF1L	138474	broad.mit.edu	37	9	32633787	32633787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:32633787C>A	ENST00000242310.4	-	1	1880	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	597					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCGAAGACCCTGTTGCTTGG	0.483000													137	337					1.61599e-48	2.93172e-48	0.870114	1	0
NLRC4	58484	broad.mit.edu	37	2	32477681	32477681	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:32477681G>T	ENST00000404025.2	-	4	557	c.69C>A	c.(67-69)atC>atA	p.I23I	NLRC4_ENST00000360906.5_Silent_p.I23I|NLRC4_ENST00000342905.6_Silent_p.I23I|NLRC4_ENST00000402280.1_Silent_p.I23I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	23	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I23I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTCATCTGTGATTTGCTTTA	0.393000													112	317					6.14176e-70	1.19932e-69	0.870114	1	0
COL4A2	1284	broad.mit.edu	37	13	111132683	111132683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:111132683G>T	ENST00000360467.5	+	31	3010	c.2704G>T	c.(2704-2706)Gga>Tga	p.G902*		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	902	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G902*(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGCCATCCAGGAAGCCCTGG	0.592000													6	18					0.0293803	0.0299948	0.248553	1	0
PLB1	151056	broad.mit.edu	37	2	28855888	28855888	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:28855888C>T	ENST00000422425.2	+	55	4091	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	PLB1_ENST00000327757.5_Silent_p.I1360I|PLB1_ENST00000541605.1_Silent_p.I325I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.I1349I(2)|p.I1360I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGATGGCCATCGCACTCTGGA	0.547000													30	196					0	0	0.779181	0	0
PALB2	79728	broad.mit.edu	37	16	23634330	23634330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:23634330C>A	ENST00000261584.4	-	9	3108	c.2956G>T	c.(2956-2958)Gat>Tat	p.D986Y	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	986	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.D986Y(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTTGTTGATCAGAAAGGGTC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					46	196					1.44317e-28	2.3203e-28	0.870114	1	0
PCYT1B	9468	broad.mit.edu	37	X	24597530	24597530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:24597530T>A	ENST00000379145.1	-	6	601	c.557A>T	c.(556-558)gAc>gTc	p.D186V	PCYT1B_ENST00000379144.2_Missense_Mutation_p.D204V|PCYT1B_ENST00000356768.4_Missense_Mutation_p.D204V|PCYT1B_ENST00000492876.1_5'UTR	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	204	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.D204V(4)|p.D186V(2)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGTAATGATGTCCGATGTTGA	0.428000													241	389					0	0	0.870114	0	0
GRIA4	2893	broad.mit.edu	37	11	105804494	105804494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:105804494C>A	ENST00000393127.2	+	14	2539	c.2093C>A	c.(2092-2094)tCa>tAa	p.S698*	GRIA4_ENST00000282499.5_Nonsense_Mutation_p.S698*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.S698*|GRIA4_ENST00000530497.1_Nonsense_Mutation_p.S698*	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	698					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.S698*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TACATGCGATCAGCAGAGCCA	0.408000													7	46					5.18039e-06	5.86892e-06	0.278610	1	0
NPC1	4864	broad.mit.edu	37	18	21140248	21140248	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:21140248G>A	ENST00000269228.5	-	6	1382	c.828C>T	c.(826-828)taC>taT	p.Y276Y	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.Y9Y	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	276					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.Y276Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACGCCATGTAGGTGATCC	0.507000													12	207					0	0	0.435327	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661623	113661623	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:113661623G>T	ENST00000393544.2	+	0	1671																											TAGGAAGCCAGACTCCACTGC	0.507000													27	49					2.24059e-21	3.34222e-21	0.706142	1	0
CLDN14	23562	broad.mit.edu	37	21	37833580	37833580	+	Missense_Mutation	SNP	C	C	A	rs142846225	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:37833580C>A	ENST00000399137.1	-	3	1280	c.414G>T	c.(412-414)tgG>tgT	p.W138C	AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399135.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399139.1_Missense_Mutation_p.W138C|CLDN14_ENST00000342108.2_Missense_Mutation_p.W138C|AP000695.6_ENST00000429588.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	138					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.W138C(2)		endometrium(1)|lung(5)|skin(1)	7						CGTTGGTGGTCCAGGAGACGG	0.637000													10	37					1.61879e-10	1.9915e-10	0.411799	1	0
RABL3	285282	broad.mit.edu	37	3	120417341	120417341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:120417341T>A	ENST00000273375.3	-	5	492	c.463A>T	c.(463-465)Aca>Tca	p.T155S	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.T155S	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	155	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.T155S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGGCGCTTTGTTTCATGAATC	0.358000													158	511					0	0	0.870114	0	0
BCAS1	8537	broad.mit.edu	37	20	52612502	52612502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:52612502C>A	ENST00000395961.3	-	5	977	c.811G>T	c.(811-813)Gca>Tca	p.A271S	BCAS1_ENST00000371440.3_Missense_Mutation_p.A271S|BCAS1_ENST00000434986.2_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.A271S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	271						cytoplasm	protein binding	p.A271S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCGTCCTTTGCAGTCTCCAGT	0.473000													73	207					1.62783e-20	2.39163e-20	0.870114	1	0
ABCC9	10060	broad.mit.edu	37	12	22089557	22089557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:22089557C>G	ENST00000261200.4	-	1	51	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	ABCC9_ENST00000345162.2_Missense_Mutation_p.G18R|ABCC9_ENST00000538350.1_Missense_Mutation_p.G18R|ABCC9_ENST00000326684.4_Missense_Mutation_p.G18R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G18R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	18					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G18R(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTAGTACACCATCGTTGATA	0.338000													23	120					0	0	0.654019	0	0
MSC	9242	broad.mit.edu	37	8	72754932	72754932	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:72754932A>T	ENST00000325509.4	-	2	874	c.585T>A	c.(583-585)gtT>gtA	p.V195V	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	195					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V195V(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGGCTGCGGAAACTTCTTTGG	0.468000													256	518					0	0	0.870114	0	0
SCG2	7857	broad.mit.edu	37	2	224463262	224463262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:224463262C>A	ENST00000305409.2	-	2	971	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	247					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.G247*(2)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGTCTTCTCCCCCGACCACA	0.413000													168	543					3.92034e-43	6.92508e-43	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237729943	237729943	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:237729943G>A	ENST00000366574.2	+	28	3608	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	RYR2_ENST00000360064.6_Silent_p.K1095K|RYR2_ENST00000542537.1_Silent_p.K1081K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1097	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K1095K(2)|p.K1095N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGTGAAGGCCGGACGGT	0.557000													81	282					0	0	0.870114	0	0
NFAT5	10725	broad.mit.edu	37	16	69660388	69660388	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:69660388C>T	ENST00000432919.1	+	3	1418	c.210C>T	c.(208-210)agC>agT	p.S70S	NFAT5_ENST00000354436.2_Silent_p.S52S|NFAT5_ENST00000349945.1_5'UTR|NFAT5_ENST00000567239.1_Silent_p.S70S|NFAT5_ENST00000393742.2_5'UTR|NFAT5_ENST00000566899.1_5'UTR	NM_001113178.2|NM_138713.3	NP_001106649.1|NP_619727.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	52	Ser-rich.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S70S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCAGACAAGCGGTGGTGAGG	0.448000													4	67					0	0	0.248553	0	0
TENM2	57451	broad.mit.edu	37	5	167525048	167525048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:167525048C>A	ENST00000519204.1	+	8	1484	c.1366C>A	c.(1366-1368)Cca>Aca	p.P456T	TENM2_ENST00000518659.1_Missense_Mutation_p.P577T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.P345T|TENM2_ENST00000403607.2_Missense_Mutation_p.P410T|TENM2_ENST00000545108.1_Missense_Mutation_p.P577T					teneurin transmembrane protein 2									p.P577T(2)|p.P410T(2)|p.P456T(2)									GCAGGACTGTCCACGTAACTG	0.453000													28	62					1.26612e-14	1.68502e-14	0.779181	1	0
OR8J1	219477	broad.mit.edu	37	11	56128272	56128272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:56128272C>A	ENST00000303039.3	+	1	582	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TAATGTTCCTCTGTTAGCATT	0.333000													53	158					2.93687e-30	4.79362e-30	0.870114	1	0
LILRB1	10859	broad.mit.edu	37	19	55146212	55146212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:55146212C>A	ENST00000396331.1	+	11	1838	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S478*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S495*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S478*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S495*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S544*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S494*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	494					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S494*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACTGGACATCGAGTGAGTAG	0.577000										HNSCC(37;0.09)			74	178					5.82064e-54	1.07782e-53	0.870114	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784676	140784676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140784676G>T	ENST00000573521.1	+	1	2157	c.2157G>T	c.(2155-2157)tgG>tgT	p.W719C	PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGCACTGGCACTCCTCGC	0.587000													19	38					1.33834e-09	1.61503e-09	0.557998	1	0
OR4D6	219983	broad.mit.edu	37	11	59224639	59224639	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:59224639T>C	ENST00000300127.2	+	1	229	c.206T>C	c.(205-207)cTg>cCg	p.L69P		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69P(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AAATCAGTCCTGGACATCGTT	0.463000													38	163					0	0	0.819951	0	0
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000412726.1_Missense_Mutation_p.R294H|DCC_ENST00000581580.1_Missense_Mutation_p.R101H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517000													13	521					0	0	0.457914	0	0
SCN9A	6335	broad.mit.edu	37	2	167133545	167133545	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:167133545T>A	ENST00000375387.4	-	16	3165	c.2825A>T	c.(2824-2826)cAa>cTa	p.Q942L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.Q941L|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q930L|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q942L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	941						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q930L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCACATAGCTTGACCAGCGAC	0.448000													118	830					0	0	0.870114	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750472	41750472	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:41750472C>A	ENST00000226382.2	-	1	515	c.156G>T	c.(154-156)ggG>ggT	p.G52G	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	52					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G52G(2)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CGGACGTGGCCCCAAAAGTGG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	46					0.00307968	0.00324909	0.278610	1	0
ZNF560	147741	broad.mit.edu	37	19	9578614	9578614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:9578614C>A	ENST00000301480.4	-	10	1222	c.1009G>T	c.(1009-1011)Gta>Tta	p.V337L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V337L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCAACATTTACAGCATGGCTT	0.388000													5	152					0.184627	0.186188	0.184627	1	0
C9orf131	138724	broad.mit.edu	37	9	35045842	35045842	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:35045842C>A	ENST00000312292.5	+	2	3263	c.3216C>A	c.(3214-3216)ccC>ccA	p.P1072P	C9orf131_ENST00000354479.5_Silent_p.P999P|C9orf131_ENST00000421362.2_Silent_p.P1024P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1072								p.P1072P(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCATCGACCCCTACCCACCA	0.517000													116	393					5.22802e-61	9.97316e-61	0.870114	1	0
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:35836516C>A	ENST00000085219.5	+	12	2286	c.2220C>A	c.(2218-2220)gcC>gcA	p.A740A	CD22_ENST00000536635.2_Silent_p.A652A|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Silent_p.A568A|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000544992.2_Intron|CD22_ENST00000594250.1_Silent_p.A563A|CD22_ENST00000341773.6_Silent_p.A563A	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	740					cell adhesion		protein binding|sugar binding	p.A740A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTAGAAGGGCCCCCCTCTCTG	0.582000													22	21					9.90768e-06	1.11423e-05	0.681144	1	0
USHBP1	83878	broad.mit.edu	37	19	17373540	17373540	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:17373540C>T	ENST00000252597.3	-	4	636	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	USHBP1_ENST00000431146.2_Missense_Mutation_p.G91R|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	155							PDZ domain binding	p.G155R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTGCTCCCCCTTCGCTTGTG	0.687000													25	10					0	0	0.740014	0	0
ACTG1	71	broad.mit.edu	37	17	79479156	79479156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:79479156C>A	ENST00000575842.1	-	2	562	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	ACTG1_ENST00000575087.1_Missense_Mutation_p.G46C|ACTG1_ENST00000573283.1_Missense_Mutation_p.G46C|ACTG1_ENST00000331925.2_Missense_Mutation_p.G46C			P63261	ACTG_HUMAN	actin, gamma 1	46					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G46C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGGCCCATGCCCACCATGACG	0.667000													5	14					0.0215528	0.0221509	0.217242	1	0
SYNPO2	171024	broad.mit.edu	37	4	119948371	119948371	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:119948371C>T	ENST00000307142.4	+	3	1043	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	SYNPO2_ENST00000429713.2_Missense_Mutation_p.R283W|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R283W	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	283						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R283W(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGACTGCCCCGGGTGGAAGT	0.557000													39	93					0	0	0.080422	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513291	70513291	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:70513291C>A	ENST00000503640.1	-	1	127	c.72G>T	c.(70-72)ttG>ttT	p.L24F	UGT2A1_ENST00000286604.4_Missense_Mutation_p.L24F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.L24F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L24F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	24					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.L24F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGCCAAATCAAAACATTCC	0.398000													15	89					5.35267e-07	5.9866e-07	0.189662	1	0
FCRL4	83417	broad.mit.edu	37	1	157556176	157556176	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:157556176A>T	ENST00000271532.1	-	6	1052	c.917T>A	c.(916-918)cTg>cAg	p.L306Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	306	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.L306Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GACAAGGACCAGCATCTCCCC	0.602000													63	163					0	0	0.139131	0	0
NLRP2	55655	broad.mit.edu	37	19	55497607	55497607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:55497607G>T	ENST00000543010.1	+	8	2433	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	NLRP2_ENST00000448584.2_Missense_Mutation_p.G764C|NLRP2_ENST00000427260.2_Missense_Mutation_p.G741C|NLRP2_ENST00000391721.4_Missense_Mutation_p.G740C|NLRP2_ENST00000339757.7_Missense_Mutation_p.G742C|NLRP2_ENST00000538819.1_Missense_Mutation_p.G740C|NLRP2_ENST00000537859.1_Missense_Mutation_p.G742C|NLRP2_ENST00000263437.6_Missense_Mutation_p.G761C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	764					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.G764C(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCCTTCAAGGCAATGACCA	0.443000													40	82					1.62957e-23	2.56482e-23	0.104719	1	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328321	21328321	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:21328321C>T	ENST00000444326.1	+	0	437																		p.P67S(1)									CGATGAAGTGCCTTTCTACAT	0.423000													12	472					0	0	0.105934	0	0
CSMD3	114788	broad.mit.edu	37	8	113348989	113348989	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113348989G>T	ENST00000297405.5	-	44	7155	c.6911C>A	c.(6910-6912)cCa>cAa	p.P2304Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2264Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2234Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2200Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2304	CUB 13.					integral to membrane|plasma membrane		p.P2304Q(1)|p.P2264Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGTTTGGATATTCATC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	275					3.09899e-07	3.48599e-07	0.047766	1	0
ZMYM4	9202	broad.mit.edu	37	1	35847281	35847281	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:35847281G>T	ENST00000314607.6	+	9	1571	c.1491G>T	c.(1489-1491)tcG>tcT	p.S497S	ZMYM4_ENST00000373297.2_Silent_p.S497S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	497					multicellular organismal development		DNA binding|zinc ion binding	p.S497S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTGGGTCGGGACAATGCC	0.433000													23	204					7.87624e-14	1.04098e-13	0.076483	1	0
C15orf52	388115	broad.mit.edu	37	15	40628796	40628796	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:40628796C>T	ENST00000397536.2	-	5	403	c.368G>A	c.(367-369)aGg>aAg	p.R123K	C15orf52_ENST00000559313.1_Missense_Mutation_p.R333K			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	333								p.R333K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCAGTCAGCCTCTCCTTGCC	0.632000													13	134					0	0	0.189662	0	0
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:153691700C>A	ENST00000304337.2	-	2	1277	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.G153C(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACTGGTACACCTGTAGCTTCT	0.363000													35	118					3.90053e-15	5.3049e-15	0.163468	1	0
CYB561A3	220002	broad.mit.edu	37	11	61121427	61121427	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:61121427C>G	ENST00000426130.2	-	5	1052	c.273G>C	c.(271-273)ggG>ggC	p.G91G	CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000294072.4_Silent_p.G74G|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000447532.2_Silent_p.G74G|CYB561A3_ENST00000536915.1_Silent_p.G74G|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000544118.1_Intron	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3									p.G91G(2)|p.G74G(2)									GCAGTTTGGGCCCCACCCACG	0.607000													35	94					0	0	0.193644	0	0
EDIL3	10085	broad.mit.edu	37	5	83239283	83239283	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:83239283C>G	ENST00000296591.5	-	11	1816	c.1398G>C	c.(1396-1398)agG>agC	p.R466S	EDIL3_ENST00000380138.3_Missense_Mutation_p.R456S	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	466	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.R466S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTGATCCTCCCGTACC	0.488000													42	128					0	0	0.124865	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22868122	22868122	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:22868122C>T	ENST00000251822.6	+	7	2229	c.1692C>T	c.(1690-1692)acC>acT	p.T564T	RHOBTB2_ENST00000519685.1_Silent_p.T586T|RHOBTB2_ENST00000522948.1_Silent_p.T571T|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	564	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.T564T(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCATGTTCACCTCCAGCCCCG	0.587000													45	204					0	0	0.131918	0	0
ADCY6	112	broad.mit.edu	37	12	49170251	49170251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:49170251C>A	ENST00000307885.4	-	6	2189	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	ADCY6_ENST00000550422.1_Missense_Mutation_p.V499L|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.V499L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	499					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.V499L(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCAGGGTCACATCATTGGAC	0.647000													43	55					1.56793e-16	2.19622e-16	0.139131	1	0
WNK4	65266	broad.mit.edu	37	17	40940775	40940775	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:40940775A>C	ENST00000246914.5	+	11	2138	c.2117A>C	c.(2116-2118)gAt>gCt	p.D706A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	706					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.D706A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGATTTGATCTGGATGGG	0.517000													8	136					0	0	0.038147	0	0
CFH	3075	broad.mit.edu	37	1	196654266	196654266	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:196654266A>C	ENST00000367429.4	+	7	1103	c.863A>C	c.(862-864)gAt>gCt	p.D288A	CFH_ENST00000359637.2_Missense_Mutation_p.D224A|CFH_ENST00000439155.2_Missense_Mutation_p.D288A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	288	Sushi 5.				complement activation, alternative pathway	extracellular space		p.D288A(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAACTGGAGATGAAATCACG	0.383000													8	362					0	0	0.047766	0	0
OR13C4	138804	broad.mit.edu	37	9	107288712	107288712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:107288712G>T	ENST00000277216.3	-	1	778	c.779C>A	c.(778-780)gCa>gAa	p.A260E		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A260E(3)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTAGGTTTTGCATACATAAA	0.468000													14	161					4.36969e-10	5.26431e-10	0.105934	1	0
FAT3	120114	broad.mit.edu	37	11	92531039	92531039	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:92531039A>T	ENST00000298047.6	+	9	4877	c.4860A>T	c.(4858-4860)ctA>ctT	p.L1620L	FAT3_ENST00000525166.1_Silent_p.L1470L|FAT3_ENST00000409404.2_Silent_p.L1620L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1620	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L1620L(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCGGTCCTAGGCATCATCA	0.428000										TCGA Ovarian(4;0.039)			73	130					0	0	0.139131	0	0
BICD1	636	broad.mit.edu	37	12	32260458	32260458	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:32260458G>C	ENST00000548411.1	+	1	374	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	BICD1_ENST00000551848.1_Missense_Mutation_p.E65Q|BICD1_ENST00000550207.1_Missense_Mutation_p.E65Q|BICD1_ENST00000281474.5_Missense_Mutation_p.E65Q|RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000551086.1_Missense_Mutation_p.E65Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	65					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.E65Q(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CCTCAAACAGGAGCTGGAGCA	0.577000													5	9					0	0	0.047766	0	0
ZBED4	9889	broad.mit.edu	37	22	50277734	50277734	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:50277734G>A	ENST00000216268.4	+	2	901	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	142						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.E142K(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGAAGGAGTTCAGCAG	0.507000													35	71					0	0	0.163468	0	0
C2orf78	388960	broad.mit.edu	37	2	74043181	74043181	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:74043181C>A	ENST00000409561.1	+	3	1952	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	611	Lys-rich.							p.Q581K(2)|p.Q611K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAGAAAAATCAACCTGAGCT	0.438000													32	70					4.4194e-11	5.45899e-11	0.173368	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	137					0	0	0.038147	0	0
ASXL3	80816	broad.mit.edu	37	18	31323228	31323228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:31323228C>A	ENST00000269197.5	+	12	3416	c.3416C>A	c.(3415-3417)cCt>cAt	p.P1139H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P846H(1)|p.P1139H(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGGAAGGGCCTCCAAACTTA	0.473000													10	49					0.0581538	0.0587559	0.058154	1	0
CD163	9332	broad.mit.edu	37	12	7636092	7636092	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:7636092C>A	ENST00000359156.4	-	12	3161	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	CD163_ENST00000396620.3_Missense_Mutation_p.G1020W|CD163_ENST00000541972.1_Missense_Mutation_p.G975W|CD163_ENST00000432237.2_Missense_Mutation_p.G987W|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGTCCAGTCCCCTGACCAAAC	0.517000													28	116					4.22769e-11	5.23322e-11	0.116897	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714185	70714185	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:70714185G>T	ENST00000530196.1	-	0	333					NR_003951.1																						CCAAACCGCAGACTATAGGAG	0.522000													8	110					0.000566183	0.000593555	0.160694	1	0
DNAH9	1770	broad.mit.edu	37	17	11726350	11726350	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:11726350A>T	ENST00000262442.3	+	48	9313	c.9246_splice	c.e48+1	p.Q3082_splice	DNAH9_ENST00000454412.2_Splice_Site_p.Q3082_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3082	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q3082L(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCTCTGCCCAGGTGAGCAAT	0.542000													9	15					0	0	0.047766	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:17071902C>G	ENST00000359963.3	-	1	1798	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	513					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.Q513H(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTCACGAGCTGTAGCACCA	0.498000													104	163					0	0	0.139131	0	0
FCRLA	84824	broad.mit.edu	37	1	161680653	161680653	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:161680653G>A	ENST00000367959.2	+	3	494	c.252G>A	c.(250-252)caG>caA	p.Q84Q	FCRLA_ENST00000236938.6_Silent_p.Q78Q|FCRLA_ENST00000349527.4_Silent_p.Q61Q|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Silent_p.Q67Q|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000309691.6_Silent_p.Q61Q|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Silent_p.Q78Q|FCRLA_ENST00000367950.1_Silent_p.Q38Q|FCRLA_ENST00000540926.1_Silent_p.Q67Q|FCRLA_ENST00000367949.2_Silent_p.Q78Q	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	61	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.Q84Q(2)|p.Q61Q(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTTCCAGGTCAAGGCCT	0.562000													47	142					0	0	0.139131	0	0
TRANK1	9881	broad.mit.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:36872739C>T	ENST00000429976.2	-	21	8450	c.8203G>A	c.(8203-8205)Ggc>Agc	p.G2735S	TRANK1_ENST00000428977.2_Missense_Mutation_p.G2185S|TRANK1_ENST00000301807.6_Missense_Mutation_p.G2185S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2735					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.G2185S(2)|p.G2178S(2)|p.G2735S(2)|p.G2735C(1)|p.G2185C(1)|p.G2178C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTCTGGGCCACGGGTAAAC	0.592000													24	55					0	0	0.083992	0	0
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1369										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473000													4	5					0	0	0.150653	0	0
KIAA1377	57562	broad.mit.edu	37	11	101786030	101786030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:101786030G>T	ENST00000263468.8	+	1	285	c.15G>T	c.(13-15)agG>agT	p.R5S	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	5							protein binding	p.R5S(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGGCGGGGAGGCCCGGAACCC	0.701000													52	70					6.3237e-29	1.07164e-28	0.139131	1	0
CDH6	1004	broad.mit.edu	37	5	31297485	31297485	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:31297485C>G	ENST00000265071.2	+	4	878	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q150E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	205	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q205E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTACAGGGACAGCCCTATTT	0.373000													14	235					0	0	0.105934	0	0
ATP1B4	23439	broad.mit.edu	37	X	119512560	119512560	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:119512560A>G	ENST00000218008.3	+	7	901	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.I239V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.I278V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	282					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.I278V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CATCCGATCCATCAGTTACTA	0.478000													110	147					0	0	0.139131	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432382	107432382	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:107432382A>G	ENST00000340010.5	-	4	459	c.275T>C	c.(274-276)tTa>tCa	p.L92S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L57S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAAATGCTAAACCTGTAAA	0.423000													8	126					0	0	0.047766	0	0
RLTPR	146206	broad.mit.edu	37	16	67680809	67680809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:67680809G>T	ENST00000334583.6	+	8	872	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	RLTPR_ENST00000545661.1_Missense_Mutation_p.D182Y	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	182										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCAGGACGTGGACACCATTTA	0.627000													4	37					0.150653	0.151559	0.150653	1	0
CSMD1	64478	broad.mit.edu	37	8	2966218	2966218	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:2966218C>A	ENST00000602557.1	-	45	7219	c.6664G>T	c.(6664-6666)Gcc>Tcc	p.A2222S	CSMD1_ENST00000400186.3_Missense_Mutation_p.A2222S|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2221S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2221S|CSMD1_ENST00000602723.1_Missense_Mutation_p.A2222S|CSMD1_ENST00000520002.1_Missense_Mutation_p.A2222S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2222	CUB 13.					integral to membrane		p.A2221S(1)|p.A1950S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTTCGAGGGCTGTGTTGCCA	0.507000													8	38					0.00448238	0.00461642	0.047766	1	0
TBX5	6910	broad.mit.edu	37	12	114804114	114804114	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:114804114C>T	ENST00000310346.4	-	8	1504	c.838G>A	c.(838-840)Gct>Act	p.A280T	TBX5_ENST00000405440.2_Missense_Mutation_p.A280T|TBX5_ENST00000349716.5_Missense_Mutation_p.A230T|TBX5_ENST00000526441.1_Missense_Mutation_p.A280T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	280					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A280T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGGAGAGAGCTCGAGACTCG	0.552000													15	207					0	0	0.146539	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686206	36686206	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:36686206C>A	ENST00000265113.4	+	10	1940	c.1464C>A	c.(1462-1464)tcC>tcA	p.S488S	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.S443S	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	488					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.S488S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGAGACTCCCTGGGAGCTG	0.517000													18	249					8.00594e-06	8.75346e-06	0.189662	1	0
MMP10	4319	broad.mit.edu	37	11	102643716	102643716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:102643716C>A	ENST00000279441.4	-	8	1124	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	363	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R363I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCATTTCCTCTGATGGCCCA	0.368000													16	255					1.3612e-06	1.50944e-06	0.132662	1	0
NLGN1	22871	broad.mit.edu	37	3	173996827	173996827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:173996827G>T	ENST00000457714.1	+	6	1465	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	NLGN1_ENST00000401917.3_Missense_Mutation_p.D386Y|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.D346Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.D346Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	363					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGTTGACCAAGATATTCAACC	0.428000													6	274					0.00116845	0.00121514	0.021553	1	0
OR6K3	391114	broad.mit.edu	37	1	158687393	158687393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:158687393G>T	ENST00000368146.1	-	1	560	c.561C>A	c.(559-561)ccC>ccA	p.P187P	OR6K3_ENST00000368145.1_Silent_p.P171P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P187P(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGATTTGGTTGGGCCCACAGA	0.512000													68	175					1.33661e-31	2.33259e-31	0.139131	1	0
FBLIM1	54751	broad.mit.edu	37	1	16096939	16096939	+	Nonsense_Mutation	SNP	C	C	T	rs140794901		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:16096939C>T	ENST00000375766.3	+	6	1217	c.577C>T	c.(577-579)Cga>Tga	p.R193*	FBLIM1_ENST00000375771.1_Nonsense_Mutation_p.R193*|FBLIM1_ENST00000441801.2_Nonsense_Mutation_p.R193*|FBLIM1_ENST00000332305.5_Nonsense_Mutation_p.R96*|FBLIM1_ENST00000400773.1_Nonsense_Mutation_p.R96*	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	193	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.R193*(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CGTGTCCCCCCGAGAGCTGGC	0.642000													11	133					0	0	0.093190	0	0
CIT	11113	broad.mit.edu	37	12	120263085	120263085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:120263085C>A	ENST00000392521.2	-	8	896	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	CIT_ENST00000261833.7_Missense_Mutation_p.G281C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	281	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.G281C(4)|p.G282C(2)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGTCCAGGCCGTAGGTGCCT	0.527000													80	125					3.30373e-36	5.97017e-36	0.139131	1	0
NEB	4703	broad.mit.edu	37	2	152512820	152512820	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:152512820G>A	ENST00000397345.3	-	49	6544	c.6342C>T	c.(6340-6342)caC>caT	p.H2114H	NEB_ENST00000604864.1_Silent_p.H2114H|NEB_ENST00000172853.10_Silent_p.H2114H|NEB_ENST00000427231.2_Silent_p.H2114H|NEB_ENST00000409198.1_Silent_p.H2114H|NEB_ENST00000603639.1_Silent_p.H2114H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2114					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.H2114H(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGGCAGGGGTGTGGTAGCTGG	0.478000													61	172					0	0	0.139131	0	0
HDAC2	3066	broad.mit.edu	37	6	114270215	114270215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:114270215C>T	ENST00000519065.1	-	8	1145	c.769G>A	c.(769-771)Gct>Act	p.A257T	HDAC2_ENST00000398283.2_Missense_Mutation_p.A351T|HDAC2_ENST00000519108.1_Missense_Mutation_p.A227T|HDAC2_ENST00000368632.2_Missense_Mutation_p.A227T			Q92769	HDAC2_HUMAN	histone deacetylase 2	257	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.A257T(2)|p.A351T(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	AATACCACAGCACTAGGTTGA	0.378000													43	122					0	0	0.139131	0	0
TNFRSF8	943	broad.mit.edu	37	1	12157231	12157231	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:12157231G>T	ENST00000263932.2	+	3	447	c.225G>T	c.(223-225)ctG>ctT	p.L75L	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	75					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.L75L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACTACCTGGATGAGGCCG	0.577000													26	109					7.92952e-12	1.00275e-11	0.091800	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125850370	125850370	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:125850370C>A	ENST00000393434.2	-	13	1829	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D393Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D504Y|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D494Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	494	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.D494Y(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCATGAGATCTGCCAACCTG	0.647000													38	75					1.96642e-18	2.86402e-18	0.092188	1	0
EPYC	1833	broad.mit.edu	37	12	91358003	91358003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:91358003G>T	ENST00000261172.3	-	7	991	c.899C>A	c.(898-900)cCt>cAt	p.P300H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	300					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.P300H(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GAGATTAATAGGGTTTCCATC	0.393000													71	92					1.55545e-33	2.78081e-33	0.139131	1	0
STARD7	56910	broad.mit.edu	37	2	96858109	96858109	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:96858109C>G	ENST00000337288.5	-	6	1224	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	281	START.					mitochondrion		p.E281Q(2)|p.E206Q(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AAACTCACCTCATCAAATGAC	0.493000													64	166					0	0	0.139131	0	0
BDP1	55814	broad.mit.edu	37	5	70797393	70797393	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:70797393A>T	ENST00000380675.2	+	0	2224				BDP1_ENST00000358731.4_Missense_Mutation_p.H654L			A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.H654L(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCACAGAACCACGTGGAAAAA	0.343000													24	110					0	0	0.099896	0	0
OR2G3	81469	broad.mit.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247769640C>A	ENST00000320002.2	+	1	785	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F251L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGATTATATTCTATGGCACCA	0.488000													25	97					1.85244e-09	2.20897e-09	0.083992	1	0
PDE6C	5146	broad.mit.edu	37	10	95425130	95425130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:95425130A>T	ENST00000371447.3	+	22	2670	c.2532A>T	c.(2530-2532)tcA>tcT	p.S844S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	844					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.S844S(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTGAAGATTCAGGAGGTGGTG	0.318000													37	146					0	0	0.131918	0	0
TGFBR3	7049	broad.mit.edu	37	1	92174229	92174229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:92174229C>A	ENST00000212355.4	-	14	2743	c.2278G>T	c.(2278-2280)Gaa>Taa	p.E760*	TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E760*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E759*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	760					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E760*(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCTTTAGATTCTGCTTCATGG	0.493000													68	177					1.49552e-23	2.35701e-23	0.139131	1	0
NDRG2	57447	broad.mit.edu	37	14	21486634	21486634	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:21486634G>T	ENST00000556147.1	-	13	1783	c.843C>A	c.(841-843)acC>acA	p.T281T	NDRG2_ENST00000360463.3_Silent_p.T267T|NDRG2_ENST00000350792.3_Silent_p.T267T|NDRG2_ENST00000397851.2_Silent_p.T281T|NDRG2_ENST00000397847.2_Silent_p.T270T|NDRG2_ENST00000397853.3_Silent_p.T281T|NDRG2_ENST00000397855.3_Silent_p.T238T|NDRG2_ENST00000553503.1_Silent_p.T267T|NDRG2_ENST00000555158.1_Silent_p.T267T|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397858.1_Silent_p.T281T|NDRG2_ENST00000298684.5_Silent_p.T238T|NDRG2_ENST00000554143.1_Silent_p.T267T|NDRG2_ENST00000403829.3_Silent_p.T277T|NDRG2_ENST00000554104.1_Silent_p.T194T|NDRG2_ENST00000298687.5_Silent_p.T281T			Q9UN36	NDRG2_HUMAN	NDRG family member 2	281					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		p.T281T(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACGAGGTCTGGGTGGGGTCCA	0.582000													12	42					3.27435e-08	3.77388e-08	0.119110	1	0
CROT	54677	broad.mit.edu	37	7	87011391	87011391	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:87011391G>T	ENST00000331536.3	+	12	1249	c.1062_splice	c.e12-1	p.G355_splice	CROT_ENST00000419147.2_Splice_Site_p.G383_splice|CROT_ENST00000442291.1_Splice_Site_p.G355_splice	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	355					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.G355V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TATTTTCAGGGTTCAGAGAAG	0.333000													37	56					6.29468e-14	8.33832e-14	0.214465	1	0
ELF2	1998	broad.mit.edu	37	4	139980627	139980627	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:139980627G>C	ENST00000394235.2	-	10	1758	c.1256C>G	c.(1255-1257)cCa>cGa	p.P419R	ELF2_ENST00000379550.1_Missense_Mutation_p.P431R|ELF2_ENST00000265495.4_Missense_Mutation_p.P419R|ELF2_ENST00000510408.1_Missense_Mutation_p.P359R|ELF2_ENST00000358635.3_Missense_Mutation_p.P371R|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379549.2_Missense_Mutation_p.P342R	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	431					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P419R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GACTACCTTTGGAGAGGTCGC	0.438000													8	185					0	0	0.038147	0	0
PROM2	150696	broad.mit.edu	37	2	95945675	95945675	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:95945675G>T	ENST00000317620.9	+	11	1490	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	PROM2_ENST00000403131.2_Missense_Mutation_p.G453C|PROM2_ENST00000317668.4_Missense_Mutation_p.G453C|PROM2_ENST00000542147.1_Missense_Mutation_p.G453C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	453						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G453C(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGCATCTGGGGCCTGTCTGC	0.642000													24	110					1.1804e-14	1.58696e-14	0.091800	1	0
KDM3A	55818	broad.mit.edu	37	2	86678331	86678331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:86678331A>G	ENST00000409556.1	+	5	813	c.448A>G	c.(448-450)Ata>Gta	p.I150V	KDM3A_ENST00000542128.1_Missense_Mutation_p.I98V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I150V|KDM3A_ENST00000312912.5_Missense_Mutation_p.I150V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	150					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.I150V(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTTGAAGCCTATACAGGTAAA	0.363000													12	70					0	0	0.080935	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219926	54219926	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:54219926C>A	ENST00000384818.1	+	0	79					NR_030203.1																						AGAGTGTTACCGTGTGAGAAA	0.428000													63	101					4.45325e-31	7.74853e-31	0.139131	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044273	90044273	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:90044273C>A	ENST00000462693.1	+	0	224																											CAGCAGAGGCCAGGCCAGCCT	0.537000													28	262					1.06801e-11	1.34622e-11	0.144211	1	0
TGM7	116179	broad.mit.edu	37	15	43585794	43585794	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:43585794T>A	ENST00000452443.2	-	2	50	c.46A>T	c.(46-48)Agc>Tgc	p.S16C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	16					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S16C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCTGGAGCTCTGCAGGTCG	0.652000													25	86					0	0	0.091800	0	0
HP1BP3	50809	broad.mit.edu	37	1	21074085	21074085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:21074085C>A	ENST00000375003.2	-	7	2249	c.749G>T	c.(748-750)gGg>gTg	p.G250V	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402V			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GAACCCTTTCCCAGAGATCTG	0.373000													11	120					0.00185496	0.00192226	0.105934	1	0
NFIL3	4783	broad.mit.edu	37	9	94172835	94172835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:94172835C>A	ENST00000297689.3	-	2	576	c.182G>T	c.(181-183)cGg>cTg	p.R61L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	61					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R61L(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CCGTTTCCTCCGACATGCAGA	0.433000													127	365					4.27115e-56	8.26696e-56	0.139131	1	0
TAS1R1	80835	broad.mit.edu	37	1	6639557	6639557	+	Nonsense_Mutation	SNP	C	C	A	rs145637880	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:6639557C>A	ENST00000333172.6	+	6	2632	c.2439C>A	c.(2437-2439)taC>taA	p.Y813*	TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Y559*|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	813					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.Y813*(2)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTAAGTGCTACGTGATCCTCT	0.617000													28	126					4.7796e-09	5.61376e-09	0.099896	1	0
MYH1	4619	broad.mit.edu	37	17	10399714	10399714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:10399714G>T	ENST00000226207.5	-	34	4903	c.4809C>A	c.(4807-4809)agC>agA	p.S1603R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1603						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1603R(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCCAGTGTGCTCTGCATGG	0.448000													126	258					7.75303e-77	1.52842e-76	0.139131	1	0
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:98802742C>T	ENST00000266058.4	-	20	2325	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	SLIT1_ENST00000371070.4_Missense_Mutation_p.G694R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	694	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.G694R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612000													16	60					0	0	0.160694	0	0
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:4770300C>A	ENST00000379400.3	-	8	776	c.581G>T	c.(580-582)cGc>cTc	p.R194L	RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTGTTGATGCGGACGTTGGT	0.547000													18	63					3.51602e-12	4.47528e-12	0.204396	1	0
MIR381HG	378881	broad.mit.edu	37	14	101515025	101515025	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:101515025G>T	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							ttgttaaaaagcagattctga	0.413000													25	61					2.21704e-12	2.82497e-12	0.076483	1	0
RASSF1	11186	broad.mit.edu	37	3	50368057	50368057	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:50368057G>A	ENST00000359365.4	-	6	1084	c.978C>T	c.(976-978)tgC>tgT	p.C326C	RASSF1_ENST00000357043.2_Silent_p.C330C|RASSF1_ENST00000327761.3_Silent_p.C256C|RASSF1_ENST00000395126.3_Silent_p.C175C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	330	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	p.C256C(2)|p.C330C(2)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTTCTGGCGGCAATAGGAGT	0.612000													50	144					0	0	0.139131	0	0
PRDM5	11107	broad.mit.edu	37	4	121631535	121631535	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:121631535C>T	ENST00000264808.3	-	15	1897	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T	PRDM5_ENST00000428209.2_Missense_Mutation_p.A522T|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_Missense_Mutation_p.G493D	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	553					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.A553T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGAAGGCCTTGCTGCAC	0.483000													37	104					0	0	0.086207	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574545	11574545	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:11574545G>A	ENST00000294484.6	+	4	1553	c.1415G>A	c.(1414-1416)tGc>tAc	p.C472Y	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C472Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	472	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.C689Y(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCAGCAGCTGCATTGCTGCC	0.582000													19	204					0	0	0.055883	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897071	29897071	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:29897071C>T	ENST00000308713.5	-	8	1736		c.e8-1		SEZ6L2_ENST00000350527.3_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2							endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.?(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCATCAGCCTGGGATGGAC	0.557000													19	78					0	0	0.175082	0	0
RYR1	6261	broad.mit.edu	37	19	38986924	38986924	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:38986924G>A	ENST00000355481.4	+	40	6749	c.6618G>A	c.(6616-6618)acG>acA	p.T2206T	RYR1_ENST00000359596.3_Silent_p.T2206T|RYR1_ENST00000360985.3_Silent_p.T2206T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2206	6 X approximate repeats.		T -> M (in MHS1; induces an increase sensitivity to caffeine; dbSNP:rs28934000).|T -> R (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCACGAGACGGTCATGGAGG	0.632000													4	127					0	0	0.021553	0	0
STARD13	90627	broad.mit.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000255486.4_Missense_Mutation_p.R272L|STARD13_ENST00000399365.3_Missense_Mutation_p.R162L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542000													15	156					2.61681e-11	3.26683e-11	0.119110	1	0
MYO1D	4642	broad.mit.edu	37	17	31105502	31105502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:31105502C>A	ENST00000318217.5	-	3	698	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	MYO1D_ENST00000583621.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.E132*|MYO1D_ENST00000394649.4_Nonsense_Mutation_p.E44*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	132	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.E132*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TCTTACCTTTCAACCTCTGCT	0.478000													35	119					5.04308e-16	6.98869e-16	0.086207	1	0
BEND2	139105	broad.mit.edu	37	X	18209221	18209221	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:18209221G>T	ENST00000380033.4	-	8	1320	c.1188C>A	c.(1186-1188)ggC>ggA	p.G396G	BEND2_ENST00000380030.3_Silent_p.G305G	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	396								p.G396G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCATTTGTGGGCCAGATTCTG	0.378000													60	86					1.13205e-32	2.00548e-32	0.139131	1	0
COL5A1	1289	broad.mit.edu	37	9	137658860	137658860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:137658860G>T	ENST00000371817.3	+	23	2562	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	716	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.E716D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGGGAGAGCCTGGCCCCC	0.652000													12	28					1.15088e-07	1.30716e-07	0.146539	1	0
MEPE	56955	broad.mit.edu	37	4	88767161	88767161	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:88767161G>C	ENST00000497649.2	+	6	1447	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.E381Q|MEPE_ENST00000361056.3_Missense_Mutation_p.E381Q|MEPE_ENST00000395102.4_Missense_Mutation_p.E412Q|MEPE_ENST00000560249.1_Missense_Mutation_p.E268Q|MEPE_ENST00000540395.1_Missense_Mutation_p.E268Q			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	381					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.E381Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACCCTCAAAAGAGAAAAGAAA	0.443000													21	89					0	0	0.204396	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506336	178506336	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:178506336A>T	ENST00000315475.6	+	5	1209	c.903A>T	c.(901-903)cgA>cgT	p.R301R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301R(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCGTATCGATGTAGGGAAT	0.418000													33	225					0	0	0.163468	0	0
FHL5	9457	broad.mit.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:97063550G>T	ENST00000326771.2	+	7	1137	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	FHL5_ENST00000541107.1_Missense_Mutation_p.G253W	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	253	LIM zinc-binding 4.					nucleus	zinc ion binding	p.G253W(2)|p.G253R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTTTAACTGCGGGAAATGCTC	0.458000													25	52					2.4375e-19	3.61305e-19	0.125774	1	0
CAMK2A	815	broad.mit.edu	37	5	149644579	149644579	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:149644579C>A	ENST00000348628.6	-	3	823		c.e3-1		CAMK2A_ENST00000398376.3_Splice_Site	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha						interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTGATGGTCTGAAACACAG	0.602000													15	73					2.32078e-09	2.75623e-09	0.132662	1	0
AHNAK2	113146	broad.mit.edu	37	14	105407714	105407714	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:105407714C>T	ENST00000333244.5	-	7	14193	c.14074G>A	c.(14074-14076)Gaa>Aaa	p.E4692K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4692						nucleus		p.E4692K(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTCCAACTTCTCCAACAGCA	0.413000													14	99					0	0	0.119110	0	0
FAM210A	125228	broad.mit.edu	37	18	13671873	13671873	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:13671873A>G	ENST00000322247.3	-	4	960	c.573T>C	c.(571-573)taT>taC	p.Y191Y	FAM210A_ENST00000588475.1_Intron|FAM210A_ENST00000402563.1_Silent_p.Y191Y	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	191	DUF1279.					integral to membrane											TAAACAAGGCATATGCTGTGA	0.463000													4	94					0	0	0.021553	0	0
ZNF680	340252	broad.mit.edu	37	7	63982636	63982636	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:63982636A>G	ENST00000309683.6	-	4	647	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F166L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GAATTTGAAAATTTATGAAAG	0.299000													5	76					0	0	0.184627	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175884	40175884	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:40175884C>T	ENST00000307641.5	+	4	1170	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NKIRAS2_ENST00000393885.4_Silent_p.N183N|NKIRAS2_ENST00000393880.1_Silent_p.N183N|NKIRAS2_ENST00000316082.4_Silent_p.N221N|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000449471.4_Silent_p.N127N|NKIRAS2_ENST00000393884.2_Silent_p.N181N|NKIRAS2_ENST00000393881.3_Silent_p.N183N	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	183	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	p.N183N(2)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCCGGAAGAACAAGGGCAGCG	0.607000													34	63					0	0	0.183431	0	0
SCN1A	6323	broad.mit.edu	37	2	166896013	166896013	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:166896013C>A	ENST00000423058.2	-	14	2526	c.2509G>T	c.(2509-2511)Ggt>Tgt	p.G837C	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.G837C|SCN1A_ENST00000375405.3_Missense_Mutation_p.G826C|SCN1A_ENST00000409050.1_Missense_Mutation_p.G809C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	837						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G837C(2)|p.G826C(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAATAAAACCGTCAAAGATA	0.363000													34	59					1.61788e-16	2.26078e-16	0.163468	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791250	50791250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:50791250C>A	ENST00000263046.4	+	3	405	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P71Q|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	71	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P71Q(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCCTACTTCCCACCCCCCTAC	0.682000													13	60					0.00185496	0.00192226	0.105934	1	0
PTPRD	5789	broad.mit.edu	37	9	8460541	8460541	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:8460541G>T	ENST00000381196.4	-	30	4288	c.3745C>A	c.(3745-3747)Ccc>Acc	p.P1249T	PTPRD_ENST00000397617.3_Missense_Mutation_p.P828T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P835T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P835T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1227T|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1249T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P838T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1236T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1249T|PTPRD_ENST00000486161.1_Missense_Mutation_p.P838T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P828T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1249T(4)|p.P720T(2)|p.P838T(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACACCACGGGGTCGGAGTAA	0.433000										TSP Lung(15;0.13)			12	127					1.5842e-08	1.84403e-08	0.105934	1	0
SOX14	8403	broad.mit.edu	37	3	137483858	137483858	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:137483858C>A	ENST00000306087.1	+	1	280	c.232C>A	c.(232-234)Cga>Aga	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	p.R78R(2)		large_intestine(2)|lung(12)	14						CTACAAGTACCGACCTCGGCG	0.612000													22	112					1.22574e-08	1.42962e-08	0.069288	1	0
LELP1	149018	broad.mit.edu	37	1	153177368	153177368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:153177368C>A	ENST00000368747.1	+	2	295	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	62	Cys/Pro-rich.							p.P62H(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTGCCCCTCGCAGTCT	0.592000													21	150					9.04072e-19	1.32168e-18	0.183431	1	0
GJB1	2705	broad.mit.edu	37	X	70443680	70443680	+	Missense_Mutation	SNP	G	G	T	rs116840816		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:70443680G>T	ENST00000374022.3	+	2	218	c.123G>T	c.(121-123)gaG>gaT	p.E41D	GJB1_ENST00000374029.1_Missense_Mutation_p.E41D|GJB1_ENST00000361726.6_Missense_Mutation_p.E41D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	41			E -> K (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	p.E41D(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TGGCTGCAGAGAGTGTGTGGG	0.532000													33	40					3.11337e-16	4.33503e-16	0.173368	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160273941	160273941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:160273941G>T	ENST00000264431.4	+	21	3906	c.3487G>T	c.(3487-3489)Gtg>Ttg	p.V1163L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1163	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.V1151L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTTGACTCAGTGCCAGTCTC	0.478000													39	146					3.78316e-11	4.68791e-11	0.086207	1	0
PRDM16	63976	broad.mit.edu	37	1	3328631	3328631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:3328631G>T	ENST00000378398.3	+	10	1955	c.1873G>T	c.(1873-1875)Gac>Tac	p.D625Y	PRDM16_ENST00000442529.2_Missense_Mutation_p.D624Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.D624Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.D624Y|PRDM16_ENST00000270722.5_Missense_Mutation_p.D624Y|PRDM16_ENST00000514189.1_Missense_Mutation_p.D625Y|PRDM16_ENST00000511072.1_Missense_Mutation_p.D625Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	624					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D624Y(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAG	0.677000			T	EVI1	"""MDS, AML"""								15	159					1.37285e-15	1.88466e-15	0.146539	1	0
USH2A	7399	broad.mit.edu	37	1	216051129	216051129	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:216051129C>T	ENST00000366943.2	-	43	9038	c.8652G>A	c.(8650-8652)caG>caA	p.Q2884Q	USH2A_ENST00000307340.3_Silent_p.Q2884Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2884	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q2884Q(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATAAAGCCACTGAGTTCCTG	0.383000										HNSCC(13;0.011)			171	352					0	0	0.139131	0	0
MEP1A	4224	broad.mit.edu	37	6	46806811	46806811	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:46806811G>T	ENST00000230588.4	+	14	2188	c.2179G>T	c.(2179-2181)Gct>Tct	p.A727S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	727					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A727S(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGAGGCACGGCTGGCGTGAT	0.602000													68	252					1.20466e-24	1.92976e-24	0.139131	1	0
OR3A3	8392	broad.mit.edu	37	17	3324705	3324705	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:3324705G>T	ENST00000291231.1	+	1	844	c.844G>T	c.(844-846)Ggg>Tgg	p.G282W		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G282W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAAGGATAAGGGGGTTGGGGT	0.507000													52	171					5.13769e-22	7.87465e-22	0.139131	1	0
BBS9	27241	broad.mit.edu	37	7	33545221	33545221	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:33545221G>A	ENST00000242067.6	+	20	2783	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	BBS9_ENST00000396127.2_Silent_p.A719A|BBS9_ENST00000355070.2_Silent_p.A749A|BBS9_ENST00000354265.4_Silent_p.A719A|BBS9_ENST00000350941.3_Silent_p.A714A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	754					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.A754A(4)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGGAAGCGGCATTTCTGC	0.498000									Bardet-Biedl syndrome				12	131					0	0	0.080935	0	0
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248059311C>G	ENST00000537741.1	+	3	680	c.423C>G	c.(421-423)tgC>tgG	p.C141W	OR2W3_ENST00000360358.3_Missense_Mutation_p.C141W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141W(2)|p.C141*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAGGCTCTGCCGGGGCTTGG	0.627000													33	129					0	0	0.183431	0	0
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:25835674G>T	ENST00000280701.3	+	3	1168	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	OXSM_ENST00000420173.2_Missense_Mutation_p.A274S	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	357					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.A357S(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ATTGGGAGATGCTGCTGAAAA	0.453000													37	98					4.31865e-32	7.58191e-32	0.214465	1	0
FAM135B	51059	broad.mit.edu	37	8	139209901	139209901	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:139209901G>A	ENST00000395297.1	-	8	851	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	227								p.Y227Y(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGAGGTGATGTAGAAGCTTC	0.582000										HNSCC(54;0.14)			32	141					0	0	0.173368	0	0
OR6C6	283365	broad.mit.edu	37	12	55688351	55688351	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:55688351G>T	ENST00000358433.2	-	1	665	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T222T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTTCAGAATGGTCTTAATAA	0.398000													5	168					3.59834e-05	3.87284e-05	0.021553	1	0
SMOC1	64093	broad.mit.edu	37	14	70490078	70490078	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:70490078G>T	ENST00000381280.4	+	11	1458	c.1205G>T	c.(1204-1206)cGg>cTg	p.R402L	SMOC1_ENST00000361956.3_Missense_Mutation_p.R402L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	402	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.R402L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAATGTGCCCGGCGTTTCACC	0.527000													41	313					7.53189e-24	1.19348e-23	0.098360	1	0
TEX2	55852	broad.mit.edu	37	17	62272302	62272302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:62272302C>A	ENST00000258991.3	-	3	1882	c.1798G>T	c.(1798-1800)Gag>Tag	p.E600*	TEX2_ENST00000584379.1_Nonsense_Mutation_p.E600*|TEX2_ENST00000583097.1_Nonsense_Mutation_p.E600*			Q8IWB9	TEX2_HUMAN	testis expressed 2	600					signal transduction|sphingolipid metabolic process	integral to membrane		p.E600*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAGGTGACCTCTGGCTTGGGT	0.443000													48	159					1.41401e-22	2.19762e-22	0.139131	1	0
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:71114727G>C	ENST00000304954.3	+	4	186	c.100G>C	c.(100-102)Gat>Cat	p.D34H		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	34						extracellular region	protein binding	p.D34H(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATGAGAATGATGAAAGACC	0.308000													28	132					0	0	0.108266	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816575	80816575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:80816575G>T	ENST00000466387.1	+	19	2878	c.2154G>T	c.(2152-2154)atG>atT	p.M718I	CTNNA2_ENST00000402739.4_Missense_Mutation_p.M718I|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.M397I|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M718I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M718I|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M752I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	718					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.M718I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAAGCAGATGTGTATGATCA	0.458000													23	112					1.36565e-18	1.9915e-18	0.076483	1	0
RGS22	26166	broad.mit.edu	37	8	101051202	101051202	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:101051202T>C	ENST00000360863.6	-	14	2317	c.2123A>G	c.(2122-2124)tAc>tGc	p.Y708C	RGS22_ENST00000523437.1_Missense_Mutation_p.Y696C|RGS22_ENST00000523287.1_Missense_Mutation_p.Y527C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	708					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.Y708C(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTTTCTTGGTAGAAAAGCTG	0.358000													25	128					0	0	0.091800	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444315	5444315	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:5444315T>A	ENST00000300778.4	+	1	975	c.885T>A	c.(883-885)agT>agA	p.S295R	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S295R(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTTACAGTGTAAAGAACA	0.428000													14	102					0	0	0.119110	0	0
LONRF3	79836	broad.mit.edu	37	X	118147138	118147138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:118147138G>T	ENST00000365713.2	+	8	1988	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.D609Y|LONRF3_ENST00000371628.3_Missense_Mutation_p.D650Y|LONRF3_ENST00000422289.2_Missense_Mutation_p.D394Y			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	650	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.D609Y(2)|p.D650Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAACACAGCCGACATTGAATA	0.488000													26	28					2.79863e-10	3.39606e-10	0.099896	1	0
FOXD4L1	200350	broad.mit.edu	37	2	114257955	114257955	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:114257955A>T	ENST00000306507.5	+	1	1295	c.1122A>T	c.(1120-1122)ggA>ggT	p.G374G		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	374					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G374G(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CATCAGGAGGAGGACTGCGCC	0.687000													14	121					0	0	0.204396	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974501	129974501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:129974501G>T	ENST00000259351.5	+	15	1606	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	RALGPS1_ENST00000373434.1_Missense_Mutation_p.G405W|RALGPS1_ENST00000424082.2_Missense_Mutation_p.G405W	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	447	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G447W(2)|p.G405W(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCAAGGAAGGGCGGAAGCC	0.592000													10	77					0.00829132	0.00849443	0.069234	1	0
NDST3	9348	broad.mit.edu	37	4	119158234	119158234	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:119158234C>A	ENST00000296499.5	+	10	2380	c.1977C>A	c.(1975-1977)gtC>gtA	p.V659V	NDST3_ENST00000433996.2_3'UTR	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	659	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.V659V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATCTAATGTCACTACCGACT	0.393000													25	81					9.57634e-11	1.17546e-10	0.083992	1	0
IL25	64806	broad.mit.edu	37	14	23842476	23842476	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:23842476A>G	ENST00000329715.2	+	1	407	c.149A>G	c.(148-150)gAg>gGg	p.E50G	IL25_ENST00000397242.2_Missense_Mutation_p.E34G	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	50					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	p.E50G(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACCTCTGAGGAGCTGCTGAGG	0.612000													15	112					0	0	0.132662	0	0
COBL	23242	broad.mit.edu	37	7	51111277	51111277	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:51111277C>A	ENST00000395542.2	-	10	1639	c.1455G>T	c.(1453-1455)acG>acT	p.T485T	COBL_ENST00000265136.7_Silent_p.T403T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	403								p.T403T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGTCCTCGGTCGTGTCCTCCG	0.607000													55	118					4.65455e-14	6.20784e-14	0.139131	1	0
ERN2	10595	broad.mit.edu	37	16	23713521	23713521	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:23713521T>C	ENST00000256797.4	-	11	1467	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	ERN2_ENST00000457008.2_Silent_p.A385A	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	385					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.A433A(2)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTCTTGTCTCTGCAGTTCCAC	0.622000													82	231					0	0	0.139131	0	0
GPR63	81491	broad.mit.edu	37	6	97247592	97247592	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:97247592C>A	ENST00000229955.3	-	2	361	c.16G>T	c.(16-18)Gtg>Ttg	p.V6L	GPR63_ENST00000417980.1_Missense_Mutation_p.V6L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	6						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V6L(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCAGTCAACACTGCCGAGAAG	0.463000													30	96					8.16721e-17	1.1495e-16	0.153744	1	0
NID1	4811	broad.mit.edu	37	1	236195859	236195859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:236195859G>T	ENST00000264187.6	-	6	1461	c.1379C>A	c.(1378-1380)tCt>tAt	p.S460Y	NID1_ENST00000366595.3_Missense_Mutation_p.S460Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	460	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S460Y(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TACTACGTAAGAGTGGAGGTC	0.552000													36	107					6.05902e-23	9.48544e-23	0.193644	1	0
KIAA1468	57614	broad.mit.edu	37	18	59942667	59942667	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:59942667T>A	ENST00000256858.6	+	23	3278	c.3030T>A	c.(3028-3030)acT>acA	p.T1010T	KIAA1468_ENST00000398130.2_Silent_p.T976T			Q9P260	K1468_HUMAN	KIAA1468	976							binding	p.T976T(2)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGTCCATACTTCAGCACTCG	0.363000													25	93					0	0	0.134883	0	0
CAMK4	814	broad.mit.edu	37	5	110730473	110730473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:110730473C>A	ENST00000282356.4	+	5	850	c.452C>A	c.(451-453)gCa>gAa	p.A151E	CAMK4_ENST00000512453.1_Missense_Mutation_p.A151E	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	151	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A151E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCCTGGAGGCAGTTGCTGTA	0.408000													22	98					3.10358e-05	3.34958e-05	0.069288	1	0
MEF2C	4208	broad.mit.edu	37	5	88057031	88057031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:88057031C>A	ENST00000504921.2	-	4	1045	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000514015.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000508569.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000510942.1_Missense_Mutation_p.D125Y|MEF2C_ENST00000437473.2_Missense_Mutation_p.D125Y|MEF2C_ENST00000506554.1_Missense_Mutation_p.D125Y			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	125					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D125Y(2)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCATTAGATCAATATCTTCG	0.453000										HNSCC(66;0.2)			46	177					2.65591e-33	4.73375e-33	0.139131	1	0
PTPRF	5792	broad.mit.edu	37	1	44084819	44084819	+	Missense_Mutation	SNP	G	G	A	rs70937045		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:44084819G>A	ENST00000359947.4	+	27	4932	c.4592G>A	c.(4591-4593)cGa>cAa	p.R1531Q	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1522Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1531Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R890Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1531	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R1521Q(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTCCTACGACGGGTCAAG	0.627000													13	61					0	0	0.093190	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814424	106814424	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:106814424A>G	ENST00000407775.2	+	8	2364	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H573R|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H573R|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H436R|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	705					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.H705R(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACATGGTCCACAAACAGTAT	0.517000													35	68					0	0	0.086207	0	0
USP8	9101	broad.mit.edu	37	15	50741619	50741619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:50741619G>T	ENST00000433963.1	+	5	772	c.272G>T	c.(271-273)gGa>gTa	p.G91V	USP8_ENST00000425032.3_Intron|USP8_ENST00000396444.3_Missense_Mutation_p.G91V|USP8_ENST00000307179.4_Missense_Mutation_p.G91V	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	91	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G91V(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCAATACTTGGACCTGGAAAC	0.303000													13	36					9.16793e-09	1.07142e-08	0.160694	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774234	140774234	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140774234G>C	ENST00000398604.2	+	1	1854	c.1854G>C	c.(1852-1854)tcG>tcC	p.S618S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1												p.S618S(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.682000													12	64					0	0	0.189662	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945446	48945446	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:48945446T>A	ENST00000263269.3	+	12	2568	c.2480T>A	c.(2479-2481)aTc>aAc	p.I827N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	827						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.I827N(2)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTCTCTGGGATCTGCCACAAT	0.567000													54	125					0	0	0.139131	0	0
OTOF	9381	broad.mit.edu	37	2	26696880	26696880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:26696880C>A	ENST00000272371.2	-	27	3513	c.3387G>T	c.(3385-3387)gtG>gtT	p.V1129V	OTOF_ENST00000339598.3_Silent_p.V382V|OTOF_ENST00000338581.6_Silent_p.V382V|OTOF_ENST00000402415.3_Silent_p.V439V|OTOF_ENST00000403946.3_Silent_p.V1129V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1129					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.V439V(2)|p.V1129V(2)|p.V382V(2)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGCTGAGCACGGGCCGGA	0.642000													38	108					1.07637e-12	1.38813e-12	0.214465	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854254	178854254	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:178854254G>C	ENST00000367635.3	+	12	1286	c.948G>C	c.(946-948)gtG>gtC	p.V316V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Silent_p.V281V|RALGPS2_ENST00000367634.2_Silent_p.V316V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	316					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAAAAGTGTGGCAGCTGAAG	0.448000													37	79					0	0	0.203993	0	0
ESR2	2100	broad.mit.edu	37	14	64699947	64699947	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:64699947G>A	ENST00000341099.4	-	9	1918	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.R410C|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000358599.5_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	501	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R501C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TTGCACCCGCGAAGCACGTGG	0.562000													6	190					0	0	0.021553	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136969	108136969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:108136969G>T	ENST00000374720.3	+	13	1832	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L	SLC44A1_ENST00000374724.1_Missense_Mutation_p.V529L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V321L|SLC44A1_ENST00000374723.1_Missense_Mutation_p.V529L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	529						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.V529L(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGCTTTGCGAGTGGCTACCAT	0.393000													53	173					9.53978e-28	1.60044e-27	0.139131	1	0
GABRB1	2560	broad.mit.edu	37	4	47427876	47427876	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:47427876G>T	ENST00000295454.3	+	9	1558	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	GABRB1_ENST00000538619.1_Silent_p.G352G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	422					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G422G(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCGGCACGGGGTACCCAGCA	0.627000													41	127					2.58029e-29	4.39813e-29	0.111260	1	0
POLQ	10721	broad.mit.edu	37	3	121209249	121209249	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:121209249C>A	ENST00000264233.5	-	16	2657	c.2529G>T	c.(2527-2529)cgG>cgT	p.R843R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	843					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R978R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCACTGCCTTCCGGGCACTAC	0.443000								DNA polymerases (catalytic subunits)					54	151					9.72345e-25	1.56189e-24	0.139131	1	0
CSMD1	64478	broad.mit.edu	37	8	2967787	2967787	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:2967787C>A	ENST00000602557.1	-	44	7059	c.6504G>T	c.(6502-6504)ccG>ccT	p.P2168P	CSMD1_ENST00000400186.3_Silent_p.P2168P|CSMD1_ENST00000537824.1_Silent_p.P2167P|CSMD1_ENST00000542608.1_Silent_p.P2167P|CSMD1_ENST00000602723.1_Silent_p.P2168P|CSMD1_ENST00000520002.1_Silent_p.P2168P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2168	CUB 13.					integral to membrane		p.P2167P(2)|p.P1896P(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCAGGATCGGATACTCAT	0.502000													6	29					0.0215528	0.0218324	0.021553	1	0
C22orf42	150297	broad.mit.edu	37	22	32550243	32550243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:32550243G>T	ENST00000382097.3	-	2	367	c.295C>A	c.(295-297)Cta>Ata	p.L99I		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	99								p.L99I(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATATTTTCTAGAGGCCAAATC	0.378000													53	125					1.77791e-30	3.07979e-30	0.139131	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951975	119951975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:119951975G>T	ENST00000307142.4	+	4	2241	c.2045G>T	c.(2044-2046)gGa>gTa	p.G682V	SYNPO2_ENST00000429713.2_Missense_Mutation_p.G682V|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G682V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	682						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.G682V(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAAGAACAGGAATATTGCAG	0.498000													14	97					1.52009e-12	1.94965e-12	0.132662	1	0
CNGB3	54714	broad.mit.edu	37	8	87645122	87645122	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:87645122C>A	ENST00000320005.5	-	11	1226		c.e11-1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCAGATACCTGTGAAAACA	0.303000													35	81					6.29468e-14	8.33832e-14	0.214465	1	0
GRM8	2918	broad.mit.edu	37	7	126173694	126173694	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:126173694G>T	ENST00000339582.2	-	9	2550	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	GRM8_ENST00000444921.2_Missense_Mutation_p.S581Y|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S581Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	581					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S581Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCCAGGGAGAATGCCACTC	0.512000										HNSCC(24;0.065)			5	107					3.59834e-05	3.87284e-05	0.021553	1	0
CDH12	1010	broad.mit.edu	37	5	21765146	21765146	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:21765146G>A	ENST00000382254.1	-	12	2542	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.P446S|CDH12_ENST00000504376.2_Missense_Mutation_p.P486S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	486	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P486S(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTCTGGAGGAAATTCATTT	0.338000										HNSCC(59;0.17)			14	244					0	0	0.132662	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337510	22337510	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22337510C>A	ENST00000390436.2	+	0	324																											AGAGACCCAACCTGAAGACTC	0.493000													39	100					5.71845e-15	7.75933e-15	0.080422	1	0
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:37026967G>C	ENST00000358047.3	+	1	536	c.484G>C	c.(484-486)Gca>Cca	p.A162P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTGGAGGACGCAGGCTCTTG	0.582000													17	41					0	0	0.146539	0	0
OR2B11	127623	broad.mit.edu	37	1	247614463	247614463	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247614463C>A	ENST00000318749.6	-	1	845	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q274H(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAAATTTGCCCTGCTCTTGGG	0.493000													94	370					5.88579e-26	9.58589e-26	0.139131	1	0
GPR132	29933	broad.mit.edu	37	14	105518393	105518393	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:105518393G>T	ENST00000329797.3	-	4	992	c.81C>A	c.(79-81)ggC>ggA	p.G27G	GPR132_ENST00000539291.2_Silent_p.G27G|GPR132_ENST00000392585.2_Silent_p.G18G|GPR132_ENST00000546679.1_5'UTR	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	27					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G27G(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TGGCGGAGAGGCCCAGGGAGG	0.637000													52	128					3.07002e-29	5.22528e-29	0.139131	1	0
DLL3	10683	broad.mit.edu	37	19	39989617	39989617	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:39989617G>T	ENST00000205143.4	+	1	10	c.3G>T	c.(1-3)atG>atT	p.M1I	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Start_Codon_SNP_p.M1I	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	1					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	p.M1I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAAGGCCATGGTCTCCCCAC	0.642000													65	148					2.10938e-32	3.72562e-32	0.139131	1	0
KRT5	3852	broad.mit.edu	37	12	52910579	52910579	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:52910579A>G	ENST00000252242.4	-	7	1671	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	427	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.D427D(2)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCCTGGCATCCTTGAGGG	0.617000													102	107					0	0	0.139131	0	0
JMY	133746	broad.mit.edu	37	5	78610543	78610543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:78610543G>T	ENST00000396137.4	+	9	2990	c.2528G>T	c.(2527-2529)aGa>aTa	p.R843I	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	843					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.R489I(2)|p.R843I(2)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GATCTGCCTAGAAAGGAGGGG	0.592000													28	80					1.88708e-17	2.69485e-17	0.134883	1	0
RYR2	6262	broad.mit.edu	37	1	237798280	237798280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:237798280G>A	ENST00000366574.2	+	44	7097	c.6780G>A	c.(6778-6780)ccG>ccA	p.P2260P	RYR2_ENST00000360064.6_Silent_p.P2258P|RYR2_ENST00000542537.1_Silent_p.P2244P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2260	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P2258P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGTGAGCCGGATCTAGAAA	0.423000													3	25					0	0	0.115264	0	0
ATP2B3	492	broad.mit.edu	37	X	152814180	152814180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:152814180G>A	ENST00000370186.1	+	8	1490	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*	ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.W388*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.W402*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.W388*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	402					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.W402*(6)|p.W388*(2)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGACATGGCTGGCAGAGT	0.562000													12	80					0	0	0.105934	0	0
USP54	159195	broad.mit.edu	37	10	75290091	75290091	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:75290091C>T	ENST00000339859.4	-	13	1738	c.1638G>A	c.(1636-1638)agG>agA	p.R546R	USP54_ENST00000408019.1_Silent_p.R546R|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Silent_p.R396R|USP54_ENST00000319786.7_Silent_p.R546R|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	546					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R546R(2)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AAGGCAGGGTCCTAGGAGGTT	0.507000													20	122					0	0	0.055883	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301896	139301896	+	Silent	SNP	G	G	A	rs3841201		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:139301896G>A	ENST00000298537.7	-	4	662	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	SDCCAG3_ENST00000357365.3_Silent_p.L174L|SDCCAG3_ENST00000371725.3_Silent_p.L101L	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	174						cytoplasm		p.L174L(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCTCATCCAGGAGGTCACCA	0.647000													9	32					0	0	0.047766	0	0
APOB	338	broad.mit.edu	37	2	21239499	21239499	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:21239499G>T	ENST00000233242.1	-	21	3271	c.3144C>A	c.(3142-3144)acC>acA	p.T1048T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1048					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.T1048T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAATGTCATGGTAGCCTCAG	0.468000													15	92					8.28177e-16	1.14094e-15	0.189662	1	0
GANAB	23193	broad.mit.edu	37	11	62398602	62398602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:62398602C>A	ENST00000346178.4	-	11	1131	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	GANAB_ENST00000540933.1_Missense_Mutation_p.Q253H|GANAB_ENST00000534779.1_Missense_Mutation_p.Q258H|GANAB_ENST00000356638.3_Missense_Mutation_p.Q350H	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	350					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.Q350H(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAACATCTGTCTGTGGGGTCT	0.547000													194	619					3.33532e-74	6.55312e-74	0.139131	1	0
FCRLA	84824	broad.mit.edu	37	1	161680698	161680698	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:161680698C>A	ENST00000367959.2	+	3	539	c.297C>A	c.(295-297)tcC>tcA	p.S99S	FCRLA_ENST00000236938.6_Silent_p.S93S|FCRLA_ENST00000349527.4_Silent_p.S76S|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Silent_p.S82S|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000309691.6_Silent_p.S76S|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Silent_p.S93S|FCRLA_ENST00000367950.1_Silent_p.S53S|FCRLA_ENST00000540926.1_Silent_p.S82S|FCRLA_ENST00000367949.2_Silent_p.S93S	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGATTGTGTCCTATGGTGAGG	0.552000													35	174					1.07637e-12	1.38813e-12	0.214465	1	0
OR6C1	390321	broad.mit.edu	37	12	55714510	55714510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:55714510C>A	ENST00000379668.2	+	1	165	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43I(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GAACCTGACCCTTATCACAAT	0.423000													70	83					1.46168e-27	2.44518e-27	0.139131	1	0
RPGR	6103	broad.mit.edu	37	X	38146246	38146246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:38146246C>A	ENST00000378505.2	-	15	2182	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	658	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.W669L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cTCATCTTGCCAGTGTTCTGC	0.532000													95	117					2.68325e-40	4.95597e-40	0.139131	1	0
BLOC1S4	55330	broad.mit.edu	37	4	6718442	6718442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:6718442C>T	ENST00000320776.3	+	1	601	c.506C>T	c.(505-507)gCg>gTg	p.A169V		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino									p.A169V(2)									TTCCCCAGGGCGTTCAAGAAG	0.657000													10	60					0	0	0.069234	0	0
ABCA10	10349	broad.mit.edu	37	17	67151277	67151277	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:67151277C>A	ENST00000269081.4	-	31	4486	c.3576_splice	c.e31-1	p.E1193_splice	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1193					transport	integral to membrane	ATP binding|ATPase activity	p.E1193*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGACTGGTTCCTGGAAAACA	0.323000													26	68					3.73148e-12	4.74436e-12	0.125774	1	0
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:154490316G>T	ENST00000369454.3	-	2	714	c.414C>A	c.(412-414)gcC>gcA	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488000													61	57					3.37043e-27	5.56668e-27	0.139131	1	0
ERI3	79033	broad.mit.edu	37	1	44820666	44820666	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:44820666C>T	ENST00000372257.2	-	1	214	c.33G>A	c.(31-33)ggG>ggA	p.G11G	ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	11						intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.G11G(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCGCCCCCGCCCCCCGTCAG	0.751000													6	11					0	0	0.038147	0	0
PAQR9	344838	broad.mit.edu	37	3	142681802	142681802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:142681802G>T	ENST00000340634.3	-	1	376	c.377C>A	c.(376-378)gCg>gAg	p.A126E	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	126						integral to membrane	receptor activity	p.A126E(2)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACTCCCGACGCGTAGCACCA	0.652000													12	34					2.32078e-09	2.75623e-09	0.132662	1	0
LGALS9	3965	broad.mit.edu	37	17	25967657	25967657	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:25967657C>T	ENST00000395473.2	+	3	1659	c.191C>T	c.(190-192)cCt>cTt	p.P64L	LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Missense_Mutation_p.P64L|LGALS9_ENST00000310394.5_Missense_Mutation_p.P64L|LGALS9_ENST00000302228.5_Missense_Mutation_p.P64L|AC015688.3_ENST00000584605.1_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	64	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.P64L(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CACTTCAACCCTCGGTTTGAA	0.527000													67	147					0	0	0.139131	0	0
ASB15	142685	broad.mit.edu	37	7	123257664	123257664	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:123257664C>A	ENST00000451558.1	+	9	845	c.324C>A	c.(322-324)acC>acA	p.T108T	RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Silent_p.T108T|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Silent_p.T108T|ASB15_ENST00000540573.1_Silent_p.T108T|ASB15_ENST00000434204.1_Silent_p.T108T			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATTCAAGACCTGTGATGGAG	0.388000													64	153					1.08321e-29	1.85444e-29	0.139131	1	0
RICTOR	253260	broad.mit.edu	37	5	39021164	39021164	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:39021164C>A	ENST00000357387.3	-	3	202	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G58C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	58					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G58C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCAGATGGCCTAGCTTTCTC	0.328000													50	280					4.17463e-26	6.80848e-26	0.139131	1	0
HCN1	348980	broad.mit.edu	37	5	45262703	45262703	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:45262703G>A	ENST00000303230.4	-	8	2050	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	665						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TACACCGGTGGAGATTGTGTC	0.577000													5	155					0	0	0.184627	0	0
ZNF292	23036	broad.mit.edu	37	6	87966098	87966098	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:87966098G>T	ENST00000369577.3	+	8	2794	c.2751G>T	c.(2749-2751)ttG>ttT	p.L917F	ZNF292_ENST00000339907.4_Missense_Mutation_p.L912F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L917F(2)|p.L772F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACCATTGTCAAATGGTT	0.443000													43	92					1.02687e-29	1.76056e-29	0.131918	1	0
VCAN	1462	broad.mit.edu	37	5	82837202	82837202	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:82837202G>C	ENST00000265077.3	+	8	8945	c.8380G>C	c.(8380-8382)Gag>Cag	p.E2794Q	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E1807Q|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2794	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2794Q(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGTGTAACAGAGGTGCCTGA	0.433000													24	296					0	0	0.091800	0	0
GARNL3	84253	broad.mit.edu	37	9	130101923	130101923	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:130101923G>A	ENST00000373387.4	+	13	1380		c.e13-1		GARNL3_ENST00000314904.5_Splice_Site|GARNL3_ENST00000435213.2_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCTCTACTTAGGCTGAAAATA	0.438000													20	156					0	0	0.189662	0	0
SRGAP2	23380	broad.mit.edu	37	1	206611329	206611329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:206611329C>T	ENST00000414007.1	+	12	1229	c.1229C>T	c.(1228-1230)gCt>gTt	p.A410V	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	550					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.A410V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GACCCCCTGGCTGGGGACCAG	0.542000													31	228					0	0	0.193644	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486483	76486483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:76486483C>A	ENST00000307431.8	+	9	1532	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335T|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTAGCACTGCCAGACTTCTC	0.428000													38	148					2.40579e-17	3.41891e-17	0.086207	1	0
HEATR5A	25938	broad.mit.edu	37	14	31778370	31778370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:31778370G>T	ENST00000543095.2	-	29	4644	c.4460C>A	c.(4459-4461)gCa>gAa	p.A1487E	HEATR5A_ENST00000439727.1_Missense_Mutation_p.A1194E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A1481E|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A1481E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1481							binding	p.A1481E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTAGTCTCTGCTGTGTAGAA	0.368000													59	142					4.88506e-25	7.8685e-25	0.139131	1	0
CAMTA1	23261	broad.mit.edu	37	1	7700548	7700548	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:7700548A>G	ENST00000303635.7	+	7	806	c.599A>G	c.(598-600)aAc>aGc	p.N200S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N200S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.N200S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCTCCATCAACACCGACAAG	0.627000			T	WWTR1	epitheliod hemangioendothelioma								6	168					0	0	0.029380	0	0
FBN2	2201	broad.mit.edu	37	5	127648343	127648343	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:127648343C>T	ENST00000508053.1	-	43	5836	c.4862G>A	c.(4861-4863)tGc>tAc	p.C1621Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C1621Y			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.C1621Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGGGGGGCATGTCTCACA	0.512000													14	691					0	0	0.132662	0	0
FSIP2	401024	broad.mit.edu	37	2	186672293	186672293	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:186672293C>A	ENST00000343098.5	+	17	18527	c.18527C>A	c.(18526-18528)tCt>tAt	p.S6176Y	FSIP2_ENST00000424728.1_Missense_Mutation_p.S6087Y	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.S785Y(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGGTTCAGTCTGTTTATAAT	0.333000													51	132					1.86633e-21	2.84938e-21	0.139131	1	0
CCDC136	64753	broad.mit.edu	37	7	128450286	128450286	+	Missense_Mutation	SNP	C	C	A	rs116868322	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:128450286C>A	ENST00000297788.4	+	12	2261	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	632						integral to membrane	protein binding	p.Q632K(4)|p.Q748K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATACAGAACCAAGACTGTGT	0.468000													16	28					3.45872e-05	3.72943e-05	0.146539	1	0
ACSL1	2180	broad.mit.edu	37	4	185697670	185697670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:185697670C>A	ENST00000515030.1	-	7	1049	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	ACSL1_ENST00000504900.1_Missense_Mutation_p.G242W|ACSL1_ENST00000513317.1_Missense_Mutation_p.G242W|ACSL1_ENST00000504342.1_Missense_Mutation_p.G242W|ACSL1_ENST00000281455.2_Missense_Mutation_p.G242W|ACSL1_ENST00000454703.2_Missense_Mutation_p.G71W|ACSL1_ENST00000437665.3_Missense_Mutation_p.G71W|ACSL1_ENST00000507295.1_Missense_Mutation_p.G208W			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	242					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G242W(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTTCCACCCCACACCTCTGG	0.522000													37	179					4.62619e-21	7.03541e-21	0.203993	1	0
CHD5	26038	broad.mit.edu	37	1	6173020	6173020	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:6173020G>A	ENST00000262450.3	-	34	5050	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	CHD5_ENST00000378021.1_Silent_p.L508L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1651					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L1651L(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCAGCTCCAGCTTGTCCAGG	0.577000													18	167					0	0	0.189662	0	0
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:86838537C>A	ENST00000441037.2	+	16	2229	c.2134C>A	c.(2134-2136)Cgg>Agg	p.R712R	AGBL1_ENST00000421325.2_Silent_p.R712R|AGBL1_ENST00000389298.3_Silent_p.R443R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R712R(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTCTACTTCCGGCAAGATGT	0.468000													36	85					6.50621e-10	7.81413e-10	0.173368	1	0
CSMD3	114788	broad.mit.edu	37	8	113988292	113988292	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113988292G>T	ENST00000297405.5	-	7	1360	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	CSMD3_ENST00000343508.3_Missense_Mutation_p.S332R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S372R|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	372						integral to membrane|plasma membrane		p.S372R(2)|p.S332R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCAGGTGTGCTAGCAACAG	0.483000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	175					5.77227e-19	8.47034e-19	0.134883	1	0
TRIB2	28951	broad.mit.edu	37	2	12880889	12880889	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:12880889T>A	ENST00000155926.4	+	3	2420	c.1001T>A	c.(1000-1002)aTg>aAg	p.M334K	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198K	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACGTCAACATGGAAGAGAAC	0.512000													15	75					0	0	0.146539	0	0
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:141734530G>T	ENST00000475668.2	+	16	1902	c.1848G>T	c.(1846-1848)gcG>gcT	p.A616A	MGAM_ENST00000549489.2_Silent_p.A616A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	616	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A616A(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCTTTGCGGGCTCTGGCA	0.498000													10	96					1.33987e-11	1.68708e-11	0.069234	1	0
AGL	178	broad.mit.edu	37	1	100336081	100336081	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:100336081G>T	ENST00000294724.4	+	6	1268	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	AGL_ENST00000370161.2_Missense_Mutation_p.G248W|AGL_ENST00000361915.3_Missense_Mutation_p.G264W|AGL_ENST00000361522.4_Missense_Mutation_p.G247W|AGL_ENST00000370165.3_Missense_Mutation_p.G264W|AGL_ENST00000361302.3_Missense_Mutation_p.G248W|AGL_ENST00000370163.3_Missense_Mutation_p.G264W	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	264					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.G264W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGTTGCAGAAGGGAAATACAA	0.383000													24	94					9.86323e-18	1.41716e-17	0.091800	1	0
G2E3	55632	broad.mit.edu	37	14	31077153	31077153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:31077153G>T	ENST00000206595.6	+	12	1532	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	G2E3_ENST00000553504.1_Missense_Mutation_p.G490C|G2E3_ENST00000438909.2_Missense_Mutation_p.G414C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	460	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.G460C(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTAGTTCACGGTGGTCCTTC	0.348000													18	113					9.7654e-05	0.000104241	0.189662	1	0
PHACTR3	116154	broad.mit.edu	37	20	58348406	58348406	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:58348406C>T	ENST00000371015.1	+	6	1291	c.824C>T	c.(823-825)cCc>cTc	p.P275L	PHACTR3_ENST00000359926.3_Missense_Mutation_p.P272L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P234L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P164L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P234L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P234L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P164L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	275						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P275L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCTCCACACCCACGGGGTCT	0.662000													20	181					0	0	0.204396	0	0
KAT6B	23522	broad.mit.edu	37	10	76736089	76736089	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:76736089G>T	ENST00000287239.4	+	8	2482		c.e8+1		KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B						histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.?(2)									CAGGATGATGGTAAGCAAAAG	0.473000													21	97					4.96729e-08	5.69706e-08	0.204396	1	0
ZAN	7455	broad.mit.edu	37	7	100348394	100348394	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:100348394G>A	ENST00000542585.1	+	0	1544				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TACTATGCTCGAACTCCTCCT	0.622000													4	48					0	0	0.150653	0	0
STIM1	6786	broad.mit.edu	37	11	4104157	4104157	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:4104157C>T	ENST00000300737.4	+	9	1752	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y	STIM1_ENST00000533977.1_Missense_Mutation_p.H222Y|STIM1_ENST00000527651.1_Missense_Mutation_p.H395Y	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	395					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.H395Y(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGCACCTTCCACGTGGCCCA	0.433000													37	89					0	0	0.092188	0	0
SYNE1	23345	broad.mit.edu	37	6	152763330	152763330	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:152763330G>T	ENST00000367255.5	-	31	4489	c.3888C>A	c.(3886-3888)atC>atA	p.I1296I	SYNE1_ENST00000413186.2_Silent_p.I1296I|SYNE1_ENST00000367253.4_Silent_p.I1296I|SYNE1_ENST00000341594.5_Silent_p.I1362I|SYNE1_ENST00000423061.1_Silent_p.I1303I|SYNE1_ENST00000367248.3_Silent_p.I1286I|SYNE1_ENST00000265368.4_Silent_p.I1296I|SYNE1_ENST00000448038.1_Silent_p.I1303I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I1296I(4)|p.I1303I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCTGCGCGATCTGCTGCT	0.557000										HNSCC(10;0.0054)			51	97					4.1673e-28	7.02146e-28	0.139131	1	0
GSTZ1	2954	broad.mit.edu	37	14	77791214	77791214	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:77791214C>T	ENST00000216465.5	+	2	302	c.15_splice	c.e2-1	p.P6_splice	GSTZ1_ENST00000556627.1_Splice_Site_p.P6_splice|GSTZ1_ENST00000557053.1_Intron|GSTZ1_ENST00000557639.1_Intron|GSTZ1_ENST00000554279.1_Splice_Site_p.P6_splice|GSTZ1_ENST00000553586.1_Splice_Site_p.P7_splice|GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000349555.3_Splice_Site_p.P6_splice	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	6	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TCTCCTCAGCCCATCCTCTAT	0.562000													8	123					0	0	0.058154	0	0
CNOT1	23019	broad.mit.edu	37	16	58616700	58616700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:58616700T>A	ENST00000317147.5	-	10	1373	c.1041A>T	c.(1039-1041)gaA>gaT	p.E347D	CNOT1_ENST00000569240.1_Missense_Mutation_p.E347D|CNOT1_ENST00000441024.2_Missense_Mutation_p.E347D	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	347					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E347D(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TACTCACCAGTTCTTTAAGAA	0.383000													30	131					0	0	0.173368	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605956	13605956	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:13605956A>G	ENST00000040738.5	-	10	2703	c.2568T>C	c.(2566-2568)ggT>ggC	p.G856G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	856	Lys-rich.						DNA binding	p.G856G(2)									GTTGCTTGGAACCCAGAGAAT	0.368000													10	82					0	0	0.058154	0	0
LIPK	643414	broad.mit.edu	37	10	90499787	90499787	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:90499787C>T	ENST00000404190.1	+	7	851	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	284					lipid catabolic process	extracellular region	hydrolase activity	p.A284V(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACAATCCTGCGGGAACATCT	0.423000													58	76					0	0	0.139131	0	0
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:78959150G>C	ENST00000370756.3	+	2	959	c.722G>C	c.(721-723)aGa>aCa	p.R241T	PTGFR_ENST00000370757.3_Missense_Mutation_p.R241T|PTGFR_ENST00000370758.1_Missense_Mutation_p.R241T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	241					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R241T(4)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423000													39	114					0	0	0.214465	0	0
OR2C3	81472	broad.mit.edu	37	1	247695356	247695356	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247695356C>A	ENST00000366487.3	-	2	819	c.458G>T	c.(457-459)gGt>gTt	p.G153V	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTGGTCAGACCCCCCAGCCA	0.562000													18	52					0.00498961	0.00512979	0.160694	1	0
FREM1	158326	broad.mit.edu	37	9	14784421	14784421	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:14784421C>A	ENST00000380881.4	-	25	5207	c.4392G>T	c.(4390-4392)caG>caT	p.Q1464H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q1463H|FREM1_ENST00000380880.3_Missense_Mutation_p.Q1463H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1463					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q1464H(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAAACTGTCTGCCCCACTA	0.458000													42	86					2.47872e-24	3.9491e-24	0.117977	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478264	14478264	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:14478264G>T	ENST00000581457.1	-	0	1644					NR_024076.1																						AGGTGGGAGAGTTGGACTCTG	0.488000													14	52					4.36969e-10	5.26431e-10	0.105934	1	0
NLRP14	338323	broad.mit.edu	37	11	7092508	7092508	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:7092508A>T	ENST00000299481.4	+	12	3597	c.3251A>T	c.(3250-3252)gAa>gTa	p.E1084V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1084					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E1084V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCATAATGAAGAAGATGTG	0.363000													7	122					0	0	0.038147	0	0
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:21631013C>T	ENST00000328843.6	+	14	2516	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R829C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R829C(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAGTTGAGCGCACACAGAA	0.607000									Kartagener syndrome				14	93					0	0	0.119110	0	0
CCNO	10309	broad.mit.edu	37	5	54527229	54527229	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:54527229A>G	ENST00000282572.4	-	3	1183	c.1027T>C	c.(1027-1029)Tgc>Cgc	p.C343R		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	343					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity	p.C343R(1)		endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GGCAGGCTGCACTTCTCGCAG	0.567000													28	95					0	0	0.134883	0	0
ITIH2	3698	broad.mit.edu	37	10	7773794	7773794	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:7773794C>A	ENST00000358415.4	+	13	1648	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	ITIH2_ENST00000379587.4_Silent_p.S483S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	494					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S494S(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCAGGTCTCCACTCCATTGC	0.373000													16	173					1.96292e-10	2.3869e-10	0.055883	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768708	31768708	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:31768708T>G	ENST00000355459.2	+	1	317	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	102						intermediate filament		p.F102V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCTCTAGGCTTTGGATCCAG	0.597000													7	97					0	0	0.029380	0	0
MUSK	4593	broad.mit.edu	37	9	113563158	113563158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:113563158C>A	ENST00000416899.2	+	13	2602	c.2476C>A	c.(2476-2478)Ctc>Atc	p.L826I	MUSK_ENST00000374448.4_Missense_Mutation_p.L834I|MUSK_ENST00000189978.5_Missense_Mutation_p.L834I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	834	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L834I(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCTGTACAATCTCATGCGTCT	0.542000													21	61					7.4402e-23	1.16166e-22	0.091800	1	0
CREB3L2	64764	broad.mit.edu	37	7	137600584	137600584	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:137600584C>A	ENST00000330387.6	-	3	845	c.495_splice	c.e3+1	p.G165_splice	CREB3L2_ENST00000458726.1_Splice_Site_p.G102_splice|CREB3L2_ENST00000456390.1_Splice_Site_p.G165_splice|CREB3L2_ENST00000452463.1_Splice_Site_p.G165_splice	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	165					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G165V(2)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGCATACCCCAGTGTTCAT	0.458000			T	FUS	fibromyxoid sarcoma								27	82					3.73988e-18	5.42005e-18	0.116897	1	0
NUF2	83540	broad.mit.edu	37	1	163298635	163298635	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:163298635G>T	ENST00000271452.3	+	5	554		c.e5-1		NUF2_ENST00000367900.3_Splice_Site|NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000490881.1_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.?(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCATCTTCAAGGGACTCATTT	0.333000													17	137					1.01871e-10	1.24782e-10	0.204396	1	0
KLHL1	57626	broad.mit.edu	37	13	70314575	70314575	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:70314575T>A	ENST00000377844.4	-	8	2512	c.1753A>T	c.(1753-1755)Agt>Tgt	p.S585C	KLHL1_ENST00000545028.1_Missense_Mutation_p.S392C	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	585					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S585C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTGACATACTGGCTACAAAT	0.403000													12	75					0	0	0.105934	0	0
COL15A1	1306	broad.mit.edu	37	9	101817383	101817383	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:101817383G>T	ENST00000375001.3	+	33	3454		c.e33-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCTTTTTCAGGTCCTCCACT	0.353000													30	365					5.60225e-13	7.28915e-13	0.144211	1	0
EHD3	30845	broad.mit.edu	37	2	31483539	31483539	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:31483539C>A	ENST00000322054.5	+	4	951	c.666C>A	c.(664-666)gaC>gaA	p.D222E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	222					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.D222E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACAAAGCTGACCAGATCGAGA	0.552000													7	104					0.000157383	0.000166332	0.038147	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36276183	36276183	+	Missense_Mutation	SNP	G	G	A	rs139022184		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:36276183G>A	ENST00000007510.4	+	18	1958	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R605Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R469Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	605					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.R605Q(2)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGTGTCCCTCGAAAGAAGCCC	0.677000													29	63					0	0	0.183431	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509740	117509740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:117509740T>C	ENST00000393203.2	+	6	1994	c.1847T>C	c.(1846-1848)cTg>cCg	p.L616P	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	616	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.L616P(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGTGAAGCTGGAGAATTGG	0.498000													22	151					0	0	0.069288	0	0
CUBN	8029	broad.mit.edu	37	10	17169921	17169921	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:17169921G>A	ENST00000377833.4	-	3	320	c.255C>T	c.(253-255)atC>atT	p.I85I	CUBN_ENST00000377823.1_Silent_p.I85I	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	85					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTTTTCTGGATCTAATTTT	0.284000													13	122					0	0	0.093190	0	0
SMC4	10051	broad.mit.edu	37	3	160120494	160120494	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:160120494A>T	ENST00000357388.3	+	4	800	c.349A>T	c.(349-351)Agt>Tgt	p.S117C	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.S117C|SMC4_ENST00000344722.5_Missense_Mutation_p.S117C|SMC4_ENST00000462787.1_Missense_Mutation_p.S117C|SMC4_ENST00000469762.1_Missense_Mutation_p.S92C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	117					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.S117C(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCCAAATGGCAGTGGCAAATC	0.323000													75	159					0	0	0.139131	0	0
AFF2	2334	broad.mit.edu	37	X	147743879	147743879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:147743879G>T	ENST00000370460.2	+	3	1110	c.631G>T	c.(631-633)Gag>Tag	p.E211*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.E207*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.E207*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.E207*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	211					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E211*(4)|p.E211K(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTTGAAGAGTCAAACCC	0.433000													126	146					8.89058e-54	1.7095e-53	0.139131	1	0
EPHA7	2045	broad.mit.edu	37	6	93964397	93964397	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:93964397C>T	ENST00000369303.4	-	14	2684	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	834	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E834K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAGGTCTTTCTCCATAAGAC	0.398000													28	70					0	0	0.173368	0	0
GLDC	2731	broad.mit.edu	37	9	6534776	6534776	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:6534776A>G	ENST00000321612.6	-	24	3001	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	951					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.S951P(2)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGGTCAGGGAGTGTGGAGAC	0.537000													6	60					0	0	0.021553	0	0
HCN1	348980	broad.mit.edu	37	5	45645683	45645683	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:45645683T>G	ENST00000303230.4	-	2	510	c.453A>C	c.(451-453)atA>atC	p.I151I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	151						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAACCATCATTATAAGCATTA	0.318000													5	175					0	0	0.184627	0	0
SEC13	6396	broad.mit.edu	37	3	10354321	10354321	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:10354321C>G	ENST00000397117.1	-	4	807	c.216G>C	c.(214-216)tgG>tgC	p.W72C	SEC13_ENST00000397109.3_Missense_Mutation_p.W72C|SEC13_ENST00000383801.2_Missense_Mutation_p.W132C|SEC13_ENST00000350697.3_Missense_Mutation_p.W86C|SEC13_ENST00000337354.4_Missense_Mutation_p.W89C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	86					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding	p.W86C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTTCCTCTCTCCAGATAATGA	0.582000													66	174					0	0	0.139131	0	0
STPG2	285555	broad.mit.edu	37	4	98865110	98865110	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:98865110A>G	ENST00000295268.3	-	8	1071	c.982T>C	c.(982-984)Ttg>Ctg	p.L328L		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.L328L(1)									TTGTTAGTCAAGTTAGGTAAT	0.318000													11	259					0	0	0.093190	0	0
PLCE1	51196	broad.mit.edu	37	10	96005857	96005857	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:96005857C>A	ENST00000260766.3	+	8	3209	c.2575C>A	c.(2575-2577)Cag>Aag	p.Q859K	PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551K|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551K|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGATGTGCACCAGTTCCTGCT	0.582000													34	64					3.54909e-21	5.4044e-21	0.124865	1	0
CNTN4	152330	broad.mit.edu	37	3	2908612	2908612	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:2908612C>A	ENST00000397461.1	+	7	1015	c.631C>A	c.(631-633)Cca>Aca	p.P211T	CNTN4_ENST00000418658.1_Missense_Mutation_p.P211T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P211T|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	211					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P211T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCACCTACACCACTAATATT	0.383000													38	71					3.78316e-11	4.68791e-11	0.086207	1	0
KCNA4	3739	broad.mit.edu	37	11	30032330	30032330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:30032330C>A	ENST00000328224.6	-	2	3129	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	632						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGTCATCCCCCTTTCCCTGAC	0.483000													41	119					5.44703e-19	8.01315e-19	0.111260	1	0
OR1J4	26219	broad.mit.edu	37	9	125281931	125281931	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:125281931A>T	ENST00000340750.1	+	1	512	c.512A>T	c.(511-513)gAc>gTc	p.D171V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D171V(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTTGTGCTGACAACACCATC	0.512000													16	127					0	0	0.160694	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486484	76486484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:76486484C>G	ENST00000307431.8	+	9	1533	c.1148C>G	c.(1147-1149)cCa>cGa	p.P383R	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P387R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P311R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P335R|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	384					cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.P311R(2)|p.P383R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGCACTGCCAGACTTCTCT	0.433000													38	149					0	0	0.080422	0	0
THSD7A	221981	broad.mit.edu	37	7	11582602	11582602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:11582602C>A	ENST00000423059.3	-	5	1847	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	532	TSP type-1 5.					integral to membrane		p.Q532H(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTTCCCTTGCTGATCATTAC	0.388000										HNSCC(18;0.044)			25	60					7.07758e-08	8.07782e-08	0.099896	1	0
TRIM55	84675	broad.mit.edu	37	8	67064863	67064863	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:67064863G>T	ENST00000315962.4	+	8	1609		c.e8+1		TRIM55_ENST00000276573.7_Splice_Site|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Splice_Site	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGTGACACAGGTAACCCCTCC	0.542000													28	135					1.75199e-13	2.2974e-13	0.125774	1	0
INTS5	80789	broad.mit.edu	37	11	62415826	62415826	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:62415826G>A	ENST00000330574.2	-	2	1778	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	576					snRNA processing	integral to membrane|integrator complex	protein binding	p.R576C(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCCAAGTTGCGCAGGAACCGG	0.637000													13	133					0	0	0.093190	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936027	94936027	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:94936027A>T	ENST00000337425.5	-	2	279	c.205T>A	c.(205-207)Ttt>Att	p.F69I	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.F69I|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.F51I|SERPINA9_ENST00000448305.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	51					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.F69I(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CGGAAGGCAAAGTCGGTGTTG	0.582000													31	84					0	0	0.203993	0	0
COL3A1	1281	broad.mit.edu	37	2	189849689	189849689	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:189849689G>T	ENST00000304636.3	+	2	452		c.e2+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.?(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAACTGCTGTGAGTTTAAA	0.388000													24	49					3.5997e-14	4.80644e-14	0.069288	1	0
OBSCN	84033	broad.mit.edu	37	1	228464950	228464950	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:228464950G>C	ENST00000570156.2	+	28	7889	c.7815G>C	c.(7813-7815)gcG>gcC	p.A2605A	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.A2230A|OBSCN_ENST00000284548.11_Silent_p.A2230A|OBSCN_ENST00000359599.6_Silent_p.A1077A|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1599	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A2230A(2)|p.A2414A(1)|p.A2513A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAGTTCGCGGATCAGGGAG	0.642000													10	30					0	0	0.069234	0	0
DACH2	117154	broad.mit.edu	37	X	85404014	85404014	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:85404014C>A	ENST00000373131.1	+	1	553	c.390C>A	c.(388-390)atC>atA	p.I130I	DACH2_ENST00000373125.4_Silent_p.I130I	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	130	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.I130I(4)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGTCCGGATCCTCCGCGGGC	0.552000													32	51					2.42023e-17	3.43526e-17	0.183431	1	0
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:11187673G>T	ENST00000337414.4	-	9	2633	c.1761C>A	c.(1759-1761)atC>atA	p.I587I	ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000380736.1_Silent_p.I384I|ARHGAP6_ENST00000303025.6_Silent_p.I384I|ARHGAP6_ENST00000413512.3_Silent_p.I396I|ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	587	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.I587I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493000													42	72					1.76056e-25	2.8436e-25	0.124865	1	0
LBP	3929	broad.mit.edu	37	20	36993349	36993349	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:36993349G>T	ENST00000217407.2	+	8	1025	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	288					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T288T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTTCAACACGGCCAGCCTGG	0.473000													80	178					3.1371e-51	5.96355e-51	0.139131	1	0
MYOM3	127294	broad.mit.edu	37	1	24388533	24388533	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:24388533G>A	ENST00000330966.7	-	33	4008	c.3846C>T	c.(3844-3846)caC>caT	p.H1282H	MYOM3_ENST00000374434.3_Silent_p.H1279H|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Silent_p.H172H			Q5VTT5	MYOM3_HUMAN	myomesin 3	1279								p.H1279H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGTCCAGGATGTGAAGCCAGA	0.532000													50	417					0	0	0.139131	0	0
CD163	9332	broad.mit.edu	37	12	7636091	7636091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:7636091C>A	ENST00000359156.4	-	12	3162	c.2960G>T	c.(2959-2961)gGg>gTg	p.G987V	CD163_ENST00000396620.3_Missense_Mutation_p.G1020V|CD163_ENST00000541972.1_Missense_Mutation_p.G975V|CD163_ENST00000432237.2_Missense_Mutation_p.G987V|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	987	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G987L(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CGGTCCAGTCCCCTGACCAAA	0.517000													28	115					2.48779e-11	3.1124e-11	0.108266	1	0
COL4A2	1284	broad.mit.edu	37	13	111158944	111158944	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:111158944C>A	ENST00000360467.5	+	46	4891	c.4585C>A	c.(4585-4587)Cag>Aag	p.Q1529K	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1529	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q1529K(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCGCACAACCAGGACCTGGG	0.632000													4	14					0.014758	0.0150144	0.184627	1	0
ALPK2	115701	broad.mit.edu	37	18	56203934	56203934	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:56203934G>T	ENST00000361673.3	-	5	3698	c.3485C>A	c.(3484-3486)gCt>gAt	p.A1162D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1162							ATP binding|protein serine/threonine kinase activity	p.A523D(2)|p.A1162D(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGTGCAGCAGATGTCGT	0.577000													49	196					5.82089e-37	1.06007e-36	0.139131	1	0
DENND4B	9909	broad.mit.edu	37	1	153905198	153905198	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:153905198C>G	ENST00000361217.4	-	23	4097	c.3679G>C	c.(3679-3681)Ggt>Cgt	p.G1227R	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1227								p.G1227R(1)|p.G1115R(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGGACCACCAGGGACAGGA	0.627000													11	128					0	0	0.069234	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783353	140783353	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140783353A>T	ENST00000573521.1	+	1	834	c.834A>T	c.(832-834)gcA>gcT	p.A278A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCT	0.418000													35	118					0	0	0.173368	0	0
MUC16	94025	broad.mit.edu	37	19	9047921	9047921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:9047921G>T	ENST00000397910.4	-	5	33913	c.33710C>A	c.(33709-33711)tCa>tAa	p.S11237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11239	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6870*(2)|p.S11237*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCGACCCATGAGTCTATGGT	0.483000													13	25					4.3838e-07	4.90768e-07	0.105934	1	0
SSFA2	6744	broad.mit.edu	37	2	182784139	182784139	+	Missense_Mutation	SNP	G	G	T	rs150716378	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:182784139G>T	ENST00000431877.2	+	14	3289	c.3110G>T	c.(3109-3111)cGc>cTc	p.R1037L	SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000428267.2_Missense_Mutation_p.R884L|SSFA2_ENST00000409136.1_Missense_Mutation_p.R546L|SSFA2_ENST00000409001.1_Missense_Mutation_p.R1037L|SSFA2_ENST00000320370.7_Missense_Mutation_p.R1037L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1037						cytoplasm|plasma membrane	actin binding	p.R1037L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CGTGCTGTGCGCATGCCTTCA	0.532000													8	352					3.09899e-07	3.48599e-07	0.047766	1	0
ADCY5	111	broad.mit.edu	37	3	123046503	123046503	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:123046503T>A	ENST00000462833.1	-	7	3121	c.1909A>T	c.(1909-1911)Atc>Ttc	p.I637F	ADCY5_ENST00000309879.5_Missense_Mutation_p.I287F|ADCY5_ENST00000491190.1_Missense_Mutation_p.I270F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	637					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I637F(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGGTCTCGATACTGTGCTCC	0.622000													15	49					0	0	0.160694	0	0
COL5A1	1289	broad.mit.edu	37	9	137646119	137646119	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:137646119G>T	ENST00000371817.3	+	16	2188	c.1773_splice	c.e16-1	p.G592_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	592	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G592C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCTGGCAGGGTCCTCGAGG	0.627000													45	80					3.10996e-30	5.36343e-30	0.139131	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147259322	147259322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:147259322C>A	ENST00000361727.3	+	12	2386	c.1870C>A	c.(1870-1872)Cct>Act	p.P624T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	624	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P624T(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCTCTGGGGCCTCTGAAAGT	0.413000										HNSCC(39;0.1)			75	153					1.86864e-30	3.23217e-30	0.139131	1	0
TRIML1	339976	broad.mit.edu	37	4	189068505	189068505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:189068505C>A	ENST00000332517.3	+	6	1526	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.C462*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCACCATCTGCTCACTGAACA	0.562000													23	119					4.59853e-10	5.5343e-10	0.108266	1	0
WDR36	134430	broad.mit.edu	37	5	110446486	110446486	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:110446486G>T	ENST00000506538.2	+	14	2182		c.e14-1		WDR36_ENST00000505303.1_Splice_Site|WDR36_ENST00000513710.2_Splice_Site	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36						response to stimulus|rRNA processing|visual perception	small-subunit processome		p.?(2)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTACCTTACAGCTCACAAGGG	0.373000													20	43					1.56452e-12	2.00006e-12	0.189662	1	0
NCOA2	10499	broad.mit.edu	37	8	71056877	71056877	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:71056877C>G	ENST00000452400.2	-	13	2993	c.2812_splice	c.e13+1	p.G938_splice	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	938					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	p.G938R(2)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCCTTACCTGTGCTACTG	0.363000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								18	102					0	0	0.175082	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500307	48500307	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:48500307C>A	ENST00000396577.3	+	2	606	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	SLC12A1_ENST00000380993.3_Missense_Mutation_p.L131M|SLC12A1_ENST00000558405.1_Missense_Mutation_p.L131M|SLC12A1_ENST00000330289.6_Missense_Mutation_p.L131M|SLC12A1_ENST00000561031.1_Missense_Mutation_p.L131M	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	131					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.L131M(4)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGACCCAGCCTGCTTGAGAT	0.468000													34	108					2.40579e-17	3.41891e-17	0.086207	1	0
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:131797656G>T	ENST00000286355.5	-	16	5218	c.3126C>A	c.(3124-3126)gcC>gcA	p.A1042A	ADCY8_ENST00000377928.3_Silent_p.A911A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCTGACACGGCCATGTAGG	0.498000										HNSCC(32;0.087)			38	178					7.53189e-24	1.19348e-23	0.098360	1	0
CUX2	23316	broad.mit.edu	37	12	111758230	111758230	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:111758230C>T	ENST00000261726.6	+	17	2571	c.2417C>T	c.(2416-2418)tCg>tTg	p.S806L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	806	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGTCGCCCTCGCTGTCCTCC	0.741000													5	55					0	0	0.047766	0	0
TEX13B	56156	broad.mit.edu	37	X	107224574	107224574	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:107224574G>A	ENST00000302917.1	-	3	767	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	225								p.L225L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAATAGCTCCGAGGGGCTGCC	0.592000													37	233					0	0	0.193644	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634713	206634713	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:206634713G>T	ENST00000414007.1	+	19	2744	c.2744G>T	c.(2743-2745)gGt>gTt	p.G915V				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1055					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.G915V(2)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAGCCCTGGTGTCAACTCA	0.502000													73	224					2.49587e-40	4.61716e-40	0.139131	1	0
NOBOX	135935	broad.mit.edu	37	7	144097391	144097391	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:144097391G>A	ENST00000467773.1	-	5	858	c.859C>T	c.(859-861)Cta>Tta	p.L287L	NOBOX_ENST00000223140.5_Silent_p.L202L|NOBOX_ENST00000483238.1_Silent_p.L287L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	287					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.L287L(4)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCTCTAGCTCCTCCAGC	0.507000													32	67					0	0	0.153744	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255192	140255192	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140255192G>T	ENST00000398631.2	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.V45V(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTTCGTGGGCCGCATCG	0.657000													41	79					1.05386e-31	1.84189e-31	0.139131	1	0
C3	718	broad.mit.edu	37	19	6692943	6692943	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:6692943C>G	ENST00000245907.6	-	26	3474	c.3382G>C	c.(3382-3384)Gaa>Caa	p.E1128Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1128					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACAATCATTTCTTGGTGTATC	0.562000													7	345					0	0	0.029380	0	0
SNIP1	79753	broad.mit.edu	37	1	38005774	38005774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:38005774C>A	ENST00000296215.6	-	3	982	c.910G>T	c.(910-912)Gcg>Tcg	p.A304S		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	304	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A304S(2)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGAAAGACCGCATGCTGCTTT	0.428000													40	213					7.05121e-23	1.1024e-22	0.117977	1	0
MUC17	140453	broad.mit.edu	37	7	100678604	100678604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:100678604G>T	ENST00000306151.4	+	3	3971	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1303	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V1303F(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACACTAA	0.458000													141	331					7.00697e-89	1.38601e-88	0.139131	1	0
ARFIP1	27236	broad.mit.edu	37	4	153802270	153802270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:153802270G>T	ENST00000451320.2	+	6	731	c.567G>T	c.(565-567)atG>atT	p.M189I	ARFIP1_ENST00000353617.2_Missense_Mutation_p.M189I|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000405727.2_Missense_Mutation_p.M157I|ARFIP1_ENST00000356064.3_Missense_Mutation_p.M157I|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	189	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.M189I(4)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTTCCAGATGGTACATACCC	0.348000													38	170					3.54561e-26	5.79066e-26	0.111260	1	0
PACS1	55690	broad.mit.edu	37	11	66001697	66001697	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:66001697G>A	ENST00000320580.4	+	17	2121	c.2088G>A	c.(2086-2088)tcG>tcA	p.S696S	PACS1_ENST00000529757.1_Silent_p.S232S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	696					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.S696S(2)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAGTCGCTCGGAGCCACCAG	0.567000													25	179					0	0	0.091800	0	0
RLTPR	146206	broad.mit.edu	37	16	67680671	67680671	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:67680671G>A	ENST00000334583.6	+	7	849	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	RLTPR_ENST00000545661.1_Missense_Mutation_p.R174Q	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	174								p.R214Q(1)|p.R174Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TTCCCTTTCCGAGAGGAGATT	0.577000													23	192					0	0	0.083992	0	0
MICAL3	57553	broad.mit.edu	37	22	18301457	18301457	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:18301457C>A	ENST00000441493.2	-	26	4322	c.3970G>T	c.(3970-3972)Gtg>Ttg	p.V1324L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1324	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.V1324L(2)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AACTCCTCCACCAGGTCGCTC	0.662000													65	96					5.10652e-33	9.08775e-33	0.139131	1	0
ADAM21	8747	broad.mit.edu	37	14	70924409	70924409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:70924409C>A	ENST00000603540.1	+	2	451	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	ADAM21_ENST00000267499.3_Missense_Mutation_p.L65M|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	65					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCCTATAGTCTGCGGTTTGG	0.537000													11	426					1.5739e-10	1.92383e-10	0.146539	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124423	142124423	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142124423C>A	ENST00000390376.2	-	0	54																											CCAGCATTCACTGGACCTGCA	0.547000													66	101					9.53695e-23	1.48705e-22	0.139131	1	0
ATXN1	6310	broad.mit.edu	37	6	16328052	16328052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:16328052C>A	ENST00000244769.4	-	8	1426	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ATXN1_ENST00000436367.1_Missense_Mutation_p.G164W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	164					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.G164W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGTGGCCCCTGCGGCCGAG	0.637000													31	64					2.54651e-27	4.22374e-27	0.092188	1	0
VPS16	64601	broad.mit.edu	37	20	2840774	2840774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:2840774G>T	ENST00000380445.3	+	3	289	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	VPS16_ENST00000380469.3_Missense_Mutation_p.G73C	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	73					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.G73C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCTGCTTCCGGCATGCCTCT	0.577000													74	163					3.4779e-39	6.40349e-39	0.139131	1	0
TGM4	7047	broad.mit.edu	37	3	44951851	44951851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:44951851C>A	ENST00000296125.4	+	11	1665	c.1597C>A	c.(1597-1599)Caa>Aaa	p.Q533K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	533					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q533K(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCGCAGATCCAAGGTCAAGG	0.498000													30	53					3.17567e-06	3.49503e-06	0.134883	1	0
ITIH2	3698	broad.mit.edu	37	10	7763676	7763676	+	Missense_Mutation	SNP	C	C	T	rs141514196		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:7763676C>T	ENST00000358415.4	+	8	969	c.803C>T	c.(802-804)gCg>gTg	p.A268V	ITIH2_ENST00000379587.4_Missense_Mutation_p.A257V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A268V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGGAGACTGCGGTAGATGGG	0.552000													31	220					0	0	0.173368	0	0
ETNPPL	64850	broad.mit.edu	37	4	109670480	109670480	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:109670480C>T	ENST00000296486.3	-	8	995	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	ETNPPL_ENST00000510706.1_Missense_Mutation_p.G241S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G223S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.G275S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.G281S(2)									TGGCCGTTGCCCATCGGTTTT	0.468000													60	185					0	0	0.139131	0	0
ALK	238	broad.mit.edu	37	2	29551271	29551271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:29551271C>A	ENST00000389048.3	-	6	2265	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	453	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.Q453H(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTCACAGGCCTGCCCAAGCT	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	136					3.62473e-10	4.38035e-10	0.062417	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144863409	144863409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:144863409C>A	ENST00000369359.4	-	40	6440	c.6402G>T	c.(6400-6402)caG>caT	p.Q2134H	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1892H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1998H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q1998H|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2083H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1998					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCTTCACACTGTTGCTGCA	0.522000			T	PDGFRB	MPD								10	454					0.00829132	0.00849443	0.069234	1	0
PCDHA13	56136	broad.mit.edu	37	5	140264058	140264058	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140264058C>A	ENST00000289272.2	+	1	2205	c.2205C>A	c.(2203-2205)ggC>ggA	p.G735G	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G735G|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.G735G(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCGGGCAAGCCCACTC	0.687000													15	116					1.64113e-05	1.77613e-05	0.055883	1	0
CACNA1E	777	broad.mit.edu	37	1	181689959	181689959	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:181689959A>C	ENST00000526775.1	+	15	2089	c.1924A>C	c.(1924-1926)Acc>Ccc	p.T642P	CACNA1E_ENST00000357570.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T249P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T642P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T593P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T642P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T642P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	642					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T642P(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAATTTTGATACCTTCCCTGC	0.428000													16	30					0	0	0.062417	0	0
EPHA6	285220	broad.mit.edu	37	3	96706434	96706434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:96706434C>A	ENST00000389672.5	+	3	749	c.711C>A	c.(709-711)aaC>aaA	p.N237K	EPHA6_ENST00000542517.1_Missense_Mutation_p.N143K|EPHA6_ENST00000470610.2_Missense_Mutation_p.N237K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	142						integral to plasma membrane	ATP binding|ephrin receptor activity	p.N143K(4)|p.N237K(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCAAGCCAAACCAGTATACAA	0.413000													97	342					9.27813e-46	1.75237e-45	0.139131	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222743	140222743	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140222743C>A	ENST00000531613.1	+	1	1837	c.1837C>A	c.(1837-1839)Cca>Aca	p.P613T	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P613T|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1												p.P613T(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCTGCAGCCAGCTGCAAG	0.687000													50	39					1.51926e-22	2.35324e-22	0.139131	1	0
BRINP3	339479	broad.mit.edu	37	1	190250721	190250721	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:190250721C>A	ENST00000367462.3	-	3	627	c.396G>T	c.(394-396)ggG>ggT	p.G132G	FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		132						extracellular region		p.G132G(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAAATGTGTCCCATATTTCT	0.453000													32	206					1.21669e-08	1.42048e-08	0.183431	1	0
APOBEC4	403314	broad.mit.edu	37	1	183617876	183617876	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:183617876G>A	ENST00000308641.4	-	2	312	c.41C>T	c.(40-42)aCa>aTa	p.T14I	RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	14					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.T14I(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTTACTATTGTTCCATGATT	0.378000													35	153					0	0	0.173368	0	0
OGN	4969	broad.mit.edu	37	9	95165621	95165621	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:95165621G>T	ENST00000262551.4	-	2	489	c.69C>A	c.(67-69)acC>acA	p.T23T	OGN_ENST00000375561.5_Silent_p.T23T|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	23						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGTCCTGCTGGGTTGGTGGTG	0.383000													21	66					1.9806e-07	2.24302e-07	0.069288	1	0
KRT37	8688	broad.mit.edu	37	17	39578550	39578550	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:39578550T>G	ENST00000225550.3	-	4	868	c.869A>C	c.(868-870)gAt>gCt	p.D290A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	290	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CTGTTCCACATCCTGGTGGTT	0.587000													9	335					0	0	0.058154	0	0
WDR65	149465	broad.mit.edu	37	1	43638557	43638557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:43638557C>A	ENST00000372492.4	+	2	457	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	WDR65_ENST00000528956.1_Missense_Mutation_p.Q45K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	45								p.Q45K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAATGTGGATCAGAAATGGCA	0.383000													40	110					3.3946e-10	4.11499e-10	0.080422	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606150	1606150	+	Silent	SNP	G	G	A	rs148824156	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:1606150G>A	ENST00000382171.2	-	1	363	c.330C>T	c.(328-330)ggC>ggT	p.G110G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667000													4	39					0	0	0.132662	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139003	64139003	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:64139003A>T	ENST00000545618.1	-	5	1028	c.465T>A	c.(463-465)gcT>gcA	p.A155A	ZC4H2_ENST00000337990.2_Silent_p.A137A|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Silent_p.A160A			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	160							metal ion binding|protein binding	p.A160A(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTTGGGCGGCAGCGGCTGCAG	0.582000													15	21					0	0	0.080422	0	0
GRM8	2918	broad.mit.edu	37	7	126173340	126173340	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:126173340G>T	ENST00000339582.2	-	9	2904	c.2096C>A	c.(2095-2097)aCc>aAc	p.T699N	GRM8_ENST00000444921.2_Missense_Mutation_p.T699N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.T699N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	699					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T699N(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGGCTGAAGGTGATCACCAG	0.498000										HNSCC(24;0.065)			34	68					6.84511e-11	8.42863e-11	0.183431	1	0
TRPM4	54795	broad.mit.edu	37	19	49704042	49704042	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:49704042G>T	ENST00000252826.5	+	19	3079	c.2953_splice	c.e19+1	p.V985_splice	TRPM4_ENST00000355712.5_Splice_Site_p.V631_splice|TRPM4_ENST00000427978.2_Splice_Site_p.V840_splice	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	985					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.V985L(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGACATGGACGGTAGGGGGGA	0.592000													15	63					4.7546e-09	5.59562e-09	0.146539	1	0
CHD6	84181	broad.mit.edu	37	20	40081428	40081428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:40081428T>A	ENST00000373233.3	-	21	3452	c.3275A>T	c.(3274-3276)tAc>tTc	p.Y1092F	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1092					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.Y1092F(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGCTCGGAGGTAGCGCCTGGC	0.517000													8	222					0	0	0.058154	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476788	102476788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:102476788G>T	ENST00000360184.4	+	31	6561	c.6397G>T	c.(6397-6399)Gaa>Taa	p.E2133*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2133					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.E2133*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAATCTCCCTGAACAAGAGGT	0.388000													24	59					6.12954e-19	8.98334e-19	0.099896	1	0
VPS25	84313	broad.mit.edu	37	17	40931001	40931001	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:40931001C>G	ENST00000253794.2	+	6	485	c.445C>G	c.(445-447)Cta>Gta	p.L149V		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	149					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGAAGCCACTCTACTGCGGGC	0.592000													5	76					0	0	0.184627	0	0
EXT2	2132	broad.mit.edu	37	11	44228501	44228501	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:44228501G>T	ENST00000395673.3	+	10	1809	c.1753G>T	c.(1753-1755)Ggt>Tgt	p.G585C	EXT2_ENST00000343631.3_Missense_Mutation_p.G552C|EXT2_ENST00000533608.1_Missense_Mutation_p.G552C|EXT2_ENST00000358681.4_Missense_Mutation_p.G562C	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGCAATTTGGTTATGAGGT	0.353000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				44	186					1.89013e-27	3.13949e-27	0.139131	1	0
DDC	1644	broad.mit.edu	37	7	50596906	50596906	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:50596906C>A	ENST00000444124.2	-	5	770	c.570_splice	c.e5+1	p.Q190_splice	DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Splice_Site_p.Q190_splice|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Splice_Site_p.Q112_splice|DDC_ENST00000380984.4_Splice_Site_p.Q190_splice	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	190					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Q190H(4)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACACACTCACCTGATCGGATG	0.512000													108	209					1.14919e-56	2.22799e-56	0.139131	1	0
TH	7054	broad.mit.edu	37	11	2185532	2185532	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:2185532C>A	ENST00000381178.1	-	14	1536	c.1518G>T	c.(1516-1518)gtG>gtT	p.V506V	TH_ENST00000333684.5_Silent_p.V385V|TH_ENST00000381175.1_Silent_p.V502V|TH_ENST00000352909.3_Silent_p.V475V	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	506					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.V506V(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GGGAGCGCCGCACGGCCTGGG	0.667000													26	57					1.77063e-15	2.42788e-15	0.108266	1	0
FGB	2244	broad.mit.edu	37	4	155490753	155490753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:155490753G>A	ENST00000302068.4	+	7	1109	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.G130E	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	349	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G349E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GACTGGAAAGGAGACAAAGTA	0.413000													19	172					0	0	0.189662	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168740	32168740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:32168740C>A	ENST00000375023.3	-	23	4321	c.4183G>T	c.(4183-4185)Gac>Tac	p.D1395Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1395					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1395Y(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCGGGTGGTCAGGGCCACAG	0.637000													27	57					1.16021e-09	1.39059e-09	0.125774	1	0
NCKAP5	344148	broad.mit.edu	37	2	133554252	133554252	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:133554252C>A	ENST00000409261.1	-	12	1231	c.858G>T	c.(856-858)gaG>gaT	p.E286D	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E286D|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E286D|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E286D	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	286							protein binding	p.E286D(1)|p.E125D(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTTTCCACCTCTGAAAGCA	0.408000													3	40					0.150653	0.151559	0.150653	1	0
OTOA	146183	broad.mit.edu	37	16	21737980	21737980	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:21737980G>T	ENST00000388958.3	+	18	2017		c.e18+1		OTOA_ENST00000388957.3_Splice_Site|OTOA_ENST00000388956.4_Splice_Site|OTOA_ENST00000286149.4_Splice_Site	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin						sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCAGTGCCTGGTAAGAAAACT	0.537000													30	154					4.4194e-11	5.45899e-11	0.173368	1	0
CCDC171	203238	broad.mit.edu	37	9	15745522	15745522	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:15745522A>C	ENST00000380701.3	+	18	2892	c.2564A>C	c.(2563-2565)aAg>aCg	p.K855T	CCDC171_ENST00000297641.3_Missense_Mutation_p.K855T	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	855								p.K855T(2)|p.K122T(2)									GAACATCAAAAGGAGCAGTTG	0.333000													95	257					0	0	0.139131	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906614	84906614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:84906614G>C	ENST00000262424.5	+	10	1222	c.998G>C	c.(997-999)cGc>cCc	p.R333P	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R333P|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R332P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	333	LCCL 1.					extracellular region|transport vesicle		p.R333P(2)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGCATATGCCGCGCCGCCATC	0.547000													27	180					0	0	0.116897	0	0
SDK1	221935	broad.mit.edu	37	7	4153708	4153708	+	Missense_Mutation	SNP	G	G	T	rs142268038		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:4153708G>T	ENST00000404826.2	+	25	3764	c.3625G>T	c.(3625-3627)Gtg>Ttg	p.V1209L	SDK1_ENST00000389531.3_Missense_Mutation_p.V1209L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1209	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.V1209L(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCGAGTCCGTGGGCTACAG	0.587000													17	159					1.99824e-07	2.25645e-07	0.160694	1	0
CLASP1	23332	broad.mit.edu	37	2	122106236	122106236	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:122106236T>A	ENST00000263710.4	-	38	4654	c.4265A>T	c.(4264-4266)cAg>cTg	p.Q1422L	CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1361L|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q1129L|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q1139L|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1378L|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1355L|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1362L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1422	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.Q1422L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATGCACTGCTCCGGGTG	0.587000													11	32					0	0	0.105934	0	0
NAGPA	51172	broad.mit.edu	37	16	5078049	5078049	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:5078049C>A	ENST00000312251.3	-	6	1077	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.R353L	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	353					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.R353L(2)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCCGGGACCCCGCCAGAAGTG	0.687000													12	48					0.000958276	0.00100191	0.189662	1	0
ASTL	431705	broad.mit.edu	37	2	96801117	96801117	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:96801117G>C	ENST00000342380.2	-	3	215	c.216C>G	c.(214-216)ttC>ttG	p.F72L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	72					proteolysis		metalloendopeptidase activity|zinc ion binding	p.F72L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCGATGAGGAAGCTGCTCT	0.607000													12	70					0	0	0.080935	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773147	140773147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140773147C>A	ENST00000398604.2	+	1	767	c.767C>A	c.(766-768)cCc>cAc	p.P256H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1												p.P256H(2)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACATGCCCCCAGGCACG	0.488000													33	127					5.8336e-16	8.06511e-16	0.183431	1	0
ZNF536	9745	broad.mit.edu	37	19	31039347	31039347	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:31039347C>A	ENST00000355537.3	+	4	2968	c.2821C>A	c.(2821-2823)Ctg>Atg	p.L941M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACAAAGCCCTGGCTGACCC	0.512000													17	425					3.32936e-07	3.73437e-07	0.175082	1	0
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:203452395C>A	ENST00000343110.2	+	2	210	c.83C>A	c.(82-84)cCc>cAc	p.P28H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P28H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGACCAAGACCCGGGACTGGG	0.647000													77	162					9.4237e-28	1.58324e-27	0.139131	1	0
IGKV1-33	28933	broad.mit.edu	37	2	89568195	89568195	+	RNA	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:89568195A>T	ENST00000473726.1	-	0	68																											CCAGAGCAGCAGGAGCCCCAG	0.527000													9	144					0	0	0.119110	0	0
GALC	2581	broad.mit.edu	37	14	88407816	88407816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:88407816C>A	ENST00000261304.2	-	15	1863	c.1757G>T	c.(1756-1758)gGt>gTt	p.G586V	GALC_ENST00000544807.2_Missense_Mutation_p.G530V|GALC_ENST00000393569.2_Missense_Mutation_p.G560V|GALC_ENST00000393568.4_Missense_Mutation_p.G563V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	586					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.G586V(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATCAAAATACCACCTTTATT	0.358000													42	347					6.21074e-16	8.56629e-16	0.124865	1	0
CSMD3	114788	broad.mit.edu	37	8	113246706	113246706	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113246706C>A	ENST00000297405.5	-	68	10872	c.10627_splice	c.e68-1	p.G3543_splice	CSMD3_ENST00000343508.3_Splice_Site_p.G3503_splice|CSMD3_ENST00000352409.3_Splice_Site_p.G3473_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G3374_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3543						integral to membrane|plasma membrane		p.G3503V(2)|p.G3543V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTATATACCCCTGTAAAATG	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	297					5.61819e-17	7.94553e-17	0.108266	1	0
PLCB1	23236	broad.mit.edu	37	20	8770894	8770894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:8770894G>T	ENST00000378641.3	+	31	3884	c.3409G>T	c.(3409-3411)Gat>Tat	p.D1137Y	PLCB1_ENST00000338037.6_Missense_Mutation_p.D1137Y|PLCB1_ENST00000378637.2_Missense_Mutation_p.D1137Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1137					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAGATCCTGGATGAAAAGCC	0.343000													8	22					0.000274275	0.000288827	0.047766	1	0
REG3A	5068	broad.mit.edu	37	2	79384784	79384784	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:79384784C>A	ENST00000393878.1	-	4	628	c.374G>T	c.(373-375)aGt>aTt	p.S125I	REG3A_ENST00000409839.3_Missense_Mutation_p.S125I|REG3A_ENST00000305165.2_Missense_Mutation_p.S125I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S125I(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATCACATCACTGCTACTCCA	0.542000													54	160					1.0331e-37	1.89024e-37	0.139131	1	0
OR4B1	119765	broad.mit.edu	37	11	48238932	48238932	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:48238932T>C	ENST00000309562.2	+	1	589	c.571T>C	c.(571-573)Ttc>Ctc	p.F191L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F191L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGACACCTTCATGGAGGG	0.453000													9	197					0	0	0.058154	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688809	65688809	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:65688809C>A	ENST00000335257.6	+	9	1151	c.804C>A	c.(802-804)gtC>gtA	p.V268V	PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Silent_p.V268V|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CTTCTTCCGTCCGCAGTGCGC	0.552000													11	225					1.58986e-06	1.75801e-06	0.069234	1	0
RALGPS2	55103	broad.mit.edu	37	1	178854255	178854255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:178854255G>T	ENST00000367635.3	+	12	1287	c.949G>T	c.(949-951)Gca>Tca	p.A317S	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.A282S|RALGPS2_ENST00000367634.2_Missense_Mutation_p.A317S	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	317					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.A317S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAAAGTGTGGCAGCTGAAGG	0.448000													36	80					4.65686e-17	6.59394e-17	0.193644	1	0
EIF4A2	1974	broad.mit.edu	37	3	186505350	186505350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:186505350G>T	ENST00000323963.5	+	9	1040	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	EIF4A2_ENST00000356531.5_Missense_Mutation_p.V231F|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V327F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	326	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.V326F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTCAAGTCGTGTTCTGATCAC	0.398000			T	BCL6	NHL								90	203					6.07207e-39	1.11448e-38	0.139131	1	0
STK32C	282974	broad.mit.edu	37	10	134040418	134040418	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:134040418G>T	ENST00000368622.1	-	4	555	c.174C>A	c.(172-174)ggC>ggA	p.G58G	STK32C_ENST00000368625.4_Silent_p.G188G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	175							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G188G(2)|p.G175G(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAGGTCCCCGCCCAGTAGCA	0.627000													31	54					1.61788e-16	2.26078e-16	0.163468	1	0
HYDIN	54768	broad.mit.edu	37	16	70897063	70897063	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:70897063G>T	ENST00000393567.2	-	68	11644	c.11494C>A	c.(11494-11496)Cgt>Agt	p.R3832S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3832								p.R3831S(2)|p.R3783S(2)|p.R3831C(1)|p.R3783C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTGGACACGTCCTGAATTA	0.463000													18	57					6.33239e-15	8.57251e-15	0.055883	1	0
FAF1	11124	broad.mit.edu	37	1	50941174	50941174	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:50941174C>A	ENST00000396153.2	-	18	2282	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	FAF1_ENST00000545823.1_Missense_Mutation_p.D369Y|FAF1_ENST00000371778.4_Missense_Mutation_p.D611Y	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	611	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.D611Y(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTACTCATCCCATGGAAAT	0.488000													6	196					0.00198382	0.00204855	0.029380	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565835	33565835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:33565835C>A	ENST00000321505.4	+	1	2015	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T612N|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T612N					KIAA1549-like									p.T612N(4)									TTTCCCAGGACCTCCTCCAGA	0.502000													14	172					3.27435e-08	3.77388e-08	0.119110	1	0
TET1	80312	broad.mit.edu	37	10	70446412	70446412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:70446412G>T	ENST00000373644.4	+	11	5561	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1784					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.K1784N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAAGCGGAAGAATAACTCAA	0.458000													18	123					1.37522e-17	1.96869e-17	0.189662	1	0
GUCY2F	2986	broad.mit.edu	37	X	108628501	108628501	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:108628501A>C	ENST00000218006.2	-	16	3258	c.2967T>G	c.(2965-2967)gtT>gtG	p.V989V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	989	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V989V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCACTCCAGCAACAACCGGCC	0.478000													7	91					0	0	0.119110	0	0
SKA2	348235	broad.mit.edu	37	17	57232319	57232319	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:57232319G>A	ENST00000580541.1	-	1	226	c.126C>T	c.(124-126)ctC>ctT	p.L42L	SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000330137.7_Intron|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000437036.2_Silent_p.L42L			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.L42L(2)		lung(4)	4						CCCCTTACCCGAGGCGGTTTA	0.612000													6	195					0	0	0.029380	0	0
RYR2	6262	broad.mit.edu	37	1	237955446	237955446	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:237955446G>T	ENST00000366574.2	+	94	13922	c.13605G>T	c.(13603-13605)acG>acT	p.T4535T	RYR2_ENST00000360064.6_Silent_p.T4541T|RYR2_ENST00000542537.1_Silent_p.T4519T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4535					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T4533T(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTCCCCACGAGAAGTTCAA	0.463000													7	37					5.4927e-09	6.43839e-09	0.047766	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376671	75376671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:75376671C>A	ENST00000555647.1	-	8	1132	c.845G>T	c.(844-846)aGg>aTg	p.R282M	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R282M|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R282M|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R251M			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	282	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity	p.R282M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGGAGAAGTCCTAGGAGGCTC	0.642000													41	116					1.38162e-09	1.6509e-09	0.104719	1	0
CCDC102B	79839	broad.mit.edu	37	18	66564585	66564585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:66564585G>C	ENST00000360242.5	+	6	1300	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	CCDC102B_ENST00000584156.1_Missense_Mutation_p.D395H|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D395H|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D395H	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	395								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGCTTTTGGATAAGAAAAA	0.408000													13	232					0	0	0.105934	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:74899193C>A	ENST00000289575.5	+	8	1380	c.985C>A	c.(985-987)Ccc>Acc	p.P329T	SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P307T|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.P185T|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.P102T|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.P102T|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.P213T|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.P74T	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	329					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.P329T(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAAGGACTCTCCCTCTAAGCA	0.557000													33	58					6.05902e-23	9.48544e-23	0.193644	1	0
INSC	387755	broad.mit.edu	37	11	15243085	15243085	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:15243085G>T	ENST00000379554.3	+	8	1069	c.1023G>T	c.(1021-1023)cgG>cgT	p.R341R	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Silent_p.R294R|INSC_ENST00000424273.1_Silent_p.R252R|INSC_ENST00000525218.1_Silent_p.R252R|INSC_ENST00000530161.1_Silent_p.R294R|INSC_ENST00000379556.3_Silent_p.R294R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	341					cell differentiation|nervous system development	cytoplasm	binding	p.R341R(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCCACACGGGCTGAGGCTG	0.637000													26	60					9.86064e-34	1.76827e-33	0.139131	1	0
TTLL11	158135	broad.mit.edu	37	9	124751501	124751501	+	Silent	SNP	C	C	G	rs144762491		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:124751501C>G	ENST00000321582.5	-	4	1699	c.1512G>C	c.(1510-1512)acG>acC	p.T504T	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Silent_p.T504T	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	504	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.T504T(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCGGCCTCCCCGTGGGGATGT	0.577000													21	228					0	0	0.069288	0	0
FLG	2312	broad.mit.edu	37	1	152285480	152285480	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152285480G>C	ENST00000368799.1	-	3	1917	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	628	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q628E(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTGACTGTCACTG	0.567000									Ichthyosis				232	525					0	0	0.139131	0	0
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:126173069G>A	ENST00000339582.2	-	9	3175	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	GRM8_ENST00000444921.2_Silent_p.T789T|GRM8_ENST00000358373.3_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATGCAGGTGGTATACATGG	0.408000										HNSCC(24;0.065)			15	100					0	0	0.132662	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140559208G>A	ENST00000239444.2	+	1	1838	c.1593G>A	c.(1591-1593)cgG>cgA	p.R531R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672000													45	307					0	0	0.139131	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:43430713G>A	ENST00000446844.3	-	0	954				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493000													103	544					0	0	0.139131	0	0
TG	7038	broad.mit.edu	37	8	133984858	133984858	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:133984858G>A	ENST00000220616.4	+	34	6111	c.6071G>A	c.(6070-6072)tGt>tAt	p.C2024Y	TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.C394Y|TG_ENST00000519543.1_Missense_Mutation_p.C178Y|TG_ENST00000377869.1_Missense_Mutation_p.C1967Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2024					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTGACATGTCTCACTCTG	0.443000													7	413					0	0	0.038147	0	0
USH2A	7399	broad.mit.edu	37	1	216143975	216143975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:216143975C>A	ENST00000366943.2	-	36	7335	c.6949G>T	c.(6949-6951)Ggc>Tgc	p.G2317C	USH2A_ENST00000307340.3_Missense_Mutation_p.G2317C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2317	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2317C(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAGTGGGCCCAGAGCACAA	0.453000										HNSCC(13;0.011)			33	178					1.22384e-17	1.75411e-17	0.173368	1	0
OR4A15	81328	broad.mit.edu	37	11	55135664	55135664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:55135664C>A	ENST00000314706.3	+	1	305	c.305C>A	c.(304-306)tCt>tAt	p.S102Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S102Y(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACCGTCTATTCTACTGCATTT	0.413000													83	225					5.2429e-30	9.01533e-30	0.139131	1	0
NPY4R	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:47087209C>T	ENST00000374312.1	+	3	845	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPY4R_ENST00000395716.1_Silent_p.L142L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.L142L(2)									GGCATCAGCTCATCATCAACC	0.592000													54	419					0	0	0.139131	0	0
ZP4	57829	broad.mit.edu	37	1	238051764	238051764	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:238051764C>A	ENST00000366570.4	-	4	605	c.447G>T	c.(445-447)cgG>cgT	p.R149R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	149	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R149R(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCAGTCTGTCCCGTGCTGGGA	0.473000													58	266					1.3268e-25	2.14895e-25	0.139131	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168457	142168457	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142168457G>T	ENST00000454561.2	-	0	466																											GCTATCATTAGGGAACTGGAG	0.542000													27	232					2.80507e-11	3.4944e-11	0.163468	1	0
MUC21	394263	broad.mit.edu	37	6	30955175	30955175	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:30955175C>A	ENST00000376296.3	+	2	1464	c.1223C>A	c.(1222-1224)tCt>tAt	p.S408Y	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	408	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S408Y(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.622000													36	159					1.17673e-23	1.85707e-23	0.139131	1	0
TTC5	91875	broad.mit.edu	37	14	20763566	20763566	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:20763566G>T	ENST00000258821.3	-	8	1019	c.963C>A	c.(961-963)ctC>ctA	p.L321L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	321					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TCAGTGGCTTGAGCTCCAGGG	0.582000													4	92					6.32553e-13	8.21197e-13	0.099896	1	0
OR52B4	143496	broad.mit.edu	37	11	4389399	4389399	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:4389399C>A	ENST00000408920.2	-	1	217	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCTGTTCCCAAGAAGGGCG	0.522000													9	62					0.00448238	0.00461642	0.047766	1	0
SCN2B	6327	broad.mit.edu	37	11	118037639	118037639	+	Missense_Mutation	SNP	G	G	A	rs140034265		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:118037639G>A	ENST00000278947.5	-	4	852	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	204					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TTCACCGTCCGTCTTGCCCTC	0.602000													5	265					0	0	0.021553	0	0
SPEF2	79925	broad.mit.edu	37	5	35793323	35793323	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:35793323G>T	ENST00000440995.2	+	32	4602	c.4602G>T	c.(4600-4602)ctG>ctT	p.L1534L	SPEF2_ENST00000356031.3_Silent_p.L1539L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.L336L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1539					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.L1539L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGTTCCTGTTAGTAACCT	0.448000													52	193					3.88204e-17	5.50347e-17	0.139131	1	0
RGS7BP	401190	broad.mit.edu	37	5	63803699	63803699	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:63803699C>G	ENST00000334025.2	+	2	653	c.327C>G	c.(325-327)atC>atG	p.I109M	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	109					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGGCTGCCATCTCAGGGTAGG	0.488000													5	70					0	0	0.184627	0	0
CPED1	79974	broad.mit.edu	37	7	120911454	120911454	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:120911454A>T	ENST00000310396.5	+	22	3305	c.2838A>T	c.(2836-2838)ctA>ctT	p.L946L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.L946L(1)|p.Q947K(1)									AAGAGTTTCTACAGGGGAAGT	0.328000													82	191					0	0	0.139131	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350576	50350576	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:50350576C>T	ENST00000376020.2	-	6	3591	c.3566G>A	c.(3565-3567)gGc>gAc	p.G1189D	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1189D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1073D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1189					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCCAGGTGGCCAAAGCTGAG	0.537000													6	61					0	0	0.029380	0	0
USP6	9098	broad.mit.edu	37	17	5045714	5045714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:5045714G>A	ENST00000574788.1	+	25	3965	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	USP6_ENST00000304328.5_Missense_Mutation_p.G262R|USP6_ENST00000250066.6_Missense_Mutation_p.G579R|USP6_ENST00000332776.4_Missense_Mutation_p.G579R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	579					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G579R(4)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTATGAAGGGGCATATGGC	0.418000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								20	63					0	0	0.076483	0	0
SPN	6693	broad.mit.edu	37	16	29675148	29675148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:29675148G>T	ENST00000360121.3	+	2	191	c.99G>T	c.(97-99)ttG>ttT	p.L33F	SPN_ENST00000395389.2_Missense_Mutation_p.L33F|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	33					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	p.L33F(2)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GAGAGCCTTTGGTCTCTACTA	0.577000													67	202					2.89935e-36	5.24752e-36	0.139131	1	0
NPHP3	27031	broad.mit.edu	37	3	132440852	132440852	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:132440852C>T	ENST00000326682.8	-	1	424	c.348G>A	c.(346-348)gaG>gaA	p.E116E	NPHP3_ENST00000337331.5_Silent_p.E116E|NPHP3_ENST00000343113.4_Silent_p.E116E|NPHP3_ENST00000383282.2_Silent_p.E116E|NPHP3-AS1_ENST00000489343.1_RNA			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	116					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.E116E(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCTTGGCCTCGCGGCGGC	0.667000													18	57					0	0	0.091800	0	0
PRKD1	5587	broad.mit.edu	37	14	30133065	30133065	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:30133065C>A	ENST00000331968.5	-	4	765	c.535_splice	c.e4-1	p.G179_splice	PRKD1_ENST00000415220.2_Splice_Site_p.G179_splice	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	179					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.G179V(4)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAGACCACACCCTGGAAAGGG	0.358000													72	213					7.59065e-32	1.32865e-31	0.139131	1	0
MRPL30	51263	broad.mit.edu	37	2	99804653	99804653	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:99804653G>T	ENST00000338148.3	+	3	263	c.65G>T	c.(64-66)gGt>gTt	p.G22V	C2orf15_ENST00000512183.2_Missense_Mutation_p.G22V|MRPL30_ENST00000410042.1_Missense_Mutation_p.G22V|MRPL30_ENST00000465432.1_Intron|MRPL30_ENST00000409145.1_Missense_Mutation_p.G22V	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	22					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G22V(2)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAAGGTGTGGAGTCT	0.313000													9	32					0.00829132	0.00849443	0.069234	1	0
PRPF38B	55119	broad.mit.edu	37	1	109241225	109241225	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:109241225G>T	ENST00000370021.1	+	6	862		c.e6-1		PRPF38B_ENST00000370025.4_Splice_Site			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing|RNA splicing	spliceosomal complex		p.?(2)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TGTTTCTGTAGGACCTAGATG	0.353000													24	94					5.77227e-19	8.47034e-19	0.134883	1	0
NEDD4	4734	broad.mit.edu	37	15	56140724	56140724	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:56140724T>C	ENST00000508342.1	-	12	3034	c.2735A>G	c.(2734-2736)aAt>aGt	p.N912S	NEDD4_ENST00000338963.2_Missense_Mutation_p.N840S|NEDD4_ENST00000506154.1_Missense_Mutation_p.N896S|NEDD4_ENST00000435532.3_Missense_Mutation_p.N493S			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	912	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.N493S(2)|p.N840S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CATACTGTGATTTATGTAGAA	0.308000													41	61					0	0	0.098360	0	0
C9orf84	158401	broad.mit.edu	37	9	114538232	114538232	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:114538232G>T	ENST00000374287.3	-	5	349	c.89C>A	c.(88-90)aCc>aAc	p.T30N	C9orf84_ENST00000374283.5_Missense_Mutation_p.T94N|C9orf84_ENST00000318737.4_Missense_Mutation_p.T30N			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	30								p.T30N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAATCTGGGTCACCATTCT	0.318000													18	60					1.56452e-12	2.00006e-12	0.189662	1	0
TEX13B	56156	broad.mit.edu	37	X	107225113	107225113	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:107225113T>A	ENST00000302917.1	-	2	337	c.245A>T	c.(244-246)cAg>cTg	p.Q82L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	82								p.Q82L(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TAACTGCCCCTGCCTGTGGGC	0.617000													84	115					0	0	0.139131	0	0
RXRG	6258	broad.mit.edu	37	1	165378913	165378913	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:165378913G>A	ENST00000359842.5	-	7	1230	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	310	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGGCAATCAGCAATTCATTC	0.502000													5	79					0	0	0.184627	0	0
RASGRF2	5924	broad.mit.edu	37	5	80408635	80408635	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:80408635T>C	ENST00000265080.4	+	14	2112	c.2045T>C	c.(2044-2046)cTc>cCc	p.L682P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	682	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L682P(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGGGAAACTCTCCGACATA	0.493000													68	189					0	0	0.139131	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089158	113089158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:113089158C>G	ENST00000409871.1	+	12	3064	c.2663C>G	c.(2662-2664)cCt>cGt	p.P888R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P888R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	888							nucleic acid binding|zinc ion binding	p.P888R(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTCCAGTACCTTTACCTAAA	0.403000													16	45					0	0	0.132662	0	0
EPHA5	2044	broad.mit.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K|EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.Q730K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATCAAACTGTCCCATGATA	0.388000										TSP Lung(17;0.13)			60	249					2.2129e-31	3.85611e-31	0.139131	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118006108	118006108	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:118006108C>A	ENST00000310754.4	-	1	628	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	148	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D148Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTTGGGTCTGACAGGCAG	0.383000													48	139					8.00217e-19	1.17132e-18	0.139131	1	0
LBP	3929	broad.mit.edu	37	20	36993396	36993396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:36993396C>A	ENST00000217407.2	+	8	1072	c.911C>A	c.(910-912)aCa>aAa	p.T304K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	304					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.T304K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTCTCCATCACAGATGACATG	0.453000													65	152					1.7104e-27	2.8531e-27	0.139131	1	0
PSD	5662	broad.mit.edu	37	10	104173662	104173662	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:104173662C>G	ENST00000020673.5	-	5	1943	c.1417G>C	c.(1417-1419)Gct>Cct	p.A473P	PSD_ENST00000406432.1_Missense_Mutation_p.A473P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	473					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.A258P(2)|p.A473P(2)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCATCAGCAGCAGAGCTGGTA	0.662000													36	67					0	0	0.086207	0	0
CKMT1B	1159	broad.mit.edu	37	15	43890471	43890471	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:43890471C>T	ENST00000300283.6	+	8	1349	c.957C>T	c.(955-957)aaC>aaT	p.N319N	CKMT1B_ENST00000441322.1_Silent_p.N319N	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	319	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.N319N(2)		large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GTCCATCTAACCTGGGCACTG	0.512000													87	160					0	0	0.139131	0	0
LYST	1130	broad.mit.edu	37	1	235973688	235973688	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:235973688T>C	ENST00000389794.3	-	5	604	c.430A>G	c.(430-432)Aga>Gga	p.R144G	LYST_ENST00000389793.2_Missense_Mutation_p.R144G|LYST_ENST00000536965.1_Missense_Mutation_p.R144G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	144					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R144G(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGCTGTCGTCTGCTTTTTCGA	0.398000													21	267					0	0	0.062417	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393555	136393555	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:136393555A>T	ENST00000264160.4	+	10	1164	c.794A>T	c.(793-795)aAa>aTa	p.K265I	R3HDM1_ENST00000329971.3_Missense_Mutation_p.K221I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.K221I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.K209I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.K265I	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	265							nucleic acid binding	p.K265I(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCTTTGACAAAGATGATAAC	0.323000													37	138					0	0	0.193644	0	0
COL5A2	1290	broad.mit.edu	37	2	189904126	189904126	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:189904126G>A	ENST00000374866.3	-	51	4071	c.3797C>T	c.(3796-3798)cCa>cTa	p.P1266L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1266L(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGAACCCCTGGGTCCGTTTT	0.517000													27	66					0	0	0.116897	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787877	27787877	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:27787877T>C	ENST00000318304.8	+	4	382	c.99T>C	c.(97-99)ttT>ttC	p.F33F	PPFIBP1_ENST00000228425.6_Silent_p.F33F|PPFIBP1_ENST00000542629.1_Silent_p.F33F|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000545334.1_Silent_p.F33F|PPFIBP1_ENST00000535047.1_Silent_p.F33F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	33					cell adhesion	plasma membrane	protein binding	p.F33F(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATGGGATTTTTGATTGCCAAT	0.418000													8	241					0	0	0.047766	0	0
TAF1L	138474	broad.mit.edu	37	9	32633786	32633786	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:32633786C>A	ENST00000242310.4	-	1	1881	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	598					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCGAAGACCCTGTTGCTTG	0.478000													103	322					3.77761e-39	6.9444e-39	0.139131	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48143570	48143570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:48143570C>A	ENST00000405493.2	-	9	931	c.722G>T	c.(721-723)tGg>tTg	p.W241L	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.W241L|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.W283L|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.W283L|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.W241L	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	241					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.W241L(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GATAATGTACCACGAAGTGCC	0.592000													79	89					5.41795e-27	8.92324e-27	0.139131	1	0
KCNK18	338567	broad.mit.edu	37	10	118960761	118960761	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:118960761C>T	ENST00000334549.1	+	2	315	c.315C>T	c.(313-315)agC>agT	p.S105S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	105						integral to membrane|plasma membrane		p.S105S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCTTCCTGAGCTCGCTCTTTT	0.557000													103	180					0	0	0.139131	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444598	49444598	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:49444598T>A	ENST00000374201.3	-	9	1224		c.e9-2		FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.?(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTGGAAAACTGGAGGAAAAC	0.552000													8	80					0	0	0.047766	0	0
KCTD3	51133	broad.mit.edu	37	1	215759874	215759874	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:215759874G>C	ENST00000259154.4	+	9	957	c.663G>C	c.(661-663)acG>acC	p.T221T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	221						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.T221T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGTGTTTACGAGCCCATATT	0.443000													61	206					0	0	0.139131	0	0
ASB10	136371	broad.mit.edu	37	7	150878458	150878458	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:150878458C>A	ENST00000422024.1	-	3	932	c.807G>T	c.(805-807)cgG>cgT	p.R269R	ASB10_ENST00000420175.2_Silent_p.R224R|ASB10_ENST00000377867.3_Silent_p.R209R|ASB10_ENST00000434669.1_Silent_p.R269R|ASB10_ENST00000275838.1_Silent_p.R224R	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	224					intracellular signal transduction			p.R224R(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGCCAAGCCGGGCGGCCA	0.632000													26	47					4.72057e-08	5.4194e-08	0.091800	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140712339G>T	ENST00000517417.1	+	1	2088	c.2088G>T	c.(2086-2088)gcG>gcT	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1												p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672000													49	80					1.80625e-27	3.00871e-27	0.139131	1	0
TBX22	50945	broad.mit.edu	37	X	79277847	79277847	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:79277847C>A	ENST00000373294.5	+	1	107	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.P27T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	27					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P27T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCAAGACCCAATACAGGC	0.607000													14	28					1.49906e-05	1.62387e-05	0.119110	1	0
ITIH1	3697	broad.mit.edu	37	3	52818397	52818397	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:52818397C>T	ENST00000273283.2	+	11	1335	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	ITIH1_ENST00000540715.1_Silent_p.H295H|ITIH1_ENST00000537050.1_Silent_p.H149H|ITIH1_ENST00000542827.1_Silent_p.H437H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	437	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.H437H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTTTCGGCCACAATGTGGACT	0.577000													35	73					0	0	0.183431	0	0
USP9X	8239	broad.mit.edu	37	X	41043661	41043661	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:41043661C>T	ENST00000324545.7	+	23	3924	c.3291C>T	c.(3289-3291)gcC>gcT	p.A1097A	USP9X_ENST00000378308.2_Silent_p.A1097A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1097					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.A1090A(2)|p.A1097A(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTATGCCTTGTTAATGC	0.398000													47	67					0	0	0.139131	0	0
CXorf61	203413	broad.mit.edu	37	X	115593113	115593113	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:115593113G>T	ENST00000371894.4	-	2	283	c.137C>A	c.(136-138)tCt>tAt	p.S46Y		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	46						integral to membrane|plasma membrane		p.S46Y(2)		breast(1)|large_intestine(3)|lung(8)	12						AATTAACCCAGAAGAAGAGGG	0.398000													48	62					1.19451e-25	1.93736e-25	0.139131	1	0
SMEK1	55671	broad.mit.edu	37	14	91927780	91927780	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:91927780C>A	ENST00000554684.1	-	14	2793	c.2297G>T	c.(2296-2298)gGc>gTc	p.G766V	SMEK1_ENST00000555462.1_Missense_Mutation_p.G540V|SMEK1_ENST00000554943.1_Missense_Mutation_p.G779V|SMEK1_ENST00000428424.2_Missense_Mutation_p.G540V|SMEK1_ENST00000337238.4_Missense_Mutation_p.G766V|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	779						microtubule organizing center|nucleus	protein binding	p.G779V(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCCAGGAGAGCCTGGAGATCC	0.488000													58	340					5.99346e-17	8.46603e-17	0.139131	1	0
SH2B1	25970	broad.mit.edu	37	16	28878264	28878264	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:28878264G>T	ENST00000337120.5	+	1	4140	c.849G>T	c.(847-849)ggG>ggT	p.G283G	SH2B1_ENST00000359285.5_Silent_p.G283G|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Silent_p.G283G|SH2B1_ENST00000395532.4_Silent_p.G283G|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	283	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G283G(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGGGAGGAGGGCAGCCTCAGT	0.647000													12	48					0.000151284	0.000160757	0.105934	1	0
OR5K3	403277	broad.mit.edu	37	3	98110266	98110266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:98110266C>A	ENST00000383695.1	+	1	757	c.757C>A	c.(757-759)Ctt>Att	p.L253I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L253I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGATTCCCTTCTCTTCAT	0.353000													37	181					4.14481e-20	6.27076e-20	0.086207	1	0
TCF7L2	6934	broad.mit.edu	37	10	114918424	114918424	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:114918424A>T	ENST00000545257.1	+	13	1825		c.e13-1		TCF7L2_ENST00000369397.4_Splice_Site|TCF7L2_ENST00000355995.4_Splice_Site|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000352065.5_Splice_Site|TCF7L2_ENST00000542695.1_Splice_Site|TCF7L2_ENST00000534894.1_Splice_Site|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000538897.1_Splice_Site|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000543371.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTTTTTTTTCAGAACACAGCG	0.353000			T	VTI1A	colorectal								11	119					0	0	0.080935	0	0
PTK7	5754	broad.mit.edu	37	6	43096872	43096872	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:43096872C>T	ENST00000230419.4	+	2	458	c.237C>T	c.(235-237)ttC>ttT	p.F79F	PTK7_ENST00000345201.2_Silent_p.F79F|PTK7_ENST00000349241.2_Silent_p.F79F|PTK7_ENST00000471863.1_Silent_p.F79F|PTK7_ENST00000352931.2_Silent_p.F79F|PTK7_ENST00000476760.1_Silent_p.F79F|PTK7_ENST00000481273.1_Silent_p.F87F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	79	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCGGCGTTTCGCCCAGGGCA	0.662000													5	74					0	0	0.058154	0	0
PUM2	23369	broad.mit.edu	37	2	20482749	20482749	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:20482749C>T	ENST00000361078.2	-	11	1701	c.1679G>A	c.(1678-1680)gGt>gAt	p.G560D	PUM2_ENST00000403432.1_Missense_Mutation_p.G560D|PUM2_ENST00000319801.5_Missense_Mutation_p.G560D|PUM2_ENST00000536417.1_Missense_Mutation_p.G504D|PUM2_ENST00000338086.5_Missense_Mutation_p.G560D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	560	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.G560D(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATAGCAGCACCCAAAGAGTT	0.428000													27	95					0	0	0.144211	0	0
LILRB1	10859	broad.mit.edu	37	19	55146212	55146212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:55146212C>A	ENST00000396331.1	+	11	1838	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S478*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S478*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S544*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S495*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S495*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S494*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S495*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S494*|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S494*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	494					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S494*(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACTGGACATCGAGTGAGTAG	0.577000										HNSCC(37;0.09)			57	157					1.64573e-32	2.91111e-32	0.139131	1	0
PHLDA1	22822	broad.mit.edu	37	12	76424788	76424788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:76424788C>A	ENST00000266671.5	-	1	2924	c.734G>T	c.(733-735)cGc>cTc	p.R245L	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.R104L			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	245	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	p.R245L(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CTTGCCCTTGCGCTCCACACA	0.612000													59	70					9.59835e-30	1.64804e-29	0.139131	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121623757	121623757	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:121623757C>G	ENST00000393386.2	+	7	1069	c.658C>G	c.(658-660)Ctt>Gtt	p.L220V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L220V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	220	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.L220V(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTGAACCTTCTGCCAAA	0.393000													116	223					0	0	0.139131	0	0
TKTL2	84076	broad.mit.edu	37	4	164393898	164393898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:164393898G>T	ENST00000280605.3	-	1	1149	c.989C>A	c.(988-990)gCt>gAt	p.A330D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	330						cytoplasm	metal ion binding|transketolase activity	p.A330D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				gcccagtttagccagagccaa	0.428000													84	279					3.71514e-35	6.68268e-35	0.139131	1	0
SZT2	23334	broad.mit.edu	37	1	43909130	43909130	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:43909130T>C	ENST00000562955.1	+	60	8436	c.8436T>C	c.(8434-8436)tcT>tcC	p.S2812S	SZT2_ENST00000372442.1_Silent_p.S1970S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2869						peroxisome		p.S1970S(4)|p.S2812S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGAGACCTCTGGACCCCCTG	0.612000													15	70					0	0	0.119110	0	0
PKNOX2	63876	broad.mit.edu	37	11	125299921	125299921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:125299921C>A	ENST00000298282.9	+	12	1347	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	PKNOX2_ENST00000542175.1_Missense_Mutation_p.A295D|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	359						nucleus	sequence-specific DNA binding transcription factor activity	p.A359D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCAGATCCTGCCCCCAAAGCC	0.607000													43	400					3.86236e-30	6.65121e-30	0.139131	1	0
CTNND2	1501	broad.mit.edu	37	5	11346694	11346694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:11346694C>A	ENST00000304623.8	-	9	1607	c.1418G>T	c.(1417-1419)gGc>gTc	p.G473V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.G382V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G136V|CTNND2_ENST00000458100.2_Missense_Mutation_p.G40V|CTNND2_ENST00000359640.2_Missense_Mutation_p.G473V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.G473V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCTGGCTGCCTGTGCGCTG	0.617000													33	94					1.45844e-13	1.91891e-13	0.173368	1	0
RUVBL1	8607	broad.mit.edu	37	3	127842427	127842427	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:127842427C>A	ENST00000322623.5	-	1	240	c.141_splice	c.e1+1	p.E47_splice	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Splice_Site_p.E47_splice	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	47					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.E47D(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGGCCACACCTCTCGCGCGT	0.706000													14	39					1.5842e-08	1.84403e-08	0.105934	1	0
TTN	7273	broad.mit.edu	37	2	179641380	179641380	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179641380C>G	ENST00000589042.1	-	28	5435	c.5211G>C	c.(5209-5211)gaG>gaC	p.E1737D	TTN_ENST00000359218.5_Missense_Mutation_p.E1691D|TTN_ENST00000342992.6_Missense_Mutation_p.E1737D|TTN_ENST00000342175.6_Missense_Mutation_p.E1691D|TTN_ENST00000591111.1_Missense_Mutation_p.E1737D|TTN_ENST00000360870.5_Missense_Mutation_p.E1737D|TTN_ENST00000460472.2_Missense_Mutation_p.E1691D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1489	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGAGCCACTCCACCACCA	0.473000													5	114					0	0	0.184627	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159297	18159297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:18159297G>A	ENST00000396275.2	+	3	909	c.548G>A	c.(547-549)tGg>tAg	p.W183*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W183*(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACAATCGCGTGGCTGGTTTTT	0.512000													27	144					0	0	0.099896	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266036	89266036	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:89266036G>T	ENST00000464162.1	-	0	124																											ATGCAGACAGGGAGGATGGAG	0.468000													92	282					4.5313e-69	8.88803e-69	0.139131	1	0
BRAF	673	broad.mit.edu	37	7	140476865	140476865	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:140476865A>G	ENST00000288602.6	-	13	1601	c.1541T>C	c.(1540-1542)cTa>cCa	p.L514P		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	514	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CATGAAGAGTAGGATATTCAC	0.398000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	148					0	0	0.184627	0	0
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:220752848G>A	ENST00000366918.4	+	2	801	c.204G>A	c.(202-204)aaG>aaA	p.K68K	MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366917.4_Silent_p.K68K			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.K68K(2)|p.K68N(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAATAGGGAAGGGAAATTTTG	0.433000													18	131					0	0	0.189662	0	0
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:51143400G>T	ENST00000414786.2	+	16	2090	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G	SHANK3_ENST00000445220.2_Silent_p.G636G|SHANK3_ENST00000262795.3_Silent_p.G651G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	651								p.G651G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGAACGGGGTGAACGTGG	0.632000													39	120					8.01111e-26	1.30292e-25	0.117977	1	0
ZNF385A	25946	broad.mit.edu	37	12	54767848	54767848	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:54767848G>C	ENST00000546970.1	-	5	559	c.270C>G	c.(268-270)acC>acG	p.T90T	ZNF385A_ENST00000551109.1_Silent_p.T90T|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000394313.2_Silent_p.T90T|ZNF385A_ENST00000338010.5_Silent_p.T110T|ZNF385A_ENST00000352268.6_Silent_p.T110T|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Silent_p.T90T			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.T90T(4)|p.T110T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCTGCCTCTGGTCTTGGCAG	0.597000													46	41					0	0	0.139131	0	0
LAMC3	10319	broad.mit.edu	37	9	133914297	133914297	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:133914297G>T	ENST00000361069.4	+	5	1156	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	341	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity	p.E341D(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGATCGGGAGCTCTTCCGCA	0.617000													16	154					1.96292e-10	2.3869e-10	0.055883	1	0
OR52K1	390036	broad.mit.edu	37	11	4510989	4510989	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:4510989C>G	ENST00000307632.3	+	1	881	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTTTCCCACCCATGGTCAA	0.463000													66	235					0	0	0.139131	0	0
CSMD2	114784	broad.mit.edu	37	1	34006151	34006151	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:34006151C>A	ENST00000373381.4	-	60	9781	c.9605G>T	c.(9604-9606)tGg>tTg	p.W3202L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3178	Sushi 26.					integral to membrane|plasma membrane	protein binding	p.W3058L(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCGGTCCAGGACCCATT	0.577000													23	197					2.39556e-15	3.27711e-15	0.076483	1	0
PHF14	9678	broad.mit.edu	37	7	11068427	11068427	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:11068427A>T	ENST00000403050.3	+	7	1889	c.1437A>T	c.(1435-1437)tcA>tcT	p.S479S	PHF14_ENST00000445996.2_Silent_p.S194S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	479							zinc ion binding	p.S479S(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GTCTGCTTTCAGAGGCAGCGG	0.433000													22	141					0	0	0.108266	0	0
C10orf82	143379	broad.mit.edu	37	10	118425181	118425181	+	Missense_Mutation	SNP	G	G	T	rs138140121	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:118425181G>T	ENST00000369210.3	-	3	266	c.212C>A	c.(211-213)tCc>tAc	p.S71Y	C10orf82_ENST00000588184.1_Missense_Mutation_p.S71Y	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	71								p.S71Y(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CGTCTCCTCGGAGTTGACAGG	0.567000													46	62					6.3008e-33	1.11792e-32	0.139131	1	0
OR13C2	392376	broad.mit.edu	37	9	107367610	107367610	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:107367610T>A	ENST00000542196.1	-	1	341	c.299A>T	c.(298-300)cAg>cTg	p.Q100L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAGGAACATCTGCACTGCACA	0.522000													23	156					0	0	0.098360	0	0
TXNDC12	51060	broad.mit.edu	37	1	52486661	52486661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:52486661G>A	ENST00000371626.4	-	7	1537	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	0	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.Q155*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGCCTTTCCTGAGCTTCCTTC	0.383000													18	104					0	0	0.069288	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600081	58600081	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:58600081C>A	ENST00000240727.6	-	3	926	c.527G>T	c.(526-528)gGg>gTg	p.G176V	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.G232V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.G41V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.G176V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	176					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G176V(1)|p.G232V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGGATCTCCCCAGCTCCAAG	0.637000													31	61					6.21074e-16	8.56629e-16	0.124865	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51630332	51630332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51630332G>T	ENST00000440804.3	+	4	861	c.794G>T	c.(793-795)gGc>gTc	p.G265V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G265V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	265	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.G265V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCCCAGAGGGCCAGTCTCTG	0.542000													61	155					1.26778e-28	2.14533e-28	0.139131	1	0
YARS2	51067	broad.mit.edu	37	12	32908775	32908775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:32908775C>A	ENST00000324868.8	-	1	61	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	12					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	p.G12C(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GACCACCGGCCCCAGGAAAAG	0.612000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	60					1.91693e-13	2.51088e-13	0.139131	1	0
CD244	51744	broad.mit.edu	37	1	160808305	160808305	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:160808305G>T	ENST00000368034.4	-	5	947	c.770C>A	c.(769-771)aCc>aAc	p.T257N	CD244_ENST00000368032.2_Missense_Mutation_p.T257N|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368033.3_Missense_Mutation_p.T262N|CD244_ENST00000322302.7_Missense_Mutation_p.T165N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	262					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.T257N(2)|p.T262N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTGGGACTGGTCTCTGAGGG	0.488000													38	195					3.38236e-24	5.38144e-24	0.092188	1	0
ULK4	54986	broad.mit.edu	37	3	41860964	41860964	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:41860964G>T	ENST00000301831.4	-	19	2261	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	600							ATP binding|protein serine/threonine kinase activity	p.A600D(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAGGGAACAGCCCAGCACTC	0.438000													15	158					5.3912e-06	5.91114e-06	0.175082	1	0
MAP2K3	5606	broad.mit.edu	37	17	21201787	21201787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:21201787C>A	ENST00000342679.4	+	2	361	c.112C>A	c.(112-114)Ccc>Acc	p.P38T	MAP2K3_ENST00000316920.6_Missense_Mutation_p.P9T|MAP2K3_ENST00000361818.5_Missense_Mutation_p.P9T	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	38					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P42T(2)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGCACCCAACCCCACGTGAGT	0.582000													31	268					1.7881e-09	2.13442e-09	0.134883	1	0
BAGE2	85319	broad.mit.edu	37	21	11058324	11058324	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:11058324C>T	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGCACATCGCTGAAAGGGGT	0.383000													6	323					0	0	0.021553	0	0
GALNT3	2591	broad.mit.edu	37	2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	545	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383000													7	192					0	0	0.047766	0	0
IGSF10	285313	broad.mit.edu	37	3	151164627	151164627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:151164627C>A	ENST00000282466.3	-	4	3141	c.3142G>T	c.(3142-3144)Gaa>Taa	p.E1048*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1048					cell differentiation|multicellular organismal development|ossification	extracellular region		p.E1048*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCTTTTTTCAGAAGAACCT	0.493000													82	152					2.9778e-19	4.40278e-19	0.139131	1	0
SEC31A	22872	broad.mit.edu	37	4	83740390	83740390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:83740390G>T	ENST00000432794.1	-	28	3702	c.3539C>A	c.(3538-3540)aCc>aAc	p.T1180N	SEC31A_ENST00000505984.1_Missense_Mutation_p.T1113N|SEC31A_ENST00000513858.1_Missense_Mutation_p.T1014N|SEC31A_ENST00000395310.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000500777.2_Missense_Mutation_p.T1014N|SEC31A_ENST00000505472.1_Missense_Mutation_p.T1198N|SEC31A_ENST00000264405.5_Missense_Mutation_p.T916N|SEC31A_ENST00000326950.5_Missense_Mutation_p.T1128N|SEC31A_ENST00000443462.2_Missense_Mutation_p.T1147N|SEC31A_ENST00000311785.7_Missense_Mutation_p.T1053N|SEC31A_ENST00000348405.4_Missense_Mutation_p.T1128N|SEC31A_ENST00000448323.1_Missense_Mutation_p.T1167N|SEC31A_ENST00000508502.1_Missense_Mutation_p.T1152N|SEC31A_ENST00000355196.2_Missense_Mutation_p.T1167N|SEC31A_ENST00000509142.1_Missense_Mutation_p.T1053N			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1167					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.T1167N(2)|p.T1180N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TAAACCACTGGTGATTGTTGG	0.393000													23	94					6.21321e-17	8.76587e-17	0.076483	1	0
HOXA3	3200	broad.mit.edu	37	7	27147954	27147954	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:27147954G>T	ENST00000396352.4	-	3	1111	c.912C>A	c.(910-912)acC>acA	p.T304T	HOXA3_ENST00000317201.2_Silent_p.T304T|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	304					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T304T(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCAGCCCGTAGGTACCCTGGG	0.716000													13	32					5.50884e-06	6.03447e-06	0.093190	1	0
CXCR4	7852	broad.mit.edu	37	2	136872509	136872509	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:136872509G>C	ENST00000409817.1	-	1	1304	c.1001C>G	c.(1000-1002)tCc>tGc	p.S334C	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.S330C	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	330					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CTTTCCTTTGGAGAGGATCTT	0.463000													13	768					0	0	0.105934	0	0
LGI3	203190	broad.mit.edu	37	8	22005801	22005801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:22005801C>A	ENST00000306317.2	-	8	1808	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	LGI3_ENST00000424267.2_Nonsense_Mutation_p.E483*	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	507					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.E507*(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACAGCCAGCTCCTGGAACCGT	0.612000													13	42					1.5739e-10	1.92383e-10	0.146539	1	0
EBF2	64641	broad.mit.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:25744284C>G	ENST00000520164.1	-	10	1533	c.996G>C	c.(994-996)agG>agC	p.R332S	EBF2_ENST00000535548.1_Missense_Mutation_p.R63S|EBF2_ENST00000408929.3_Missense_Mutation_p.R184S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.R332S(5)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTAAATGAACCTTCCTGGGG	0.483000													22	106					0	0	0.069288	0	0
ASPM	259266	broad.mit.edu	37	1	197070066	197070066	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:197070066T>C	ENST00000367409.4	-	18	8571	c.8315A>G	c.(8314-8316)cAa>cGa	p.Q2772R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2772					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2772R(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGTGCAGATTGGTTAACAAT	0.383000													33	234					0	0	0.203993	0	0
GSTM5	2949	broad.mit.edu	37	1	110257934	110257934	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:110257934C>A	ENST00000369813.1	+	5	1421	c.516C>A	c.(514-516)tcC>tcA	p.S172S	GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTTCCCAGTCCTGGAGCTACA	0.458000													11	66					0.00829132	0.00849443	0.069234	1	0
LHX9	56956	broad.mit.edu	37	1	197890482	197890482	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:197890482C>A	ENST00000367390.3	+	4	426	c.399C>A	c.(397-399)gcC>gcA	p.A133A	LHX9_ENST00000367391.1_Silent_p.A133A|LHX9_ENST00000337020.2_Silent_p.A142A|LHX9_ENST00000367387.4_Silent_p.A142A|LHX9_ENST00000561173.1_Silent_p.A148A	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	142	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.A133A(2)|p.A142A(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCATTTCCGCCTCGGAGATGG	0.572000													22	136					9.57634e-11	1.17546e-10	0.083992	1	0
TRAV12-2	28673	broad.mit.edu	37	14	22356183	22356183	+	RNA	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22356183G>C	ENST00000390437.2	+	0	147																											TGTGGCTTCAGTTGAGCTGTG	0.363000													11	37					0	0	0.093190	0	0
GPR98	84059	broad.mit.edu	37	5	89986703	89986703	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:89986703G>T	ENST00000405460.2	+	31	6892	c.6796G>T	c.(6796-6798)Ggc>Tgc	p.G2266C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2266					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G2266C(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGACACTCGGCAATGTTAC	0.458000													14	46					1.49906e-05	1.62387e-05	0.119110	1	0
NETO1	81832	broad.mit.edu	37	18	70423369	70423369	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:70423369G>T	ENST00000327305.6	-	8	1539	c.882C>A	c.(880-882)ggC>ggA	p.G294G	NETO1_ENST00000299430.2_Silent_p.G293G|NETO1_ENST00000583169.1_Silent_p.G294G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	294	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G294G(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATGTGTTGCCTTCACAAG	0.343000													32	99					9.65021e-13	1.24728e-12	0.153744	1	0
NBAS	51594	broad.mit.edu	37	2	15417226	15417226	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:15417226C>A	ENST00000281513.5	-	43	5164		c.e43-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence									p.?(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGTGGACAAACTGAAATTAAG	0.358000													21	52					3.01185e-09	3.5625e-09	0.091800	1	0
APOB	338	broad.mit.edu	37	2	21245902	21245902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:21245902G>T	ENST00000233242.1	-	18	2744	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	873					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L873M(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGCCACCAGTTCAGCCTGC	0.473000													19	128					3.85864e-22	5.92975e-22	0.076483	1	0
COBL	23242	broad.mit.edu	37	7	51096651	51096651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:51096651C>A	ENST00000395542.2	-	12	2572	c.2388G>T	c.(2386-2388)aaG>aaT	p.K796N	COBL_ENST00000265136.7_Missense_Mutation_p.K714N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	714								p.K714N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCATCTCTGACTTTGGAGGAA	0.522000													46	100					2.64894e-19	3.92151e-19	0.139131	1	0
ITGA2B	3674	broad.mit.edu	37	17	42455747	42455747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:42455747C>A	ENST00000262407.5	-	20	2108	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A693S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	693					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A693S(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTGCTTAGGGCCCGCATGTAG	0.647000													10	28					0.000978159	0.00102179	0.080935	1	0
MX2	4600	broad.mit.edu	37	21	42771258	42771258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:42771258C>T	ENST00000330714.3	+	10	1592	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	470					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.Q470*(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACTAATACCCAAAAAGGTAA	0.443000													20	117					0	0	0.204396	0	0
MAPK4	5596	broad.mit.edu	37	18	48190638	48190638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:48190638G>A	ENST00000400384.2	+	2	1346	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.V104I|MAPK4_ENST00000588540.1_Missense_Mutation_p.V104I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	104	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.V104I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGCGTACATCGTCCAGGAGTA	0.612000													5	106					0	0	0.021553	0	0
CIC	23152	broad.mit.edu	37	19	42794026	42794026	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:42794026A>G	ENST00000572681.2	+	10	4182	c.4114A>G	c.(4114-4116)Att>Gtt	p.I1372V	CIC_ENST00000575354.2_Missense_Mutation_p.I463V|CIC_ENST00000160740.3_Missense_Mutation_p.I463V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I463V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCACTGACATTGATCTCAA	0.617000			"""Mis, F, S"""		oligodendroglioma								5	13					0	0	0.021553	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:77745831G>A	ENST00000409088.3	-	3	1578	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	LRRTM4_ENST00000409911.1_Silent_p.T389T|LRRTM4_ENST00000409282.1_Silent_p.T389T|LRRTM4_ENST00000409093.1_Silent_p.T388T|LRRTM4_ENST00000409884.1_Silent_p.T388T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388						integral to membrane		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473000													20	74					0	0	0.076483	0	0
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:31810643C>T	ENST00000446923.2	+	7	2723	c.2332C>T	c.(2332-2334)Cca>Tca	p.P778S	ZEB1_ENST00000320985.10_Missense_Mutation_p.P794S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P774S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P727S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P795S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	794					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P794S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGTAATCCCACCAAGTGC	0.453000													34	111					0	0	0.183431	0	0
NIPAL3	57185	broad.mit.edu	37	1	24785406	24785406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:24785406G>T	ENST00000003912.3	+	10	1271	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	NIPAL3_ENST00000374399.4_Missense_Mutation_p.D268Y|NIPAL3_ENST00000339255.2_Missense_Mutation_p.D268Y			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	268						integral to membrane		p.D268Y(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						ACAGATGTACGACTCCTCTTT	0.468000													38	112					4.01765e-15	5.45786e-15	0.111260	1	0
C2orf16	84226	broad.mit.edu	37	2	27803275	27803275	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:27803275G>C	ENST00000408964.2	+	1	3887	c.3836G>C	c.(3835-3837)aGa>aCa	p.R1279T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1279										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCTAAAGTGAGAACCAAAAAG	0.398000													5	204					0	0	0.184627	0	0
OR14A16	284532	broad.mit.edu	37	1	247978554	247978554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247978554C>A	ENST00000357627.1	-	1	477	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160C(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAGAAGGTGCCAGCTGTGTGC	0.473000													57	216					2.23044e-30	3.85227e-30	0.139131	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130340820	130340820	+	Missense_Mutation	SNP	G	G	A	rs147190472		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:130340820G>A	ENST00000299164.2	+	6	1726	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	576	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G576R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTAGCCTCCGGAAAGAGCTT	0.602000													35	587					0	0	0.203993	0	0
CYP4F3	4051	broad.mit.edu	37	19	15759996	15759996	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:15759996G>T	ENST00000221307.7	+	6	600	c.552G>T	c.(550-552)gaG>gaT	p.E184D	CYP4F3_ENST00000586182.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.E184D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.E184D	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	184				EGS -> KGY (in Ref. 3; AAC08589).	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.E184D(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCTCAGAGGGTAGTGCCC	0.557000													18	58					1.2644e-06	1.40343e-06	0.055883	1	0
TNC	3371	broad.mit.edu	37	9	117826978	117826978	+	Nonsense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:117826978A>C	ENST00000350763.4	-	11	3846	c.3435T>G	c.(3433-3435)taT>taG	p.Y1145*	TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Nonsense_Mutation_p.Y1145*|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Nonsense_Mutation_p.Y1145*|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1145	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.Y1145*(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGATCACCCCATAGATGGAGA	0.537000													43	401					0	0	0.131918	0	0
USH2A	7399	broad.mit.edu	37	1	216496873	216496873	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:216496873G>T	ENST00000366943.2	-	8	1879	c.1493C>A	c.(1492-1494)aCt>aAt	p.T498N	USH2A_ENST00000366942.3_Missense_Mutation_p.T498N|USH2A_ENST00000307340.3_Missense_Mutation_p.T498N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	498	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T498N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTAACAGCAGTCTCAGTTGT	0.368000										HNSCC(13;0.011)			80	223					9.10118e-52	1.73858e-51	0.139131	1	0
TXK	7294	broad.mit.edu	37	4	48114498	48114498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:48114498C>T	ENST00000264316.4	-	4	291	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R69Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAGTGGCTTTCGTTTTGACGG	0.433000													17	234					0	0	0.189662	0	0
KCNK6	9424	broad.mit.edu	37	19	38817394	38817394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:38817394G>T	ENST00000263372.3	+	2	591	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	162						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.G162C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CATGCGTTGGGGCTGGGACCC	0.677000													14	67					9.31168e-06	1.01621e-05	0.105934	1	0
DUSP15	128853	broad.mit.edu	37	20	30454916	30454916	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:30454916T>A	ENST00000278979.3	-	3	163	c.87A>T	c.(85-87)acA>acT	p.T29T	DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Silent_p.T29T|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000339738.5_Silent_p.T32T|DUSP15_ENST00000486996.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	29						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T32T(1)|p.T29T(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGATGATGTGTGTGATCTTAT	0.547000													4	12					0	0	0.150653	0	0
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:26688465G>C	ENST00000436292.1	-	7	1372	c.1252C>G	c.(1252-1254)Cgc>Ggc	p.R418G	ZNF683_ENST00000403843.1_Missense_Mutation_p.R418G|ZNF683_ENST00000374204.1_Missense_Mutation_p.R398G|ZNF683_ENST00000349618.3_Missense_Mutation_p.R398G			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R398G(2)|p.R403G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GAGTGCAGGCGCAGGTGGGTC	0.637000													43	98					0	0	0.111260	0	0
KDM3A	55818	broad.mit.edu	37	2	86718115	86718115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:86718115C>T	ENST00000409556.1	+	25	4050	c.3685C>T	c.(3685-3687)Caa>Taa	p.Q1229*	KDM3A_ENST00000542128.1_Nonsense_Mutation_p.Q1177*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.Q1229*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.Q1229*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1229	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q1229*(4)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTATGGAGTTCAAGGCTGGGC	0.423000													33	216					0	0	0.203993	0	0
ILF3	3609	broad.mit.edu	37	19	10793909	10793909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:10793909G>C	ENST00000449870.1	+	14	1974	c.1657G>C	c.(1657-1659)Ggc>Cgc	p.G553R	ILF3_ENST00000592763.1_Missense_Mutation_p.G553R|ILF3_ENST00000250241.8_Missense_Mutation_p.G549R|ILF3_ENST00000318511.3_Missense_Mutation_p.G549R|ILF3_ENST00000588657.1_Missense_Mutation_p.G553R|ILF3_ENST00000407004.3_Missense_Mutation_p.G553R|ILF3_ENST00000420083.1_Missense_Mutation_p.G549R|ILF3_ENST00000589998.1_Missense_Mutation_p.G549R|ILF3_ENST00000590261.1_Missense_Mutation_p.G549R	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	549	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.G549R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGAGACCGGGGGCAGCCACGA	0.652000													20	47					0	0	0.108266	0	0
ELTD1	64123	broad.mit.edu	37	1	79402013	79402013	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:79402013A>T	ENST00000370742.3	-	7	907	c.844T>A	c.(844-846)Ttt>Att	p.F282I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	282					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F282I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTCTTTGGAAATATATTTATG	0.279000													28	212					0	0	0.144211	0	0
OR2T1	26696	broad.mit.edu	37	1	248569631	248569631	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248569631C>G	ENST00000366474.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCCTCCTCAGCCACC	0.438000													20	382					0	0	0.055883	0	0
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:216923646G>A	ENST00000265322.7	-	4	552	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.P160S(2)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCTTTAGTAGGGACAATGATA	0.378000													30	83					0	0	0.163468	0	0
SQSTM1	8878	broad.mit.edu	37	5	179250885	179250885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:179250885G>T	ENST00000389805.4	+	3	507	c.329G>T	c.(328-330)cGc>cTc	p.R110L	SQSTM1_ENST00000402874.3_Missense_Mutation_p.R26L|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R110L|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R26L|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R26L	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	110					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	p.R110L(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGACCACCGCCCACCGTGT	0.622000													30	90					1.62565e-12	2.07594e-12	0.163468	1	0
BPIFB1	92747	broad.mit.edu	37	20	31873972	31873972	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:31873972C>T	ENST00000253354.1	+	2	254	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	31						extracellular space	lipid binding	p.L31L(2)									TTCTCATCCTCGGCCCAAAAG	0.567000													28	134					0	0	0.125774	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757446	75757446	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:75757446G>T	ENST00000274364.6	+	2	395	c.98G>T	c.(97-99)cGg>cTg	p.R33L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	33					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.R33L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGAGGAGGCGGCAGAACATT	0.423000													31	178					1.36161e-19	2.03894e-19	0.203993	1	0
POLDIP3	84271	broad.mit.edu	37	22	42981234	42981234	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:42981234C>T	ENST00000339677.6	-	3	538	c.539G>A	c.(538-540)aGt>aAt	p.S180N	POLDIP3_ENST00000252115.5_3'UTR|POLDIP3_ENST00000348657.2_3'UTR			Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	0					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	p.S180N(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCTGGAGCCACTGGGGAGAGG	0.632000													5	30					0	0	0.184627	0	0
HDAC4	9759	broad.mit.edu	37	2	240066294	240066294	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:240066294G>A	ENST00000345617.3	-	8	1641	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.P253S|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	284	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P284S(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACATCCAACGGACGCTTTTTT	0.577000													41	98					0	0	0.139131	0	0
SOX7	83595	broad.mit.edu	37	8	10690446	10690446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:10690446C>A	ENST00000554914.1	-	3	268	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L	SOX7_ENST00000553390.1_Missense_Mutation_p.V60L|PINX1_ENST00000314787.3_Missense_Mutation_p.V60L|PINX1_ENST00000426190.2_Missense_Mutation_p.V58L|PINX1_ENST00000519088.1_Missense_Mutation_p.V60L|PINX1_ENST00000520018.2_5'UTR			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	0					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.V60L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TTATTTTTCACTTGAACTTTA	0.448000													5	17					0.00198382	0.00204855	0.029380	1	0
DIDO1	11083	broad.mit.edu	37	20	61511318	61511318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:61511318G>T	ENST00000266070.4	-	16	6315	c.5990C>A	c.(5989-5991)cCc>cAc	p.P1997H	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1997H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1997	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCAGAAAAGGGTGCGGACCC	0.602000													10	389					7.48243e-07	8.35264e-07	0.058154	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794437	15794437	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:15794437G>A	ENST00000550308.1	+	7	1162	c.782G>A	c.(781-783)cGc>cAc	p.R261H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R261H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGGCCTGCCGCCTGGTGCAT	0.552000													6	183					0	0	0.038147	0	0
TMC6	11322	broad.mit.edu	37	17	76113395	76113395	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:76113395C>A	ENST00000590602.1	-	18	2391	c.2232G>T	c.(2230-2232)cgG>cgT	p.R744R	TMC6_ENST00000591436.1_Silent_p.R323R|TMC6_ENST00000322914.3_Silent_p.R744R|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.R323R|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Silent_p.R744R			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744						endoplasmic reticulum membrane|integral to membrane		p.R744R(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCGCTGGCCCCGCACCACCT	0.682000													39	149					2.40579e-17	3.41891e-17	0.086207	1	0
BRD8	10902	broad.mit.edu	37	5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:137476521C>T	ENST00000254900.5	-	26	3859	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1163	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R1163H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443000													9	624					0	0	0.093190	0	0
NBAS	51594	broad.mit.edu	37	2	15468435	15468435	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:15468435C>A	ENST00000281513.5	-	37	4374	c.4347_splice	c.e37-1	p.G1450_splice	NBAS_ENST00000441750.1_Splice_Site_p.G1330_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450								p.G1450V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACATTTTTGCCCCTaaaaaga	0.388000													34	218					3.90053e-15	5.3049e-15	0.163468	1	0
SERPINB12	89777	broad.mit.edu	37	18	61231212	61231212	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:61231212T>A	ENST00000382768.1	+	5	564	c.562_splice	c.e5-1	p.G188_splice	SERPINB12_ENST00000269491.1_Splice_Site_p.G168_splice			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	168					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTTTTAGGTAAAATCAAGG	0.353000													13	190					0	0	0.105934	0	0
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:160811267C>A	ENST00000368034.4	-	3	565	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CD244_ENST00000368032.2_Nonsense_Mutation_p.E130*|CD244_ENST00000368033.3_Nonsense_Mutation_p.E135*|CD244_ENST00000322302.7_Intron	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	135				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015).	blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.E130*(2)|p.E135*(2)|p.E130Q(1)|p.E135Q(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGGGGTTTCTCAACTTTATCT	0.507000													43	120					2.59497e-14	3.47281e-14	0.098360	1	0
ASB15	142685	broad.mit.edu	37	7	123257663	123257663	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:123257663C>A	ENST00000451558.1	+	9	844	c.323C>A	c.(322-324)aCc>aAc	p.T108N	RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.T108N|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.T108N|ASB15_ENST00000540573.1_Missense_Mutation_p.T108N|ASB15_ENST00000434204.1_Missense_Mutation_p.T108N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	108					intracellular signal transduction			p.T108K(4)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAATTCAAGACCTGTGATGGA	0.383000													65	151					6.20995e-33	1.10347e-32	0.139131	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51914385	51914385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51914385G>A	ENST00000353836.5	-	10	1998	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q630*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q545*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q688*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q503*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q445*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q535*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q510*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	688					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Q688*(2)|p.Q630*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAATCCGCCTGGGTGCCCTTG	0.562000													53	108					0	0	0.139131	0	0
GABRR1	2569	broad.mit.edu	37	6	89895078	89895078	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:89895078G>A	ENST00000435811.1	-	6	1150	c.696C>T	c.(694-696)ctC>ctT	p.L232L	GABRR1_ENST00000369451.3_Silent_p.L162L|GABRR1_ENST00000454853.2_Silent_p.L249L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	249					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.L243L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATTCCTGAATGAGGAACTGGG	0.488000													17	255					0	0	0.160694	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963931	88963931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:88963931G>T	ENST00000333190.4	+	4	2244	c.1635G>T	c.(1633-1635)tgG>tgT	p.W545C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	545						intracellular	zinc ion binding	p.W545C(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCGGATTGGGAAAAATTCC	0.353000										HNSCC(36;0.09)			43	101					1.00001e-27	1.67526e-27	0.111260	1	0
AHNAK	79026	broad.mit.edu	37	11	62293287	62293287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:62293287C>A	ENST00000378024.4	-	5	8876	c.8602G>T	c.(8602-8604)Gaa>Taa	p.E2868*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2868					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCAACTTCAGGACCTTTC	0.463000													9	354					2.17888e-05	2.35592e-05	0.058154	1	0
ATP1A3	478	broad.mit.edu	37	19	42471882	42471882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:42471882C>A	ENST00000545399.1	-	21	3045	c.2892G>T	c.(2890-2892)gaG>gaT	p.E964D	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E921D|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E962D|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E951D	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	951					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E951D(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGCCGTCTCCTCAAACA	0.667000													15	29					3.32936e-07	3.73437e-07	0.175082	1	0
B3GNT7	93010	broad.mit.edu	37	2	232262811	232262811	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:232262811G>C	ENST00000287590.5	+	2	642	c.381G>C	c.(379-381)ccG>ccC	p.P127P	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	127					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.P127P(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGAACCACCCGGAGAAGTGCA	0.647000													10	21					0	0	0.204396	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			168	366					0	0	0.139131	0	0
IGKV3D-15	28875	broad.mit.edu	37	2	90154121	90154121	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:90154121G>T	ENST00000417279.2	+	0	257																											CCTCATCTATGGTGCATCCAC	0.582000													26	75					2.19489e-29	3.74667e-29	0.086207	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734882	176734882	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:176734882C>G	ENST00000367662.3	+	15	5396	c.4232C>G	c.(4231-4233)tCt>tGt	p.S1411C		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1411	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1411C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACTGTACCTCTATAGGCCCA	0.517000													8	371					0	0	0.038147	0	0
MMP9	4318	broad.mit.edu	37	20	44637627	44637627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:44637627C>T	ENST00000372330.3	+	1	81	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	21					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.P21L(2)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGCTGCCCCCAGACAGCGC	0.617000													17	34					0	0	0.146539	0	0
HNF4G	3174	broad.mit.edu	37	8	76472700	76472700	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:76472700C>A	ENST00000396423.2	+	9	1339	c.1216_splice	c.e9+1	p.I405_splice	HNF4G_ENST00000354370.1_Splice_Site_p.I368_splice	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	368					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.I405I(2)|p.I368I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGACCAGATCTGTAAGTTTA	0.363000													20	148					6.33239e-15	8.57251e-15	0.055883	1	0
BCAS1	8537	broad.mit.edu	37	20	52591957	52591957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:52591957C>G	ENST00000395961.3	-	8	1319	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H	BCAS1_ENST00000371435.2_Missense_Mutation_p.D385H|BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000434986.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	385						cytoplasm	protein binding	p.D385H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGACTGAGTCCTCTTTAACT	0.403000													13	93					0	0	0.132662	0	0
GARNL3	84253	broad.mit.edu	37	9	130073925	130073925	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:130073925C>G	ENST00000373387.4	+	3	582	c.230C>G	c.(229-231)gCc>gGc	p.A77G	GARNL3_ENST00000314904.5_Missense_Mutation_p.A77G|GARNL3_ENST00000435213.2_Missense_Mutation_p.A55G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	77					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.A59G(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATGCAACTGCCCTGCCTGGT	0.413000													16	150					0	0	0.132662	0	0
MXRA5	25878	broad.mit.edu	37	X	3241316	3241316	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:3241316A>C	ENST00000217939.6	-	5	2564	c.2410T>G	c.(2410-2412)Ttg>Gtg	p.L804V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	804						extracellular region		p.L804V(4)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTTTAATCAATGGGGGTACT	0.473000													13	157					0	0	0.119110	0	0
SOX5	6660	broad.mit.edu	37	12	23999036	23999036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:23999036C>A	ENST00000546136.1	-	2	325	c.323G>T	c.(322-324)gGc>gTc	p.G108V	SOX5_ENST00000545921.1_Missense_Mutation_p.G111V|SOX5_ENST00000381381.2_Missense_Mutation_p.G108V|SOX5_ENST00000541847.1_Missense_Mutation_p.G111V|SOX5_ENST00000441133.2_Missense_Mutation_p.G86V|SOX5_ENST00000541536.1_Missense_Mutation_p.G108V|SOX5_ENST00000537393.1_Missense_Mutation_p.G86V|SOX5_ENST00000451604.2_Missense_Mutation_p.G121V|SOX5_ENST00000309359.1_Missense_Mutation_p.G108V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G121V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGACTCGCCACTCTGTCG	0.498000													25	160					1.04121e-07	1.18721e-07	0.108266	1	0
CSMD3	114788	broad.mit.edu	37	8	113668510	113668510	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113668510T>A	ENST00000297405.5	-	18	3121	c.2877A>T	c.(2875-2877)tcA>tcT	p.S959S	CSMD3_ENST00000343508.3_Silent_p.S919S|CSMD3_ENST00000352409.3_Silent_p.S959S|CSMD3_ENST00000455883.2_Silent_p.S855S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	959	CUB 5.					integral to membrane|plasma membrane		p.S919S(2)|p.S959S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGCAAGGGTGACAGAAGAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	162					0	0	0.076483	0	0
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:28476668C>A	ENST00000373857.3	-	2	1499	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PTAFR_ENST00000305392.3_Missense_Mutation_p.D289Y|PTAFR_ENST00000539896.1_Missense_Mutation_p.D289Y	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.D289Y(2)|p.D289H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACAGGGTCTAAGACACAG	0.537000													43	107					5.44703e-19	8.01315e-19	0.111260	1	0
RDH16	8608	broad.mit.edu	37	12	57345827	57345827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:57345827C>A	ENST00000398138.3	-	4	1796	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	314					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.A314S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGAGCCTTGGCCGGGCTTGGA	0.537000													43	62					6.68952e-21	1.01469e-20	0.131918	1	0
C1QB	713	broad.mit.edu	37	1	22986096	22986096	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:22986096C>A	ENST00000509305.1	+	2	487	c.141C>A	c.(139-141)ccC>ccA	p.P47P	C1QB_ENST00000314933.6_Silent_p.P49P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	49	Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.P49P(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTGGCCCCGATGGCCAAC	0.602000													16	38					4.7546e-09	5.59562e-09	0.146539	1	0
ABCA4	24	broad.mit.edu	37	1	94574149	94574149	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:94574149G>T	ENST00000370225.3	-	4	512	c.426C>A	c.(424-426)caC>caA	p.H142Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.H142Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	142					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H142Q(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTCCGGGTGAGTCCGGA	0.498000													41	126					4.44401e-20	6.71476e-20	0.117977	1	0
C16orf3	750	broad.mit.edu	37	16	90095676	90095676	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:90095676C>T	ENST00000408886.2	-	1	633	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	25								p.K25K(1)		large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGAAGGCTTCTTCAGGGTCC	0.642000													12	154					0	0	0.132662	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432940	73432940	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:73432940C>G	ENST00000263666.4	-	10	2891	c.2777G>C	c.(2776-2778)cGc>cCc	p.R926P	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R648P|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R583P|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R583P|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R643P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	926							ubiquitin-protein ligase activity|zinc ion binding	p.R926P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCCGTCGCTGCGGATCTTCAC	0.667000													12	72					0	0	0.093190	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117174	109117174	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:109117174G>C	ENST00000261483.4	+	9	2504	c.1452G>C	c.(1450-1452)tcG>tcC	p.S484S		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	484					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S484S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGGGCCAATCGATGTTCCCTG	0.378000													28	97					0	0	0.116897	0	0
PARP8	79668	broad.mit.edu	37	5	50091127	50091127	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:50091127G>A	ENST00000281631.5	+	12	1462	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	PARP8_ENST00000505697.2_Missense_Mutation_p.S435N|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.S414N|PARP8_ENST00000503750.2_Missense_Mutation_p.S435N|PARP8_ENST00000514342.2_Missense_Mutation_p.S188N|PARP8_ENST00000514067.2_Missense_Mutation_p.S435N	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	435						intracellular	NAD+ ADP-ribosyltransferase activity	p.S435N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTACTCCAGTGCCCCCAAG	0.443000													52	165					0	0	0.139131	0	0
NMUR1	10316	broad.mit.edu	37	2	232393103	232393103	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:232393103C>T	ENST00000305141.4	-	2	762	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.R210Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CACTGGGCCCCGGCAGGGCAC	0.667000													13	24					0	0	0.119110	0	0
ALPK2	115701	broad.mit.edu	37	18	56247124	56247124	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:56247124G>C	ENST00000361673.3	-	4	1097	c.884C>G	c.(883-885)cCc>cGc	p.P295R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	295							ATP binding|protein serine/threonine kinase activity	p.P295R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTGGGCTGGGTTGTTTGTT	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	131					0	0	0.132662	0	0
LMO4	8543	broad.mit.edu	37	1	87797878	87797878	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:87797878C>A	ENST00000370544.5	+	2	960	c.180C>A	c.(178-180)atC>atA	p.I60I	LMO4_ENST00000370542.1_Silent_p.I60I|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	60	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TGGGCGACATCGGCACGTCCT	0.547000													4	116					0.00909568	0.00927791	0.150653	1	0
LAMC1	3915	broad.mit.edu	37	1	183090909	183090909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:183090909G>T	ENST00000258341.4	+	12	2299	c.2042G>T	c.(2041-2043)gGa>gTa	p.G681V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	681	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.G681V(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGGCCTGGAGTCCCTGCA	0.493000													26	94					2.79863e-10	3.39606e-10	0.099896	1	0
DCUN1D1	54165	broad.mit.edu	37	3	182681763	182681763	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:182681763T>C	ENST00000292782.4	-	3	448	c.295A>G	c.(295-297)Agc>Ggc	p.S99G	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.S84G	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	99	DCUN1.					ubiquitin ligase complex	protein binding	p.S99G(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACACTAATGCTGGCTGGATCG	0.418000													18	132					0	0	0.175082	0	0
APOBR	55911	broad.mit.edu	37	16	28509228	28509228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:28509228G>T	ENST00000564831.1	+	2	2899	c.2866G>T	c.(2866-2868)Gca>Tca	p.A956S	APOBR_ENST00000431282.1_Missense_Mutation_p.A947S|APOBR_ENST00000328423.5_Missense_Mutation_p.A947S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	947	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.A947S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCAGGCCCCTGCAGAAGCTGC	0.667000													9	32					4.68919e-08	5.38866e-08	0.069234	1	0
SCRN1	9805	broad.mit.edu	37	7	29980415	29980415	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:29980415C>G	ENST00000426154.1	-	5	798	c.622G>C	c.(622-624)Gct>Cct	p.A208P	SCRN1_ENST00000409497.1_Missense_Mutation_p.A208P|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.A208P	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	208					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A228P(2)|p.A208P(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGGCTCTGAGCGTAACTCCTG	0.527000													79	351					0	0	0.139131	0	0
LRP1B	53353	broad.mit.edu	37	2	142012141	142012141	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:142012141C>A	ENST00000389484.3	-	4	1384	c.413G>T	c.(412-414)tGt>tTt	p.C138F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	138	EGF-like 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCACAGTAACATCTTGTACT	0.323000										TSP Lung(27;0.18)			4	120					0.00116845	0.00121514	0.021553	1	0
ATP4A	495	broad.mit.edu	37	19	36044671	36044671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:36044671G>T	ENST00000262623.3	-	17	2570	c.2542C>A	c.(2542-2544)Cgc>Agc	p.R848S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.R848S(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTTGGGTTGCGTGGACGCAGG	0.607000													7	19					1.06961e-07	1.2184e-07	0.038147	1	0
HEMGN	55363	broad.mit.edu	37	9	100693342	100693342	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:100693342C>A	ENST00000259456.3	-	4	478	c.335G>T	c.(334-336)gGg>gTg	p.G112V		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	112					cell differentiation|multicellular organismal development			p.G112V(2)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTTATGCTCCCAGGTGGCTC	0.423000													16	154					1.52009e-12	1.94965e-12	0.132662	1	0
HOXA2	3199	broad.mit.edu	37	7	27140626	27140626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:27140626G>T	ENST00000222718.5	-	2	1160	c.850C>A	c.(850-852)Ctg>Atg	p.L284M		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	284						nucleus	sequence-specific DNA binding transcription factor activity	p.L284M(2)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AAATGTTTCAGATTTTTCTCA	0.498000													77	191					1.4533e-46	2.75375e-46	0.139131	1	0
GPR139	124274	broad.mit.edu	37	16	20043655	20043655	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:20043655G>T	ENST00000570682.1	-	2	764	c.464C>A	c.(463-465)aCc>aAc	p.T155N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155						integral to membrane|plasma membrane		p.T155N(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGGAAGCAGGTGATGTAAAC	0.522000													39	154					3.33393e-15	4.55016e-15	0.214465	1	0
RNF17	56163	broad.mit.edu	37	13	25356050	25356050	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:25356050G>A	ENST00000255324.5	+	6	631	c.579G>A	c.(577-579)caG>caA	p.Q193Q	RNF17_ENST00000255325.5_Silent_p.Q193Q|RNF17_ENST00000381921.1_Silent_p.Q193Q|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	193					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q193Q(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGGAGAAACAGTTTGACCAAC	0.328000													11	68					0	0	0.069234	0	0
SEPT14	346288	broad.mit.edu	37	7	55929665	55929665	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:55929665G>T	ENST00000388975.3	-	2	141	c.25C>A	c.(25-27)Ccc>Acc	p.P9T	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	9					cell cycle|cell division	septin complex	GTP binding|protein binding	p.P9T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGTGTGGGCATAGCCATT	0.284000													3	28					0.004672	0.00480748	0.115264	1	0
VPS13C	54832	broad.mit.edu	37	15	62264919	62264919	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:62264919T>C	ENST00000261517.5	-	27	2735	c.2662A>G	c.(2662-2664)Act>Gct	p.T888A	VPS13C_ENST00000395896.4_Missense_Mutation_p.T888A|VPS13C_ENST00000395898.3_Missense_Mutation_p.T845A|VPS13C_ENST00000249837.3_Missense_Mutation_p.T845A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	888					protein localization			p.T888A(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTTACAAGTCTGTGGTTCT	0.348000													59	106					0	0	0.139131	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316550	38316550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:38316550G>T	ENST00000450935.2	+	3	508	c.430G>T	c.(430-432)Gca>Tca	p.A144S	SLC22A13_ENST00000311856.4_Silent_p.G236G			Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	314						integral to plasma membrane	organic cation transmembrane transporter activity	p.G236G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCCCTCGGGCAGATGGTGC	0.607000													103	240					1.32035e-51	2.51404e-51	0.139131	1	0
TMEM161B	153396	broad.mit.edu	37	5	87494880	87494880	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:87494880C>A	ENST00000296595.6	-	10	1126	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMEM161B_ENST00000514135.1_Silent_p.L334L|TMEM161B_ENST00000506536.1_Silent_p.L152L|TMEM161B_ENST00000511218.1_Silent_p.L125L|TMEM161B_ENST00000512429.1_Silent_p.L323L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	334						integral to membrane		p.L334L(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATAAGCTTGCAGGTGACTAC	0.423000													28	80					7.07758e-08	8.07782e-08	0.099896	1	0
AMPD2	271	broad.mit.edu	37	1	110168960	110168960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:110168960G>T	ENST00000256578.3	+	5	964	c.604G>T	c.(604-606)Gag>Tag	p.E202*	AMPD2_ENST00000393688.3_Nonsense_Mutation_p.E83*|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.E127*|AMPD2_ENST00000342115.4_Nonsense_Mutation_p.E121*|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Nonsense_Mutation_p.E202*|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.E84*	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	202					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.E202*(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAACAGGGTGAGGGGCAGGG	0.637000													10	58					2.80697e-09	3.32353e-09	0.080935	1	0
DSCAML1	57453	broad.mit.edu	37	11	117387251	117387251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:117387251C>A	ENST00000321322.6	-	8	1895	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E362*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	572	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.E632*(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACAGGTACTCCCCCTCATCC	0.612000													58	79					2.41709e-19	3.59189e-19	0.139131	1	0
VPS35	55737	broad.mit.edu	37	16	46715307	46715307	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:46715307C>G	ENST00000299138.7	-	4	363	c.305G>C	c.(304-306)gGa>gCa	p.G102A		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	102					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.G102A(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GATAATGTTTCCAGCATACTG	0.378000													26	149					0	0	0.091800	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597000													4	62					0	0	0.029380	0	0
INTS2	57508	broad.mit.edu	37	17	59962347	59962347	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:59962347G>A	ENST00000444766.3	-	16	2103	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	INTS2_ENST00000251334.6_Silent_p.P668P	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	676					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.P676P(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AATATGATTTGGGCTTTCTTT	0.353000													12	20					0	0	0.080935	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	126					0	0	0.150653	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617601	54617601	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:54617601A>T	ENST00000302287.3	+	4	778	c.372A>T	c.(370-372)ttA>ttT	p.L124F	VSTM2A_ENST00000404951.1_Missense_Mutation_p.L124F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000407838.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000402613.3_Missense_Mutation_p.L124F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.L123F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	124	Ig-like V-type.					extracellular region		p.L124F(2)|p.L123F(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGAAGGCTTATATGAGTGCA	0.468000													13	46					0	0	0.105934	0	0
TG	7038	broad.mit.edu	37	8	133912549	133912549	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:133912549A>G	ENST00000220616.4	+	15	3438	c.3398A>G	c.(3397-3399)gAa>gGa	p.E1133G	TG_ENST00000377869.1_Missense_Mutation_p.E1133G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1133	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCATCAGGAGAAGAGTTGCGG	0.617000													6	72					0	0	0.021553	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237394	84237394	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:84237394G>T	ENST00000324537.5	+	7	817	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	SH3GL3_ENST00000535412.1_Missense_Mutation_p.G101W|SH3GL3_ENST00000427482.2_Missense_Mutation_p.G101W|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G109W			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	101	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G109W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCTGAAATACGGGAAGGAGCT	0.527000													36	73					6.97489e-18	1.00462e-17	0.214465	1	0
DSCAM	1826	broad.mit.edu	37	21	41725556	41725556	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:41725556C>T	ENST00000400454.1	-	5	1247	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	257	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R257H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCAGCCAGCGGTAATCTGG	0.602000													17	97					0	0	0.160694	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766770	77766770	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:77766770T>C	ENST00000521891.2	+	10	8061	c.7613T>C	c.(7612-7614)aTg>aCg	p.M2538T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M2522T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCCCTACATGATATTTGAC	0.547000										HNSCC(33;0.089)			47	297					0	0	0.131918	0	0
DGKB	1607	broad.mit.edu	37	7	14216490	14216490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:14216490C>A	ENST00000403951.2	-	25	2700	c.2281G>T	c.(2281-2283)Gag>Tag	p.E761*	DGKB_ENST00000407950.1_Nonsense_Mutation_p.E753*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.E761*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.E760*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.E761*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.E761*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.E742*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	761					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.E761*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATCCATGGCTCCCCATCAATT	0.393000													127	285					6.6411e-63	1.29396e-62	0.139131	1	0
ZMYND11	10771	broad.mit.edu	37	10	294355	294355	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:294355T>C	ENST00000397962.3	+	13	1735	c.1307T>C	c.(1306-1308)gTg>gCg	p.V436A	ZMYND11_ENST00000381591.1_Missense_Mutation_p.V436A|ZMYND11_ENST00000397959.3_Missense_Mutation_p.V351A|ZMYND11_ENST00000403354.1_Missense_Mutation_p.V356A|ZMYND11_ENST00000545619.1_Missense_Mutation_p.V316A|ZMYND11_ENST00000381602.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000558098.2_Missense_Mutation_p.V436A|ZMYND11_ENST00000402736.1_Missense_Mutation_p.V405A|ZMYND11_ENST00000509513.2_Missense_Mutation_p.V435A|ZMYND11_ENST00000602682.1_Missense_Mutation_p.V351A|ZMYND11_ENST00000381584.1_Missense_Mutation_p.V419A|ZMYND11_ENST00000535374.1_Missense_Mutation_p.V231A|ZMYND11_ENST00000309776.4_Missense_Mutation_p.V396A|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381607.4_Missense_Mutation_p.V342A|ZMYND11_ENST00000381604.4_Missense_Mutation_p.V396A			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	396	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V436A(4)|p.V396A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAAGTCTCCGTGTCAACTCAG	0.498000													44	101					0	0	0.104719	0	0
KATNAL1	84056	broad.mit.edu	37	13	30801606	30801606	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:30801606T>C	ENST00000380615.3	-	9	1257	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I364V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	364						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.I364V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTCATCAATGTCCCACGGG	0.378000													16	90					0	0	0.175082	0	0
ISOC1	51015	broad.mit.edu	37	5	128440942	128440942	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:128440942G>A	ENST00000173527.5	+	3	510	c.494G>A	c.(493-495)gGg>gAg	p.G165E		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	165						peroxisome	catalytic activity	p.G165E(2)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		AAAGGTCTTGGGAGCACGGTT	0.383000													32	86					0	0	0.153744	0	0
ABCA13	154664	broad.mit.edu	37	7	48452087	48452087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:48452087G>T	ENST00000435803.1	+	41	12390	c.12366G>T	c.(12364-12366)aaG>aaT	p.K4122N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4122					transport	integral to membrane	ATP binding|ATPase activity	p.K4067N(2)|p.K4122N(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGACAAGGCCTGCTTGA	0.493000													34	158					4.39465e-27	7.24807e-27	0.173368	1	0
DNER	92737	broad.mit.edu	37	2	230341871	230341871	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:230341871A>G	ENST00000341772.4	-	7	1380	c.1246T>C	c.(1246-1248)Tgc>Cgc	p.C416R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	416	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C416R(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGACACTGGCAGGTGAATCCA	0.378000													7	49					0	0	0.125774	0	0
OR2G2	81470	broad.mit.edu	37	1	247752128	247752128	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247752128T>C	ENST00000320065.1	+	1	467	c.467T>C	c.(466-468)aTa>aCa	p.I156T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I156T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCAGTGGAATAGCCACCACC	0.547000													136	370					0	0	0.139131	0	0
PPM1E	22843	broad.mit.edu	37	17	57043137	57043137	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:57043137C>A	ENST00000308249.2	+	3	795	c.666C>A	c.(664-666)ctC>ctA	p.L222L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	231					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACTTCCCCCTCCGCAGGAGAC	0.453000													15	454					7.93312e-07	8.8305e-07	0.119110	1	0
FER1L6	654463	broad.mit.edu	37	8	125110055	125110055	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:125110055C>A	ENST00000522917.1	+	37	5020	c.4814C>A	c.(4813-4815)aCt>aAt	p.T1605N	FER1L6_ENST00000399018.1_Missense_Mutation_p.T1605N|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1605	C2 6.					integral to membrane		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCTGGAACACTGAAGATGTC	0.418000													65	94					3.58576e-35	6.45989e-35	0.139131	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:47846506C>G	ENST00000339488.4	-	3	2107	c.2074G>C	c.(2074-2076)Gtc>Ctc	p.V692L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	692						integral to membrane	hedgehog receptor activity	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453000													17	67					0	0	0.146539	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749428	62749428	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:62749428T>A	ENST00000377871.3	-	4	949	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	SLC22A6_ENST00000458333.2_Missense_Mutation_p.Y228F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.Y228F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.Y228F|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	228					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Y228F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGTAGACATAGCCAATCAA	0.592000													13	49					0	0	0.119110	0	0
MYOM3	127294	broad.mit.edu	37	1	24421441	24421441	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:24421441A>T	ENST00000330966.7	-	9	995	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	MYOM3_ENST00000329601.7_Missense_Mutation_p.L277Q|MYOM3_ENST00000374434.3_Missense_Mutation_p.L277Q|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	277	Ig-like C2-type 2.							p.L277Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTGGCTTCAGCACCGAGGT	0.537000													7	60					0	0	0.029380	0	0
CHI3L2	1117	broad.mit.edu	37	1	111770280	111770280	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:111770280G>T	ENST00000445067.2	+	3	700		c.e3-1		CHI3L2_ENST00000369748.4_Intron|CHI3L2_ENST00000369744.2_5'UTR			Q15782	CH3L2_HUMAN	chitinase 3-like 2						chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CTTTCGTGTAGGACAGGCTGT	0.493000													23	52					1.39806e-14	1.87528e-14	0.134883	1	0
NUP43	348995	broad.mit.edu	37	6	150067678	150067678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:150067678C>A	ENST00000367403.3	-	1	136	c.137G>T	c.(136-138)cGc>cTc	p.R46L	NUP43_ENST00000340413.2_5'UTR|NUP43_ENST00000463048.3_Intron			Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	0					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GCACAGTACGCGCCTCTCAGC	0.552000											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	68					2.80507e-11	3.4944e-11	0.163468	1	0
LSAMP	4045	broad.mit.edu	37	3	115805319	115805319	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:115805319C>A	ENST00000490035.1	-	2	739	c.240G>T	c.(238-240)ctG>ctT	p.L80L	LSAMP_ENST00000539563.1_Silent_p.L77L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.L80L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCCGTGGGTCCAGAGACCACT	0.502000													26	115					3.65163e-15	4.97795e-15	0.116897	1	0
AP2A2	161	broad.mit.edu	37	11	1009345	1009345	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:1009345A>T	ENST00000448903.2	+	20	2696	c.2555A>T	c.(2554-2556)cAg>cTg	p.Q852L	AP2A2_ENST00000332231.5_Missense_Mutation_p.Q853L|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	852					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.Q853L(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGGAAGTGCAGAACATCTTC	0.577000													14	38					0	0	0.119110	0	0
PDZD9	255762	broad.mit.edu	37	16	21999929	21999929	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:21999929A>C	ENST00000286143.6	-	4	530	c.209T>G	c.(208-210)gTa>gGa	p.V70G	PDZD9_ENST00000537222.2_Missense_Mutation_p.V72G|PDZD9_ENST00000424898.2_Missense_Mutation_p.V132G			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	132	PDZ.							p.V70G(2)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TTACCTTGTTACTGGGAATTT	0.343000													35	98					0	0	0.092188	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481082	27481082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:27481082C>T	ENST00000233535.4	-	3	723	c.371G>A	c.(370-372)tGg>tAg	p.W124*	SLC30A3_ENST00000447008.2_Nonsense_Mutation_p.W119*	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	124					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	p.W124*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGAGCCAGAGGGAGAA	0.637000													29	73					0	0	0.144211	0	0
KCTD7	154881	broad.mit.edu	37	7	66264318	66264318	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:66264318G>T	ENST00000380828.2	+	9	1011	c.857G>T	c.(856-858)cGc>cTc	p.R286L	RABGEF1_ENST00000437078.2_Missense_Mutation_p.R260L|KCTD7_ENST00000451741.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R259L|KCTD7_ENST00000510829.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R246L|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R246L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R246L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGAGCCCTGCGCTGGGTTACG	0.493000													23	58					7.87624e-14	1.04098e-13	0.076483	1	0
SKAP2	8935	broad.mit.edu	37	7	26779578	26779578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:26779578G>A	ENST00000345317.2	-	5	626	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	105					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.Q105*(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGAGGAAACTGGGCTCCTATG	0.388000													12	71					0	0	0.105934	0	0
IL27RA	9466	broad.mit.edu	37	19	14153294	14153294	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:14153294G>T	ENST00000263379.2	+	5	689	c.564G>T	c.(562-564)ctG>ctT	p.L188L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	188	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.L188L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCATACCCCTGACCCCTGTTG	0.547000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	236					1.12176e-53	2.15342e-53	0.139131	1	0
PDILT	204474	broad.mit.edu	37	16	20380897	20380897	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:20380897C>A	ENST00000302451.4	-	8	1281	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	345					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.A345S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGTACCTGGCGTCAGAGCTC	0.468000													62	264					2.22609e-26	3.6458e-26	0.139131	1	0
NEGR1	257194	broad.mit.edu	37	1	72400910	72400910	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:72400910C>A	ENST00000357731.4	-	2	500	c.261G>T	c.(259-261)gtG>gtT	p.V87V	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Silent_p.V85V|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	87	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane		p.V87V(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTCGAGGATCCACTGACCACT	0.433000													35	123					1.90571e-15	2.61004e-15	0.203993	1	0
ATP2A1	487	broad.mit.edu	37	16	28898990	28898990	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:28898990C>T	ENST00000395503.4	+	8	1059	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ATP2A1_ENST00000536376.1_Missense_Mutation_p.A167V|ATP2A1_ENST00000357084.3_Missense_Mutation_p.A292V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	292					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.A292V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TTCCGCGGGGCCATCTACTAC	0.547000													24	221					0	0	0.108266	0	0
SNHG14	104472715	broad.mit.edu	37	15	25448271	25448271	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:25448271T>C	ENST00000424208.1	+	0	2117				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCTGGTGTGCTGAAGCTCAGG	0.647000													18	55					0	0	0.175082	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999351	27999351	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:27999351G>T	ENST00000441525.1	-	1	215	c.101C>A	c.(100-102)gCg>gAg	p.A34E		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	34								p.A34E(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGAGGAGGCCGCCGTCACCGC	0.562000													14	10					1.55469e-16	2.1803e-16	0.083992	1	0
PRSS12	8492	broad.mit.edu	37	4	119216985	119216985	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:119216985T>A	ENST00000296498.3	-	10	2146	c.1864A>T	c.(1864-1866)Aga>Tga	p.R622*	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	622	Zymogen activation region.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TGCAGTAATCTCAAGCCACAA	0.378000													4	115					0	0	0.021553	0	0
SPTBN1	6711	broad.mit.edu	37	2	54893182	54893182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:54893182G>T	ENST00000356805.4	+	34	7071	c.6790G>T	c.(6790-6792)Gtg>Ttg	p.V2264L		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2264	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.V2264L(2)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCTGCGAAGTGGCCCTTGA	0.468000													42	281					9.58827e-17	1.34788e-16	0.139131	1	0
COL27A1	85301	broad.mit.edu	37	9	117027389	117027389	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:117027389C>T	ENST00000356083.3	+	31	3729	c.3339_splice	c.e31+1	p.P1113_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1113	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1113L(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGCTTTCCTGTAAGTAGC	0.547000													50	183					0	0	0.139131	0	0
CD5L	922	broad.mit.edu	37	1	157803126	157803126	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:157803126T>A	ENST00000368174.4	-	5	991	c.895A>T	c.(895-897)Aaa>Taa	p.K299*		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	299	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.K299*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATAGCATTTCCGGTCTCTG	0.577000													79	216					0	0	0.139131	0	0
TRAV22	28661	broad.mit.edu	37	14	22539228	22539228	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22539228G>T	ENST00000390450.3	+	0	221																											GAGTCCTCCAGACCTGATTCT	0.463000													33	90					1.57351e-24	2.51376e-24	0.193644	1	0
PLCE1	51196	broad.mit.edu	37	10	96005858	96005858	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:96005858A>G	ENST00000260766.3	+	8	3210	c.2576A>G	c.(2575-2577)cAg>cGg	p.Q859R	PLCE1_ENST00000371385.3_Missense_Mutation_p.Q551R|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q551R|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q859R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	859					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q551R(2)|p.Q859R(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATGTGCACCAGTTCCTGCTG	0.587000													35	65					0	0	0.131918	0	0
FAM120A	23196	broad.mit.edu	37	9	96318676	96318676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:96318676G>T	ENST00000277165.6	+	13	2481	c.2287G>T	c.(2287-2289)Gat>Tat	p.D763Y	FAM120A_ENST00000340893.4_Missense_Mutation_p.D763Y|FAM120A_ENST00000333936.5_Missense_Mutation_p.D791Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	763						cytoplasm|plasma membrane	RNA binding	p.D763Y(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGAACCTAGATCCCCGAGG	0.388000													16	247					1.99824e-07	2.25645e-07	0.160694	1	0
TTN	7273	broad.mit.edu	37	2	179592523	179592523	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179592523C>T	ENST00000589042.1	-	68	20006	c.19782G>A	c.(19780-19782)aaG>aaA	p.K6594K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.K5350K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.K6277K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6277	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K5350K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTATTGCCTTAAATTCCA	0.373000													59	129					0	0	0.139131	0	0
TCEA2	6919	broad.mit.edu	37	20	62697832	62697832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:62697832G>T	ENST00000395053.3	+	2	231	c.76G>T	c.(76-78)Gga>Tga	p.G26*	TCEA2_ENST00000361317.2_5'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Nonsense_Mutation_p.G26*			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	26	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	p.G26*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTTCCAGGAGGGAGCCATGGA	0.557000													24	239					9.80776e-20	1.47054e-19	0.116897	1	0
KIAA1109	84162	broad.mit.edu	37	4	123260563	123260563	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:123260563G>T	ENST00000264501.4	+	72	12725	c.12352_splice	c.e72+1	p.G4118_splice	KIAA1109_ENST00000388738.3_Splice_Site_p.G4118_splice			Q2LD37	K1109_HUMAN	KIAA1109	4118	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G4118C(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATACCAGGTATAGATAA	0.313000													28	107					2.4375e-19	3.61305e-19	0.125774	1	0
AGO3	192669	broad.mit.edu	37	1	36437711	36437711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:36437711G>T	ENST00000373191.4	+	4	748	c.399G>T	c.(397-399)tgG>tgT	p.W133C	AGO3_ENST00000397828.2_Missense_Mutation_p.W133C|AGO3_ENST00000324350.5_Missense_Mutation_p.W133C|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3									p.W133C(2)									GGGTGAGTTGGCACCTACTGC	0.483000													15	102					1.05317e-09	1.26359e-09	0.119110	1	0
MMEL1	79258	broad.mit.edu	37	1	2537711	2537711	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:2537711C>T	ENST00000288709.6	-	8	939	c.699G>A	c.(697-699)caG>caA	p.Q233Q	MMEL1_ENST00000378412.3_Silent_p.Q242Q|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	242					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.Q233Q(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCTGGAGTTCTGGTCGTCGT	0.642000													20	82					0	0	0.069288	0	0
RBBP6	5930	broad.mit.edu	37	16	24578506	24578506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:24578506G>C	ENST00000319715.4	+	15	2064	c.1632G>C	c.(1630-1632)agG>agC	p.R544S	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.R544S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R544S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GATCACAGAGGACTCAAGGCC	0.478000													29	156					0	0	0.173368	0	0
GABRE	2564	broad.mit.edu	37	X	151131077	151131077	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:151131077G>A	ENST00000393914.3	-	0	604				GABRE_ENST00000370325.1_Silent_p.Y127Y|GABRE_ENST00000370328.3_Silent_p.Y127Y			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y14Y(2)|p.Y127Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCGTTCGTCGTACCAGGTCT	0.463000													13	164					0	0	0.119110	0	0
RAG1	5896	broad.mit.edu	37	11	36597537	36597537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:36597537G>T	ENST00000299440.5	+	2	2795	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	895					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V895L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGAAACCAGTATGGCGATC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				26	151					1.42536e-11	1.79279e-11	0.099896	1	0
MYH14	79784	broad.mit.edu	37	19	50779265	50779265	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:50779265G>C	ENST00000440075.2	+	28	3532	c.3485G>C	c.(3484-3486)gGg>gCg	p.G1162A	MYH14_ENST00000262269.8_Missense_Mutation_p.G1162A|MYH14_ENST00000425460.1_Missense_Mutation_p.G1129A|MYH14_ENST00000598205.1_Missense_Mutation_p.G1129A|MYH14_ENST00000601313.1_Missense_Mutation_p.G1162A|MYH14_ENST00000596571.1_Missense_Mutation_p.G1121A|MYH14_ENST00000376970.2_Missense_Mutation_p.G1154A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1121					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.G1121A(2)|p.G1162A(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGAGGGTGGGGCCCGGGCC	0.647000													5	33					0	0	0.038147	0	0
HOXA1	3198	broad.mit.edu	37	7	27135327	27135327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:27135327G>T	ENST00000343060.4	-	1	266	c.205C>A	c.(205-207)Cac>Aac	p.H69N	HOXA1_ENST00000355633.5_Missense_Mutation_p.H69N|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	69	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H69N(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggtggtggtggtggtggtgg	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	66					4.87955e-14	6.50052e-14	0.108266	1	0
INTU	27152	broad.mit.edu	37	4	128632153	128632153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:128632153G>T	ENST00000335251.5	+	14	2558	c.2455G>T	c.(2455-2457)Gag>Tag	p.E819*		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	819								p.E819*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TACCCTTGAAGAGGTGGCACA	0.418000													44	123					9.14704e-12	1.15547e-11	0.104719	1	0
OR1N2	138882	broad.mit.edu	37	9	125315646	125315646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:125315646C>G	ENST00000373688.2	+	1	256	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I66M(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGGCCATCAGCTCTGACC	0.527000													20	214					0	0	0.062417	0	0
NUGGC	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:27927077C>T	ENST00000413272.2	-	4	383	c.241G>A	c.(241-243)Gga>Aga	p.G81R	NUGGC_ENST00000341513.6_Missense_Mutation_p.G81R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.G81R(4)									TACTTGACTCCATTAGGGATG	0.413000													21	97					0	0	0.055883	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													5	16					0	0	0.029380	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914953	94914953	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:94914953G>T	ENST00000334708.3	-	2	223	c.159C>A	c.(157-159)acC>acA	p.T53T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	53					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T235T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AATTGGTAATGGTGGGTGTGA	0.572000													96	263					3.0784e-53	5.8902e-53	0.139131	1	0
EXOC5	10640	broad.mit.edu	37	14	57684713	57684713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:57684713T>G	ENST00000413566.2	-	15	1959	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	EXOC5_ENST00000340918.7_Missense_Mutation_p.T469P	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	534					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		p.T536P(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCAATGCCAGTATCCAATTTC	0.289000													13	81					0	0	0.105934	0	0
OR4L1	122742	broad.mit.edu	37	14	20528425	20528425	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:20528425C>T	ENST00000315683.1	+	1	222	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S74S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGTCTCTCCACTGCCACAA	0.453000													41	322					0	0	0.092188	0	0
STAG2	10735	broad.mit.edu	37	X	123156495	123156495	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:123156495A>T	ENST00000371160.1	+	3	308	c.18A>T	c.(16-18)gaA>gaT	p.E6D	STAG2_ENST00000218089.9_Missense_Mutation_p.E6D|STAG2_ENST00000371144.3_Missense_Mutation_p.E6D|STAG2_ENST00000371157.3_Missense_Mutation_p.E6D|STAG2_ENST00000371145.3_Missense_Mutation_p.E6D|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_5'UTR			Q8N3U4	STAG2_HUMAN	stromal antigen 2	6					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.E6D(4)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGCTCCAGAAATACCAACTG	0.308000													15	33					0	0	0.146539	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266601	113266601	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:113266601C>T	ENST00000369630.3	+	4	517	c.300C>T	c.(298-300)gaC>gaT	p.D100D	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region		p.D100D(2)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCGTAGAGACCCTAGAGCTG	0.607000													12	141					0	0	0.119110	0	0
SPEF2	79925	broad.mit.edu	37	5	35779450	35779450	+	Splice_Site	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:35779450T>G	ENST00000440995.2	+	30	4432		c.e30+2		SPEF2_ENST00000356031.3_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACCTAAAGGTAGGAAAAATA	0.388000													6	202					0	0	0.029380	0	0
PDS5B	23047	broad.mit.edu	37	13	33320130	33320130	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:33320130A>T	ENST00000315596.10	+	24	2814	c.2628A>T	c.(2626-2628)tcA>tcT	p.S876S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	876					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.S876S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CAGATATGTCACGTCTGAGAC	0.328000													8	106					0	0	0.160694	0	0
STAP1	26228	broad.mit.edu	37	4	68436840	68436840	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:68436840T>A	ENST00000265404.2	+	2	241	c.159T>A	c.(157-159)acT>acA	p.T53T	STAP1_ENST00000396225.1_Silent_p.T53T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	53	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm		p.T53T(2)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGGAACTACTCTTTTCTTTT	0.308000													88	306					0	0	0.139131	0	0
BRIP1	83990	broad.mit.edu	37	17	59760806	59760806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:59760806T>C	ENST00000259008.2	-	20	3868	c.3601A>G	c.(3601-3603)Att>Gtt	p.I1201V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1201					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.I1201V(4)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTCTTCAATATGCAGAATT	0.303000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					41	78					0	0	0.086207	0	0
OR5D14	219436	broad.mit.edu	37	11	55563649	55563649	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:55563649C>T	ENST00000335605.1	+	1	618	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T206T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GCTTCGCCACCTTCAATGAGA	0.433000													28	360					0	0	0.134883	0	0
TESPA1	9840	broad.mit.edu	37	12	55356793	55356793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:55356793G>A	ENST00000524622.1	-	7	1136	c.475C>T	c.(475-477)Cga>Tga	p.R159*	TESPA1_ENST00000532804.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000449076.1_Nonsense_Mutation_p.R297*|TESPA1_ENST00000531122.1_Nonsense_Mutation_p.R159*|TESPA1_ENST00000316577.8_Nonsense_Mutation_p.R297*	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	297								p.R297*(2)|p.R159*(2)									GGCCGGTCTCGGGGGCATGTG	0.542000													49	68					0	0	0.139131	0	0
DNAH9	1770	broad.mit.edu	37	17	11622751	11622751	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:11622751C>T	ENST00000262442.3	+	27	5721	c.5653C>T	c.(5653-5655)Cgc>Tgc	p.R1885C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1885C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1885	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1885C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTGGGCCGCGCACTGGG	0.627000													4	123					0	0	0.150653	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047196	76047196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:76047196G>A	ENST00000335749.4	+	3	2622	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	TNRC6C_ENST00000588847.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V685M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V685M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	685	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.V685M(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCTTCTGTGAAACAGAC	0.552000													5	12					0	0	0.184627	0	0
LCE3D	84648	broad.mit.edu	37	1	152552407	152552407	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152552407G>T	ENST00000368787.3	-	2	62	c.6C>A	c.(4-6)tcC>tcA	p.S2S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization			p.S2S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TCTGCTGGCAGGACATCTTGG	0.547000													55	177					3.36121e-32	5.92767e-32	0.139131	1	0
SPRR1B	6699	broad.mit.edu	37	1	153005016	153005016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:153005016C>A	ENST00000307098.4	+	2	260	c.195C>A	c.(193-195)tgC>tgA	p.C65*	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C65*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCATGCCACCCCAAGG	0.617000													65	266					3.07184e-27	5.08787e-27	0.139131	1	0
TRPV5	56302	broad.mit.edu	37	7	142625790	142625790	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142625790G>T	ENST00000265310.1	-	6	1106	c.758C>A	c.(757-759)aCt>aAt	p.T253N	TRPV5_ENST00000442623.1_Missense_Mutation_p.T253N	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	253					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.T253N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTTACCACAGTGTTACCCTC	0.577000													17	24					1.99824e-07	2.25645e-07	0.160694	1	0
RP1	6101	broad.mit.edu	37	8	55538014	55538014	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:55538014T>G	ENST00000220676.1	+	4	1720	c.1572T>G	c.(1570-1572)gaT>gaG	p.D524E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	524					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D524E(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACAATGATCAAATGGAGG	0.348000													7	104					0	0	0.058154	0	0
FAM47C	442444	broad.mit.edu	37	X	37027514	37027514	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:37027514C>T	ENST00000358047.3	+	1	1083	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	344								p.P344L(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCACCCAGAGCCTCCC	0.622000													51	86					0	0	0.139131	0	0
FHL1	2273	broad.mit.edu	37	X	135288623	135288623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:135288623G>T	ENST00000543669.1	+	2	743	c.32G>T	c.(31-33)aGg>aTg	p.R11M	FHL1_ENST00000539015.1_Missense_Mutation_p.R40M|FHL1_ENST00000535737.1_Missense_Mutation_p.R11M|FHL1_ENST00000370690.3_Missense_Mutation_p.R11M|FHL1_ENST00000370683.1_Missense_Mutation_p.R27M|FHL1_ENST00000394153.2_Missense_Mutation_p.R11M|FHL1_ENST00000394155.2_Missense_Mutation_p.R11M|FHL1_ENST00000370676.3_Missense_Mutation_p.R27M|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000345434.3_Missense_Mutation_p.R11M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	11					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.R11M(4)|p.R40M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CACTACTGCAGGGATCCCTTG	0.557000													102	158					1.54984e-59	3.00973e-59	0.139131	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616685	77616685	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:77616685A>G	ENST00000521891.2	+	2	810	c.362A>G	c.(361-363)gAc>gGc	p.D121G	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D121G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D121G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D121G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	121						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D121G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTTAGAGGACAGTGACGTG	0.478000										HNSCC(33;0.089)			5	274					0	0	0.021553	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313590	17313590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:17313590C>A	ENST00000452699.1	-	26	3208	c.3019G>T	c.(3019-3021)Gtg>Ttg	p.V1007L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.V968L|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.V1012L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	1012					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.V1012L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACGCCGGTCACCAGGACCATC	0.711000													31	59					1.74807e-11	2.19399e-11	0.153744	1	0
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552000													102	143					1.7666e-45	3.33122e-45	0.139131	1	0
PPP3R2	5535	broad.mit.edu	37	9	104356802	104356802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:104356802G>T	ENST00000374806.1	-	1	481	c.411C>A	c.(409-411)gaC>gaA	p.D137E	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	134	EF-hand 4.						calcium ion binding	p.D137E(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TGATGGTTTTGTCGACCAGCT	0.522000													15	135					4.93089e-13	6.44428e-13	0.119110	1	0
OR13C2	392376	broad.mit.edu	37	9	107367620	107367620	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:107367620A>T	ENST00000542196.1	-	1	331	c.289T>A	c.(289-291)Tgt>Agt	p.C97S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCACTGCACAGCCAGAAAGG	0.532000													12	134					0	0	0.173368	0	0
TDRD6	221400	broad.mit.edu	37	6	46657599	46657599	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:46657599G>T	ENST00000544460.1	+	1	1988	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	TDRD6_ENST00000316081.6_Silent_p.V578V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	578	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.V578V(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGAAAATGTGGACTGGTATG	0.433000													81	234					5.41189e-41	1.00592e-40	0.139131	1	0
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:10448802G>A	ENST00000245503.5	-	5	750	c.366C>T	c.(364-366)ttC>ttT	p.F122F	MYH2_ENST00000397183.2_Silent_p.F122F|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.F122F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	122	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F122F(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTGACACAGAAGAGACCTG	0.453000													51	92					0	0	0.139131	0	0
AGAP1	116987	broad.mit.edu	37	2	236653424	236653424	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:236653424G>T	ENST00000409538.1	+	5	1770	c.1274G>T	c.(1273-1275)aGt>aTt	p.S425I	AGAP1_ENST00000409457.1_Missense_Mutation_p.S160I|AGAP1_ENST00000428334.2_5'UTR|AGAP1_ENST00000336665.5_Missense_Mutation_p.S160I|AGAP1_ENST00000304032.7_Missense_Mutation_p.S160I			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	160	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACTACTACAGTCGAATGGCC	0.478000													7	116					1.26484e-09	1.5129e-09	0.038147	1	0
YIPF7	285525	broad.mit.edu	37	4	44626769	44626769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:44626769C>A	ENST00000332990.5	-	5	545	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	177						endoplasmic reticulum membrane|integral to membrane		p.G177C(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCACTCATGCCATACACATAA	0.478000													3	25					0.014758	0.0150144	0.184627	1	0
AGXT2	64902	broad.mit.edu	37	5	34998886	34998886	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:34998886C>G	ENST00000231420.6	-	14	1683	c.1483G>C	c.(1483-1485)Gat>Cat	p.D495H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	495					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.D495H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACTGCAAAATCAACTTCTGGT	0.358000													5	151					0	0	0.029380	0	0
C7	730	broad.mit.edu	37	5	40964907	40964907	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:40964907T>A	ENST00000313164.9	+	14	2173	c.1814T>A	c.(1813-1815)cTt>cAt	p.L605H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	605	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.L605H(1)					Ovarian(839;0.0112)				GGATACTCTCTTATTGGAAAC	0.393000													7	225					0	0	0.038147	0	0
LZTS2	84445	broad.mit.edu	37	10	102763886	102763886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:102763886G>T	ENST00000370220.1	+	2	4094	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	LZTS2_ENST00000370223.3_Missense_Mutation_p.R344L			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	344					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.R344L(2)|p.R207L(2)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CAGCAGCTGCGGGACAGTCTG	0.622000													36	74					4.67007e-22	7.1673e-22	0.104719	1	0
ISLR	3671	broad.mit.edu	37	15	74467708	74467708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:74467708C>T	ENST00000249842.3	+	2	866	c.509C>T	c.(508-510)aCc>aTc	p.T170I	ISLR_ENST00000395118.1_Missense_Mutation_p.T170I|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	170					cell adhesion	extracellular region		p.T170I(2)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACCCCGCTCACCGCGCTGTCC	0.657000													25	44					0	0	0.083992	0	0
AFF4	27125	broad.mit.edu	37	5	132270357	132270357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:132270357G>A	ENST00000265343.5	-	3	779	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	AFF4_ENST00000378595.3_Nonsense_Mutation_p.Q134*|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	134	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.Q134*(2)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTCCGCTGGCTACTATGT	0.532000													27	67					0	0	0.153744	0	0
HYDIN	54768	broad.mit.edu	37	16	70908208	70908208	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:70908208C>A	ENST00000393567.2	-	64	11098	c.10948_splice	c.e64+1	p.A3650_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3650								p.A3601S(2)|p.A3649S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTCCCACCTGCCACCAAG	0.458000													40	238					2.56175e-15	3.50036e-15	0.139131	1	0
WDR36	134430	broad.mit.edu	37	5	110440497	110440497	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:110440497A>T	ENST00000506538.2	+	9	1749	c.1176A>T	c.(1174-1176)ggA>ggT	p.G392G	WDR36_ENST00000505303.1_Silent_p.G336G|WDR36_ENST00000513710.2_Silent_p.G392G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	392					response to stimulus|rRNA processing|visual perception	small-subunit processome		p.G392G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GACAGAATGGACAGCAGATTC	0.398000													18	307					0	0	0.204396	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067033	18067033	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:18067033T>A	ENST00000506618.2	-	1	453	c.373A>T	c.(373-375)Atc>Ttc	p.I125F		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	125					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.I125F(4)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCCATGGTGATGATATGATCC	0.463000													79	149					0	0	0.139131	0	0
TJAP1	93643	broad.mit.edu	37	6	43472822	43472822	+	Silent	SNP	G	G	A	rs151059106	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:43472822G>A	ENST00000372444.2	+	11	1306	c.873G>A	c.(871-873)ccG>ccA	p.P291P	TJAP1_ENST00000372449.1_Silent_p.P301P|TJAP1_ENST00000372445.5_Silent_p.P301P|TJAP1_ENST00000259751.1_Silent_p.P291P|TJAP1_ENST00000372452.1_Silent_p.P291P|TJAP1_ENST00000436109.2_Silent_p.P291P|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Silent_p.P301P	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	301	Pro-rich.					Golgi apparatus|tight junction	protein binding	p.P291P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGGGCTCCCCGGAGGAAGAGC	0.647000													36	162					0	0	0.080422	0	0
PDZRN3	23024	broad.mit.edu	37	3	73673725	73673725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:73673725G>T	ENST00000263666.4	-	1	366	c.252C>A	c.(250-252)taC>taA	p.Y84*	PDZRN3_ENST00000308537.4_Nonsense_Mutation_p.Y84*|PDZRN3-AS1_ENST00000478988.1_RNA	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	84							ubiquitin-protein ligase activity|zinc ion binding	p.Y84*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGCGCGTCGCGTACGCGCACT	0.716000													3	12					0.115264	0.116357	0.115264	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110478928	110478928	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:110478928C>A	ENST00000378402.5	+	50	8639	c.8535C>A	c.(8533-8535)caC>caA	p.H2845Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2845					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.H2847Q(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGCTTTCACCGTTTAGCGT	0.438000										HNSCC(38;0.096)			28	48					1.17739e-12	1.51342e-12	0.108266	1	0
LRAT	9227	broad.mit.edu	37	4	155670250	155670250	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:155670250G>T	ENST00000336356.3	+	3	908	c.655G>T	c.(655-657)Gca>Tca	p.A219S	LRAT_ENST00000507827.1_Missense_Mutation_p.A219S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	219					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	p.A219S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TACCCTTCCTGCAATTTTTAT	0.393000													89	347					7.15876e-41	1.32641e-40	0.139131	1	0
STEAP4	79689	broad.mit.edu	37	7	87913403	87913403	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:87913403C>T	ENST00000380079.4	-	2	283	c.182G>A	c.(181-183)gGt>gAt	p.G61D	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G61D|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G61D|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	61					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.G61D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GACTTCTGCACCACTGGGCAG	0.438000													39	208					0	0	0.086207	0	0
NDST4	64579	broad.mit.edu	37	4	115773883	115773883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:115773883G>C	ENST00000264363.2	-	8	2492	c.1814C>G	c.(1813-1815)aCa>aGa	p.T605R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	605	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T605R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTTTACCTGTTTTTTGTGG	0.303000													20	56					0	0	0.062417	0	0
CFHR4	10877	broad.mit.edu	37	1	196871741	196871741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:196871741C>A	ENST00000367416.2	+	2	386	c.249C>A	c.(247-249)tgC>tgA	p.C83*	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.C84*|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C83*(2)|p.C84*(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CGGTCCCATGCCTCAGTAAGT	0.348000													69	193					2.34191e-24	3.7362e-24	0.139131	1	0
DFNB31	25861	broad.mit.edu	37	9	117166348	117166348	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:117166348G>T	ENST00000362057.3	-	10	2414	c.2246C>A	c.(2245-2247)aCg>aAg	p.T749K	DFNB31_ENST00000265134.6_Missense_Mutation_p.T366K|DFNB31_ENST00000374059.3_Missense_Mutation_p.T398K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	749					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.T749K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGAGCGTAGAGGCTGC	0.632000													23	46					3.62473e-10	4.38035e-10	0.062417	1	0
PIP4K2B	8396	broad.mit.edu	37	17	36935738	36935738	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:36935738C>T	ENST00000269554.3	-	5	1032	c.552G>A	c.(550-552)ctG>ctA	p.L184L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	184	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	p.L184L(3)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGTACATGCCCAGGAACTGTG	0.517000													38	89					0	0	0.111260	0	0
A1CF	29974	broad.mit.edu	37	10	52580401	52580401	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:52580401C>G	ENST00000395489.2	-	10	1153	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	A1CF_ENST00000374001.1_Missense_Mutation_p.E260Q|A1CF_ENST00000282641.2_Missense_Mutation_p.E260Q|A1CF_ENST00000373993.1_Missense_Mutation_p.E260Q|A1CF_ENST00000373997.3_Missense_Mutation_p.E260Q|A1CF_ENST00000373995.3_Missense_Mutation_p.E268Q|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.E205Q	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	260	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E260Q(2)|p.E268Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCACCCTCTCCACAGCACCT	0.388000													12	101					0	0	0.093190	0	0
TRAV4	28689	broad.mit.edu	37	14	22205254	22205254	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22205254C>A	ENST00000390426.2	+	0	385																											ACTACTGCCTCGTGGGTGACA	0.557000													12	38					7.93312e-07	8.8305e-07	0.119110	1	0
C15orf60	283677	broad.mit.edu	37	15	73852136	73852136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:73852136C>A	ENST00000331090.6	+	6	708	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	C15orf60_ENST00000560581.1_Missense_Mutation_p.S199Y	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	227								p.S227Y(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATGAACAATCTGCATGGGGT	0.463000													43	107					6.5261e-18	9.41141e-18	0.104719	1	0
NLRP3	114548	broad.mit.edu	37	1	247587802	247587802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247587802G>T	ENST00000366497.2	+	4	1837	c.1057G>T	c.(1057-1059)Gtg>Ttg	p.V353L	NLRP3_ENST00000348069.2_Missense_Mutation_p.V353L|NLRP3_ENST00000391828.3_Missense_Mutation_p.V353L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.V353L|NLRP3_ENST00000336119.3_Missense_Mutation_p.V353L|NLRP3_ENST00000391827.2_Missense_Mutation_p.V353L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	353	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V353L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACGAGACCTGTGGCCCTGGA	0.557000													66	187					6.52717e-41	1.2113e-40	0.139131	1	0
KIAA1524	57650	broad.mit.edu	37	3	108278693	108278693	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:108278693C>A	ENST00000295746.8	-	16	2000	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	KIAA1524_ENST00000491772.1_Missense_Mutation_p.D483Y	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	642						cytoplasm|integral to membrane	protein binding	p.D642Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAAAGATCTTGTAGCCTG	0.353000													23	80					6.44725e-10	7.75127e-10	0.069288	1	0
SEMA3A	10371	broad.mit.edu	37	7	83640407	83640407	+	Splice_Site	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:83640407T>C	ENST00000265362.3	-	9	1240	c.925_splice	c.e9-1	p.Q309_splice	SEMA3A_ENST00000436949.1_Splice_Site_p.Q309_splice	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	309	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.Q309R(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAATACATCCTCTGTTTAAAA	0.313000													27	69					0	0	0.099896	0	0
RIMS2	9699	broad.mit.edu	37	8	104943527	104943527	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:104943527A>G	ENST00000507740.1	+	9	1893	c.1657A>G	c.(1657-1659)Ata>Gta	p.I553V	RIMS2_ENST00000436393.2_Missense_Mutation_p.I539V|RIMS2_ENST00000406091.3_Missense_Mutation_p.I761V|RIMS2_ENST00000262231.10_Missense_Mutation_p.I600V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	823					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.I553V(4)|p.I828V(2)|p.I539V(2)|p.I761V(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCACCAATTAATAGTTACAAT	0.338000										HNSCC(12;0.0054)			15	143					0	0	0.146539	0	0
IPO8	10526	broad.mit.edu	37	12	30783888	30783888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:30783888G>T	ENST00000256079.4	-	25	3358	c.3020C>A	c.(3019-3021)gCa>gAa	p.A1007E	IPO8_ENST00000544829.1_Missense_Mutation_p.A802E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.A1007E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCTTCTTTGCCTCTAGCAT	0.398000													44	85					1.76056e-25	2.8436e-25	0.124865	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283669	151283669	+	RNA	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:151283669T>A	ENST00000509345.2	-	0	667																											ATGAATCAAGTCAGCCACCTT	0.498000													7	147					0	0	0.029380	0	0
DIO2	1734	broad.mit.edu	37	14	80669342	80669342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:80669342G>T	ENST00000557010.1	-	4	897	c.512C>A	c.(511-513)gCg>gAg	p.A171E	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A171E|DIO2_ENST00000557125.1_Silent_p.R46R|DIO2_ENST00000555750.1_Missense_Mutation_p.A207E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	171					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.A207E(2)|p.A171E(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCCCGGTATCGCCCAGCCATC	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	84					2.4624e-09	2.92144e-09	0.204396	1	0
ELF1	1997	broad.mit.edu	37	13	41507884	41507884	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:41507884G>C	ENST00000239882.3	-	9	1851	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q489E	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	513					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q513E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAATGGTCTGAACATTGCTA	0.517000													13	127					0	0	0.093190	0	0
SYTL2	54843	broad.mit.edu	37	11	85459316	85459316	+	Splice_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:85459316T>A	ENST00000316356.4	-	3	816	c.253_splice	c.e3+1	p.A84_splice	SYTL2_ENST00000389960.4_Splice_Site_p.A84_splice|SYTL2_ENST00000528231.1_Splice_Site_p.A84_splice|SYTL2_ENST00000527523.1_Splice_Site_p.A36_splice|SYTL2_ENST00000524452.1_Splice_Site_p.A84_splice			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	84					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.A84A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCAACTCACCTGCTATCTGGG	0.468000													92	165					0	0	0.139131	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22555000	22555000	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22555000G>A	ENST00000390451.2	+	0	171																											TGATAGTCCAGAAAGGAGGGA	0.428000													8	64					0	0	0.038147	0	0
TRIM71	131405	broad.mit.edu	37	3	32933145	32933145	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:32933145C>T	ENST00000383763.4	+	4	2512	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	817					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGGAACCATCGGGTACAGAT	0.602000													8	172					0	0	0.069234	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212589	1212589	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:1212589C>T	ENST00000304460.10	+	4	709	c.653C>T	c.(652-654)aCc>aTc	p.T218I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	218					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T218I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCGAGACCACCGGGAAG	0.672000													38	180					0	0	0.086207	0	0
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:117718572G>A	ENST00000317775.6	-	8	2167	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_ENST00000338101.4_Silent_p.D494D|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617000													13	77					0	0	0.132662	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396906	36396906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:36396906C>A	ENST00000317020.6	-	2	619	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	KIAA0895_ENST00000440378.1_Missense_Mutation_p.V107L|KIAA0895_ENST00000338533.5_Missense_Mutation_p.V145L|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000436884.1_Missense_Mutation_p.V7L|KIAA0895_ENST00000415803.2_Missense_Mutation_p.V145L|KIAA0895_ENST00000297063.6_Missense_Mutation_p.V158L|KIAA0895_ENST00000480192.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	158								p.V158L(2)|p.V145L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCTTGTCACAGGCACCAGG	0.473000													58	154					1.17253e-29	2.00443e-29	0.139131	1	0
CNTN2	6900	broad.mit.edu	37	1	205030382	205030382	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:205030382C>A	ENST00000331830.4	+	8	1091	c.807C>A	c.(805-807)ccC>ccA	p.P269P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	269	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P269P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCTGTCCCCCGGATCAAGT	0.652000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	77					2.31682e-05	2.50277e-05	0.132662	1	0
PPM1G	5496	broad.mit.edu	37	2	27605369	27605369	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:27605369G>T	ENST00000344034.4	-	8	1569	c.1305C>A	c.(1303-1305)ttC>ttA	p.F435L	PPM1G_ENST00000350803.4_Missense_Mutation_p.F435L	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	435					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CAATGACCATGAATTCATGGT	0.483000													8	332					0.000157383	0.000166332	0.038147	1	0
MUC17	140453	broad.mit.edu	37	7	100680895	100680895	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:100680895A>C	ENST00000306151.4	+	3	6262	c.6198A>C	c.(6196-6198)acA>acC	p.T2066T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2066	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2066T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.488000													53	264					0	0	0.139131	0	0
SETBP1	26040	broad.mit.edu	37	18	42533120	42533120	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:42533120G>C	ENST00000282030.5	+	4	4111	c.3815G>C	c.(3814-3816)aGc>aCc	p.S1272T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1272						nucleus	DNA binding	p.S1218T(2)|p.S1272T(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGGTGGCAGCACGAGATCA	0.532000									Schinzel-Giedion syndrome				13	45					0	0	0.093190	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162774	33162774	+	RNA	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:33162774A>C	ENST00000510327.1	-	0	346																											AGTCTCCTGGAAGAGCAGTTC	0.453000													13	46					0	0	0.105934	0	0
CTNNA3	29119	broad.mit.edu	37	10	68936738	68936738	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:68936738C>G	ENST00000545309.1	-	7	1051	c.1052G>C	c.(1051-1053)tGt>tCt	p.C351S	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron			Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	801					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						cttttgattacagagctgaaa	0.358000													5	19					0	0	0.029380	0	0
TFPT	29844	broad.mit.edu	37	19	54618637	54618637	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:54618637G>C	ENST00000391759.1	-	1	418	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	TFPT_ENST00000391757.1_Missense_Mutation_p.Q5E	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	5					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	p.Q5E(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CCTTCTCTCTGCTCCAATTCC	0.522000			T	TCF3	pre-B ALL						OREG0003633|OREG0003635	type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	138					0	0	0.058154	0	0
UCMA	221044	broad.mit.edu	37	10	13264144	13264144	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:13264144C>A	ENST00000378681.3	-	5	448	c.376G>T	c.(376-378)Ggc>Tgc	p.G126C	UCMA_ENST00000463405.2_Missense_Mutation_p.G104C	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	126						proteinaceous extracellular matrix		p.G126C(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGGTGCAGGCCGTCATAGTGC	0.587000													12	49					0.00010058	0.000107072	0.093190	1	0
GPR63	81491	broad.mit.edu	37	6	97246908	97246908	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:97246908T>G	ENST00000229955.3	-	2	1045	c.700A>C	c.(700-702)Aca>Cca	p.T234P	GPR63_ENST00000417980.1_Missense_Mutation_p.T234P	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	234						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.T234P(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGATTGGTTGTGTACCCAAAC	0.448000													64	132					0	0	0.139131	0	0
RIMS1	22999	broad.mit.edu	37	6	72806785	72806785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:72806785G>T	ENST00000264839.7	+	3	379	c.379G>T	c.(379-381)Ggg>Tgg	p.G127W	RIMS1_ENST00000521978.1_Missense_Mutation_p.G127W|RIMS1_ENST00000520567.1_Missense_Mutation_p.G127W|RIMS1_ENST00000348717.5_Missense_Mutation_p.G127W|RIMS1_ENST00000517960.1_Missense_Mutation_p.G127W|RIMS1_ENST00000491071.2_Missense_Mutation_p.G127W|RIMS1_ENST00000522291.1_Missense_Mutation_p.G127W|RIMS1_ENST00000518273.1_Missense_Mutation_p.G127W			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	127	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G127W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTTTGCTGATGGGTGCGGTCA	0.507000													21	63					1.96292e-10	2.3869e-10	0.055883	1	0
DIP2C	22982	broad.mit.edu	37	10	409175	409175	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:409175C>T	ENST00000280886.6	-	21	2641	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	DIP2C_ENST00000540204.1_Missense_Mutation_p.E173K|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	852						nucleus	catalytic activity|transcription factor binding	p.E852K(2)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGTCCTCTTCCGTGGAGTCA	0.607000													18	42					0	0	0.189662	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986279	51986279	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51986279G>C	ENST00000396477.4	+	4	703	c.682G>C	c.(682-684)Gac>Cac	p.D228H	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D289H	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	289						integral to membrane		p.D289H(2)|p.D228H(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGGGCCCGACTATGTGCT	0.552000													97	222					0	0	0.139131	0	0
KLHL6	89857	broad.mit.edu	37	3	183209920	183209920	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:183209920G>C	ENST00000341319.3	-	7	1696	c.1661C>G	c.(1660-1662)gCg>gGg	p.A554G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	554								p.A554G(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTGCAGGGCGCGATACCGCA	0.657000													20	68					0	0	0.153744	0	0
SMC1B	27127	broad.mit.edu	37	22	45802673	45802673	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:45802673T>A	ENST00000357450.4	-	3	371	c.372A>T	c.(370-372)atA>atT	p.I124I	SMC1B_ENST00000404354.3_Silent_p.I124I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	124					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.I124I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATTATGCCTATCTTTTCCA	0.299000													38	90					0	0	0.098360	0	0
CSMD3	114788	broad.mit.edu	37	8	113299394	113299394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113299394G>A	ENST00000297405.5	-	58	9474	c.9230C>T	c.(9229-9231)aCt>aTt	p.T3077I	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3037I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3007I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2908I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3077	Sushi 22.					integral to membrane|plasma membrane		p.T3037I(1)|p.T3077I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAACGTACAGTACTTTTAGT	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	333					0	0	0.038147	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33631016	33631016	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:33631016G>A	ENST00000504830.1	-	13	2226	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	631	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H631Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACAAGGATGTGCTGAAGGG	0.488000										HNSCC(64;0.19)			7	150					0	0	0.038147	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049651	69049651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:69049651C>A	ENST00000295381.3	+	10	1796	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S460R|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S453R|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S452R|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.S420R|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.S153R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S453R(2)|p.S460R(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCCAACAGCAGCAAAATGG	0.478000													36	188					2.47316e-13	3.23583e-13	0.183431	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181997	140181997	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140181997C>T	ENST00000522353.2	+	1	1215	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	PCDHA3_ENST00000532566.2_Silent_p.Y405Y|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.Y405Y(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATTACTACTCATTGGTGC	0.627000													94	175					0	0	0.139131	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89196831	89196831	+	RNA	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:89196831C>G	ENST00000390244.2	+	0	84																											AGGTTCACCTCCTCAGCTTCC	0.453000													9	38					0	0	0.069234	0	0
SAPCD2	89958	broad.mit.edu	37	9	139959973	139959973	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:139959973C>T	ENST00000409687.3	-	3	959		c.e3+1			NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2							cytoplasm|nucleus		p.?(1)									GTGGCACTCACGGCGCTGGCT	0.682000													8	57					0	0	0.058154	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505620	44505620	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:44505620C>T	ENST00000255152.2	+	2	632	c.423C>T	c.(421-423)gcC>gcT	p.A141A	ZSWIM3_ENST00000454862.2_Silent_p.A135A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	141							zinc ion binding	p.A141A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTGACACTGCCGAGAAGTCCC	0.517000													13	93					0	0	0.093190	0	0
GMEB1	10691	broad.mit.edu	37	1	29041146	29041146	+	Missense_Mutation	SNP	C	C	T	rs148243859		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:29041146C>T	ENST00000373816.1	+	10	1691	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	GMEB1_ENST00000361872.4_Missense_Mutation_p.P518L|GMEB1_ENST00000294409.2_Missense_Mutation_p.P528L|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	p.P518L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGCCCCGGACCCAGAA	0.532000													19	128					0	0	0.175082	0	0
OR4D5	219875	broad.mit.edu	37	11	123810656	123810656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:123810656G>T	ENST00000307033.2	+	1	407	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K111N(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGGCATCAAGATCTTCCTGC	0.498000													77	141					1.42344e-19	2.12879e-19	0.139131	1	0
INSL5	10022	broad.mit.edu	37	1	67266839	67266839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:67266839G>T	ENST00000304526.2	-	1	100	c.66C>A	c.(64-66)agC>agA	p.S22R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	22						extracellular region	hormone activity	p.S22R(2)		breast(2)|endometrium(1)|lung(5)	8						CAGACTCCTTGCTCCGCACTT	0.463000													36	97					6.84511e-11	8.42863e-11	0.183431	1	0
FUT8	2530	broad.mit.edu	37	14	66135974	66135974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:66135974G>C	ENST00000360689.5	+	7	2338	c.611G>C	c.(610-612)tGc>tCc	p.C204S	FUT8_ENST00000394586.2_Missense_Mutation_p.C204S|FUT8_ENST00000557164.1_Missense_Mutation_p.C41S|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000358307.2_Missense_Mutation_p.C75S|FUT8_ENST00000394585.1_Missense_Mutation_p.C204S	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	204					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.C204S(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCAAGGACTGCAGCAAAGCC	0.408000													33	56					0	0	0.173368	0	0
SPTBN2	6712	broad.mit.edu	37	11	66478225	66478225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:66478225T>A	ENST00000533211.1	-	10	1232	c.901A>T	c.(901-903)Atg>Ttg	p.M301L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.M301L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.M301L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	301					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.M301L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTGCCTCCATGGCATGGTCC	0.632000													11	87					0	0	0.132662	0	0
C8B	732	broad.mit.edu	37	1	57409484	57409484	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:57409484G>T	ENST00000543257.1	-	9	1529	c.963C>A	c.(961-963)aaC>aaA	p.N321K	C8B_ENST00000535057.1_Missense_Mutation_p.N311K|C8B_ENST00000371237.4_Missense_Mutation_p.N373K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	373	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.N373K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATGGACGTTGTTAAGAGTAT	0.438000													19	135					1.67942e-08	1.94905e-08	0.175082	1	0
IPO8	10526	broad.mit.edu	37	12	30837234	30837234	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:30837234C>A	ENST00000256079.4	-	3	662		c.e3+1			NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCACCACATACCTCACTAAAT	0.398000													43	122					3.76604e-16	5.23135e-16	0.117977	1	0
PALD1	27143	broad.mit.edu	37	10	72293678	72293678	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:72293678G>T	ENST00000263563.6	+	8	1139	c.870_splice	c.e8-1	p.E291_splice		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.E291*(2)									TCTTTCCCAGGAGACCCCCAG	0.652000													9	93					4.68919e-08	5.38866e-08	0.069234	1	0
FAM65B	9750	broad.mit.edu	37	6	24843104	24843104	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:24843104C>G	ENST00000259698.4	-	14	2081	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	FAM65B_ENST00000538035.1_Missense_Mutation_p.D615H|FAM65B_ENST00000510784.2_Missense_Mutation_p.D620H|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.D586H|FAM65B_ENST00000540914.1_Missense_Mutation_p.D586H	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	636					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.D586H(2)|p.D636H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGAATATCATCCAAATTCATG	0.343000													29	83					0	0	0.134883	0	0
NUGGC	389643	broad.mit.edu	37	8	27888782	27888782	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:27888782T>C	ENST00000413272.2	-	15	2028	c.1886A>G	c.(1885-1887)aAa>aGa	p.K629R	NUGGC_ENST00000341513.6_Missense_Mutation_p.K629R	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.K629R(4)									GAAATTTTTTTTGCAGCTATC	0.453000													33	162					0	0	0.080422	0	0
ZNF746	155061	broad.mit.edu	37	7	149174740	149174740	+	Silent	SNP	G	G	C	rs145793561	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:149174740G>C	ENST00000340622.3	-	5	907	c.627C>G	c.(625-627)gcC>gcG	p.A209A	ZNF746_ENST00000458143.2_Silent_p.A209A			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	209					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.A209A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTGGCTGCCCGGCTGCCCACG	0.662000													38	72					0	0	0.214465	0	0
CUBN	8029	broad.mit.edu	37	10	17169920	17169920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:17169920G>A	ENST00000377833.4	-	3	321	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CUBN_ENST00000377823.1_Nonsense_Mutation_p.Q86*	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	86					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.Q86*(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTTTTCTGGATCTAATTT	0.284000													12	128					0	0	0.080935	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:40702836C>T	ENST00000356699.5	+	4	522	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L165L(4)|p.L165M(2)									TCCTCAGGATCTGGCCTCCAC	0.587000													86	383					0	0	0.139131	0	0
OR8B12	219858	broad.mit.edu	37	11	124413479	124413479	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:124413479G>T	ENST00000306842.2	-	1	96	c.72C>A	c.(70-72)atC>atA	p.I24I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I24I(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGAAGAGGGGGATCCGCAGTC	0.547000													76	148					9.34078e-37	1.69846e-36	0.139131	1	0
SCN11A	11280	broad.mit.edu	37	3	38936055	38936055	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:38936055T>A	ENST00000450244.1	-	15	3002	c.2804A>T	c.(2803-2805)cAg>cTg	p.Q935L	SCN11A_ENST00000456224.3_Missense_Mutation_p.Q935L|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q935L|SCN11A_ENST00000302328.3_Missense_Mutation_p.Q935L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	935					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q935L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGATGCGCTGTGCATTATC	0.488000													6	408					0	0	0.029380	0	0
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:12880890G>T	ENST00000155926.4	+	3	2421	c.1002G>T	c.(1000-1002)atG>atT	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512000													16	75					3.32936e-07	3.73437e-07	0.175082	1	0
BAGE2	85319	broad.mit.edu	37	21	11039168	11039168	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:11039168G>A	ENST00000470054.1	-	0	1035									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGACACTAAGGTTTCTAGTGG	0.408000													13	542					0	0	0.105934	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690476	77690476	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:77690476C>A	ENST00000521891.2	+	4	3574	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Silent_p.P1016P|ZFHX4_ENST00000455469.2_Silent_p.P1016P|ZFHX4_ENST00000050961.6_Silent_p.P1016P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGAATCCCGAATCCTGCT	0.483000										HNSCC(33;0.089)			111	213					5.27813e-61	1.02669e-60	0.139131	1	0
TENM4	26011	broad.mit.edu	37	11	78468036	78468036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:78468036C>A	ENST00000278550.7	-	19	3032	c.2570G>T	c.(2569-2571)tGc>tTc	p.C857F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.C857F(4)									CTGGAGGCAGCAGTCAGGGTC	0.537000													19	50					8.00594e-06	8.75346e-06	0.189662	1	0
PAK7	57144	broad.mit.edu	37	20	9624772	9624772	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:9624772C>A	ENST00000378429.3	-	4	751		c.e4+1		PAK7_ENST00000378423.1_Splice_Site|PAK7_ENST00000353224.5_Splice_Site	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7								ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTCACCATACCTTCATAGGA	0.488000													6	84					0.0215528	0.0218324	0.021553	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418949	105418949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:105418949C>A	ENST00000333244.5	-	7	2958	c.2839G>T	c.(2839-2841)Ggc>Tgc	p.G947C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	947						nucleus		p.G947C(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTTGGGGCCTTTCAGGTCC	0.607000													85	410					2.36867e-37	4.32716e-37	0.139131	1	0
PLB1	151056	broad.mit.edu	37	2	28855888	28855888	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:28855888C>T	ENST00000422425.2	+	55	4091	c.4047C>T	c.(4045-4047)atC>atT	p.I1349I	PLB1_ENST00000541605.1_Silent_p.I325I|PLB1_ENST00000327757.5_Silent_p.I1360I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.I1349I(2)|p.I1360I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGATGGCCATCGCACTCTGGA	0.547000													20	145					0	0	0.062417	0	0
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:40468681C>T	ENST00000287598.6	+	5	583	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	BUB1B_ENST00000412359.3_Missense_Mutation_p.R144C|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R130C(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				40	95					0	0	0.111260	0	0
METTL4	64863	broad.mit.edu	37	18	2566948	2566948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:2566948G>A	ENST00000319888.6	-	2	1066	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL4_ENST00000574538.1_Missense_Mutation_p.P90S			Q8N3J2	METL4_HUMAN	methyltransferase like 4	90					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.P90S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAGTTCAGGTCGAAAAACA	0.368000													22	114					0	0	0.062417	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386973	8386973	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:8386973C>T	ENST00000427893.2	-	0	793																											AGCCAGCCTCCGCAGGACCCC	0.592000													4	61					0	0	0.029380	0	0
DYRK4	8798	broad.mit.edu	37	12	4722693	4722693	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:4722693A>G	ENST00000540757.2	+	13	1497	c.1337A>G	c.(1336-1338)aAa>aGa	p.K446R	DYRK4_ENST00000010132.5_Missense_Mutation_p.K446R|DYRK4_ENST00000545342.1_Missense_Mutation_p.K83R|DYRK4_ENST00000543431.1_Missense_Mutation_p.K445R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	446						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K847R(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GAGATCACCAAAGAGACTACA	0.438000													18	64					0	0	0.189662	0	0
SCAF11	9169	broad.mit.edu	37	12	46320773	46320773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:46320773C>A	ENST00000465950.1	-	1	2975	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V	SCAF11_ENST00000419565.2_Missense_Mutation_p.G904V|SCAF11_ENST00000369367.3_Missense_Mutation_p.G904V|SCAF11_ENST00000549162.1_Missense_Mutation_p.G712V			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	904					spliceosome assembly	nucleus	protein binding|zinc ion binding	p.G904V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGATTTTTCTCCTGGGGAAGA	0.458000													200	270					2.40591e-75	4.73498e-75	0.139131	1	0
PDGFA	5154	broad.mit.edu	37	7	540753	540753	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:540753C>A	ENST00000402802.3	-	5	987	c.580_splice	c.e5+1	p.D194_splice	PDGFA_ENST00000354513.5_Splice_Site_p.G194_splice	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	0					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.G194*(2)|p.D194Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		AGCCACTCACCCGTGTCCTCT	0.552000													33	319					1.69901e-12	2.16726e-12	0.080422	1	0
OR2T8	343172	broad.mit.edu	37	1	248084416	248084416	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248084416G>T	ENST00000319968.4	+	1	97	c.97G>T	c.(97-99)Gtt>Ttt	p.V33F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTGAGTATCGTTTTGACCTC	0.483000													31	200					2.87052e-16	4.00164e-16	0.080422	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65208508	65208508	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:65208508A>G	ENST00000247226.7	+	14	2413	c.2105A>G	c.(2104-2106)aAc>aGc	p.N702S	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.N263S|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.N758S|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.N291S|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	758					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.N702S(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCCAGGTTCAACAGCCTTCCC	0.602000													74	224					0	0	0.139131	0	0
ERG	2078	broad.mit.edu	37	21	39775598	39775598	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:39775598T>G	ENST00000442448.1	-	6	714	c.443A>C	c.(442-444)cAg>cCg	p.Q148P	ERG_ENST00000398905.1_Missense_Mutation_p.Q141P|ERG_ENST00000398907.1_Missense_Mutation_p.Q141P|ERG_ENST00000429727.2_Intron|ERG_ENST00000398911.1_Missense_Mutation_p.Q148P|ERG_ENST00000398910.1_Missense_Mutation_p.Q148P|ERG_ENST00000398919.2_Missense_Mutation_p.Q148P|ERG_ENST00000288319.7_Missense_Mutation_p.Q141P|ERG_ENST00000417133.2_Missense_Mutation_p.Q148P|ERG_ENST00000453032.2_Missense_Mutation_p.Q49P|ERG_ENST00000398897.1_Missense_Mutation_p.Q49P	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	148	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q148P(2)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCCAGCCACTGCCGCACATG	0.507000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								17	73					0	0	0.069288	0	0
NRSN1	140767	broad.mit.edu	37	6	24134721	24134721	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:24134721A>T	ENST00000378491.4	+	3	467	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	NRSN1_ENST00000378475.1_Missense_Mutation_p.R56W|NRSN1_ENST00000378478.1_Missense_Mutation_p.R56W	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	56					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.R56W(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTAACAGGTGGAGCTC	0.453000													21	94					0	0	0.069288	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377943	48377943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:48377943A>T	ENST00000222002.3	-	5	855	c.716T>A	c.(715-717)gTa>gAa	p.V239E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	239					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.V239E(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTTGTCCACTACATAATCAAC	0.403000													52	124					0	0	0.139131	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432850	73432850	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:73432850C>A	ENST00000263666.4	-	10	2981	c.2867G>T	c.(2866-2868)gGc>gTc	p.G956V	PDZRN3_ENST00000535920.1_Missense_Mutation_p.G678V|PDZRN3_ENST00000466780.1_Missense_Mutation_p.G613V|PDZRN3_ENST00000462146.2_Missense_Mutation_p.G613V|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G673V	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	956							ubiquitin-protein ligase activity|zinc ion binding	p.G956V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGGTCATGCCGCTGCGCTC	0.667000													34	76					7.11191e-15	9.60559e-15	0.173368	1	0
PHF21A	51317	broad.mit.edu	37	11	45975093	45975093	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:45975093C>A	ENST00000257821.4	-	10	1703	c.1080G>T	c.(1078-1080)cgG>cgT	p.R360R	PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000418153.2_Silent_p.R359R|PHF21A_ENST00000323180.6_Silent_p.R360R	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	359					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	p.R360R(2)|p.R359R(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GGTTCTCCTCCCGTTTTGGTT	0.478000													9	94					0.000442599	0.000465246	0.058154	1	0
UTP20	27340	broad.mit.edu	37	12	101723088	101723088	+	Missense_Mutation	SNP	G	G	A	rs142628447		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:101723088G>A	ENST00000261637.4	+	27	3452	c.3278G>A	c.(3277-3279)cGt>cAt	p.R1093H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1093					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCTTTAGGTCGTCAGCACGGT	0.423000													5	232					0	0	0.184627	0	0
STXBP1	6812	broad.mit.edu	37	9	130420719	130420719	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:130420719C>G	ENST00000373302.3	+	4	374	c.235C>G	c.(235-237)Cca>Gca	p.P79A	STXBP1_ENST00000373299.1_Missense_Mutation_p.P79A	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	79					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.P79A(4)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCTCATCACTCCATCCGAGAA	0.483000													43	326					0	0	0.124865	0	0
CREBBP	1387	broad.mit.edu	37	16	3860755	3860755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:3860755G>T	ENST00000262367.5	-	3	1633	c.824C>A	c.(823-825)cCa>cAa	p.P275Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.P275Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	275	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGTCCAAATGGACTTGTGTT	0.498000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	125					0.00909568	0.00927791	0.150653	1	0
IGSF10	285313	broad.mit.edu	37	3	151154859	151154859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:151154859G>T	ENST00000282466.3	-	6	7489	c.7490C>A	c.(7489-7491)aCa>aAa	p.T2497K	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2497	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.T2497K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCATAAGCTGTTGCTTCTTT	0.388000													102	194					5.30763e-54	1.02393e-53	0.139131	1	0
ZNF236	7776	broad.mit.edu	37	18	74672732	74672732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:74672732C>G	ENST00000253159.8	+	30	5532	c.5334C>G	c.(5332-5334)taC>taG	p.Y1778*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Y1780*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1778					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y1778*(3)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCGGCCCTACAAGTGTGCCT	0.587000													12	116					0	0	0.080935	0	0
ADRBK1	156	broad.mit.edu	37	11	67049774	67049774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:67049774C>G	ENST00000308595.5	+	12	1280	c.990C>G	c.(988-990)caC>caG	p.H330Q	ADRBK1_ENST00000527176.1_Intron|ADRBK1_ENST00000526285.1_Missense_Mutation_p.H330Q	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	330	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.H330Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGGCCACGTGCGGATCT	0.657000													22	291					0	0	0.076483	0	0
HMCN1	83872	broad.mit.edu	37	1	185892747	185892747	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:185892747A>G	ENST00000271588.4	+	8	1476	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q416R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	416					response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q416R(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACCTCTTCCAGAGAGTATCA	0.358000													59	168					0	0	0.139131	0	0
TRMT2B	79979	broad.mit.edu	37	X	100278506	100278506	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:100278506C>T	ENST00000338687.7	-	7	1379	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	TRMT2B_ENST00000372931.5_Missense_Mutation_p.G237R|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G192R|TRMT2B_ENST00000372935.1_Missense_Mutation_p.G237R|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G237R|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G237R			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	237							tRNA (uracil-5-)-methyltransferase activity	p.G237R(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATTGTGTGCCCTTGGCTATTG	0.443000													65	104					0	0	0.139131	0	0
NMRK2	27231	broad.mit.edu	37	19	3939950	3939950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:3939950G>T	ENST00000168977.2	+	6	666	c.376G>T	c.(376-378)Gag>Tag	p.E126*	NMRK2_ENST00000593949.1_Nonsense_Mutation_p.E131*|NMRK2_ENST00000599576.1_Intron	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2									p.E126*(2)									CCCGTATGAAGAGTGCAAGTG	0.602000													10	33					1.15088e-07	1.30716e-07	0.146539	1	0
LCE3D	84648	broad.mit.edu	37	1	152552359	152552359	+	Silent	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152552359T>G	ENST00000368787.3	-	2	110	c.54A>C	c.(52-54)tcA>tcC	p.S18S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	18					keratinization			p.S18S(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GACACTTGGGTGAGGGACACT	0.597000													73	217					0	0	0.139131	0	0
SCRN1	9805	broad.mit.edu	37	7	29966088	29966088	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:29966088C>T	ENST00000426154.1	-	7	1242	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	SCRN1_ENST00000409497.1_Missense_Mutation_p.A356T|SCRN1_ENST00000416113.2_Missense_Mutation_p.A182T|SCRN1_ENST00000242059.5_Missense_Mutation_p.A356T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	356					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.A376T(1)|p.A356T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TCGATGATGGCACGTGCCCAC	0.622000													27	272					0	0	0.144211	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664295	38664295	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:38664295G>A	ENST00000336949.6	+	2	1041	c.96G>A	c.(94-96)gtG>gtA	p.V32V	MID1IP1_ENST00000457894.1_Silent_p.V32V|MID1IP1_ENST00000378474.3_Silent_p.V32V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	32					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		p.V32V(2)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACCAGACGGTGATGGTGCCCA	0.602000													18	23					0	0	0.069288	0	0
RANGAP1	5905	broad.mit.edu	37	22	41657531	41657531	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:41657531C>A	ENST00000455915.2	-	5	2003	c.534G>T	c.(532-534)aaG>aaT	p.K178N	RANGAP1_ENST00000407260.4_Intron|RANGAP1_ENST00000405486.1_Missense_Mutation_p.K178N|RANGAP1_ENST00000356244.3_Missense_Mutation_p.K178N			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.K178N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCAGAGGCTTGCCTTGGG	0.582000													36	51					1.48734e-19	2.21587e-19	0.131918	1	0
ALMS1P	200420	broad.mit.edu	37	2	73899571	73899571	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:73899571A>G	ENST00000450720.1	+	0	443					NR_003683.2																						GCTCTTTACCAGTTATCCTGA	0.393000													13	21					0	0	0.105934	0	0
MEPE	56955	broad.mit.edu	37	4	88767150	88767150	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:88767150C>A	ENST00000497649.2	+	6	1436	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.A377E|MEPE_ENST00000361056.3_Missense_Mutation_p.A377E|MEPE_ENST00000395102.4_Missense_Mutation_p.A408E|MEPE_ENST00000560249.1_Missense_Mutation_p.A264E|MEPE_ENST00000540395.1_Missense_Mutation_p.A264E			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	377					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A377E(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACCCTCCTGCACCCTCAAAA	0.438000													19	84					1.67942e-08	1.94905e-08	0.175082	1	0
ITGAD	3681	broad.mit.edu	37	16	31422464	31422464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:31422464T>C	ENST00000389202.2	+	13	1473	c.1424T>C	c.(1423-1425)aTc>aCc	p.I475T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	475					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCGACCTGATCCTCATTGGG	0.642000													6	208					0	0	0.021553	0	0
TET1	80312	broad.mit.edu	37	10	70450858	70450858	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:70450858G>T	ENST00000373644.4	+	12	5907	c.5698G>T	c.(5698-5700)Ggc>Tgc	p.G1900C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1900					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.G1900C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGATGGCCCTGGCATTTCACA	0.567000													16	122					2.23348e-06	2.46504e-06	0.146539	1	0
MAN2C1	4123	broad.mit.edu	37	15	75650895	75650895	+	Missense_Mutation	SNP	C	C	T	rs150018240		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:75650895C>T	ENST00000565683.1	-	20	2373	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	MAN2C1_ENST00000569482.1_Missense_Mutation_p.A771T|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A672T|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A771T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	771					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.A771T(2)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGAACCAGGCGCTGCCCCGC	0.647000													22	95					0	0	0.083992	0	0
C1orf173	127254	broad.mit.edu	37	1	75042610	75042610	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:75042610T>A	ENST00000326665.5	-	13	2405	c.2187A>T	c.(2185-2187)tcA>tcT	p.S729S	C1orf173_ENST00000433746.2_Intron	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	729	Glu-rich.							p.S729S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAATGGCAATGAATCCTTTC	0.383000													10	107					0	0	0.069234	0	0
DENND1A	57706	broad.mit.edu	37	9	126641241	126641241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:126641241C>A	ENST00000373624.2	-	2	278	c.77G>T	c.(76-78)gGc>gTc	p.G26V	DENND1A_ENST00000373618.1_Missense_Mutation_p.A11S|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.G26V|DENND1A_ENST00000394215.2_Missense_Mutation_p.A11S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	26	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.G26V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGAAAGAGTGCCACCTGTCCT	0.373000													16	119					5.03518e-11	6.21307e-11	0.189662	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642976	1642976	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:1642976A>C	ENST00000399682.1	-	1	392	c.348T>G	c.(346-348)ggT>ggG	p.G116G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	116	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662000													8	35					0	0	0.163468	0	0
OR4D9	390199	broad.mit.edu	37	11	59282792	59282792	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:59282792T>C	ENST00000329328.3	+	1	407	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATGACCATCATGAGTAGGGGG	0.537000													10	149					0	0	0.069234	0	0
OR2T10	127069	broad.mit.edu	37	1	248756948	248756948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248756948C>G	ENST00000330500.2	-	1	152	c.122G>C	c.(121-123)tGg>tCg	p.W41S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W41S(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAATATTCCAAGACACAGC	0.423000													33	38					0	0	0.163468	0	0
CSMD2	114784	broad.mit.edu	37	1	34209016	34209016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:34209016C>A	ENST00000373381.4	-	14	2214	c.2038G>T	c.(2038-2040)Gcc>Tcc	p.A680S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4.					integral to membrane|plasma membrane	protein binding	p.A640S(2)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCTCGGCGGTGGCCCCA	0.617000													17	162					1.67942e-08	1.94905e-08	0.175082	1	0
OCM2	4951	broad.mit.edu	37	7	97617832	97617832	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:97617832G>A	ENST00000257627.4	-	2	181	c.90C>T	c.(88-90)ttC>ttT	p.F30F	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	30							calcium ion binding			lung(4)	4						ACGTCTGGAAGAATTTTTGGG	0.468000													11	327					0	0	0.093190	0	0
LTBP3	4054	broad.mit.edu	37	11	65315462	65315462	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:65315462G>A	ENST00000301873.5	-	12	2043	c.1775C>T	c.(1774-1776)cCg>cTg	p.P592L	LTBP3_ENST00000322147.4_Missense_Mutation_p.P592L|LTBP3_ENST00000536982.1_Missense_Mutation_p.P218L|LTBP3_ENST00000532932.1_Missense_Mutation_p.P22L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	592	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding	p.P592L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGGGGGCCCGGCACGCACTC	0.672000													10	64					0	0	0.080935	0	0
PLB1	151056	broad.mit.edu	37	2	28843772	28843772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:28843772C>A	ENST00000422425.2	+	48	3465	c.3421C>A	c.(3421-3423)Ctc>Atc	p.L1141I	PLB1_ENST00000541605.1_Missense_Mutation_p.L117I|PLB1_ENST00000327757.5_Missense_Mutation_p.L1152I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1152	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L1141I(1)|p.L1152I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAACCCTTACCTCCTTGGCTT	0.552000													7	307					8.12818e-05	8.69233e-05	0.029380	1	0
APBB1	322	broad.mit.edu	37	11	6423312	6423312	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:6423312C>T	ENST00000389906.2	-	8	1481	c.1382_splice	c.e8+1	p.S461_splice	APBB1_ENST00000530885.1_Splice_Site_p.R241_splice|APBB1_ENST00000533407.1_Splice_Site_p.R202_splice|APBB1_ENST00000311051.3_Splice_Site_p.R461_splice|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000299402.6_Splice_Site_p.R461_splice	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	461	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R461K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTATTCCCACCTTCCACTGTC	0.577000													7	67					0	0	0.038147	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95210624	95210624	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:95210624G>T	ENST00000354268.4	+	24	3093	c.3019_splice	c.e24-1	p.G1007_splice	SMARCAD1_ENST00000509418.1_Splice_Site_p.G577_splice|SMARCAD1_ENST00000457823.2_Splice_Site_p.G1009_splice			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1007	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1007V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACCTACAGGTGATGAAGGG	0.308000													47	282					2.9001e-28	4.8934e-28	0.139131	1	0
CACNA1E	777	broad.mit.edu	37	1	181759585	181759585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:181759585G>T	ENST00000526775.1	+	43	5899	c.5734G>T	c.(5734-5736)Ggc>Tgc	p.G1912C	CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1882C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1538C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1931C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1863C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1931C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1912C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1931					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G1931C(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTCAGGAGTGGCCGGAGTGG	0.542000													13	54					3.8784e-16	5.38106e-16	0.062417	1	0
DEFB112	245915	broad.mit.edu	37	6	50011302	50011302	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:50011302C>T	ENST00000322246.4	-	2	327	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	110					defense response to bacterium	extracellular region		p.D110N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGACGTGAGTCTTTAGGGTAC	0.408000													20	77					0	0	0.055883	0	0
BRAT1	221927	broad.mit.edu	37	7	2582880	2582880	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:2582880T>C	ENST00000340611.4	-	6	1137	c.881A>G	c.(880-882)cAc>cGc	p.H294R		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	294					response to ionizing radiation	nucleus	protein binding	p.H294R(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGGTCCCATGTGGGTGGGACC	0.642000													26	134					0	0	0.099896	0	0
OBSCN	84033	broad.mit.edu	37	1	228523918	228523918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:228523918C>A	ENST00000570156.2	+	75	19429	c.19355C>A	c.(19354-19356)tCa>tAa	p.S6452*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S3129*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S5495*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S5495*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S2614*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5495					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.S6077*(2)|p.S6207*(2)|p.S5495*(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCCATCTCAGCACAGGGG	0.572000													45	166					6.31075e-24	1.0027e-23	0.139131	1	0
NLRP4	147945	broad.mit.edu	37	19	56369376	56369376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:56369376C>A	ENST00000301295.6	+	3	1039	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	NLRP4_ENST00000346986.5_Missense_Mutation_p.S206Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.S131Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	206	NACHT.						ATP binding	p.S206Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTTGATTTCCAGAGAGTGG	0.532000													55	140					1.41401e-22	2.19762e-22	0.139131	1	0
WDR27	253769	broad.mit.edu	37	6	170088913	170088913	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:170088913C>A	ENST00000333572.6	-	2	708	c.189_splice	c.e2+1	p.Q63_splice	WDR27_ENST00000448612.1_Splice_Site_p.Q63_splice|WDR27_ENST00000420344.2_Splice_Site_p.Q63_splice|WDR27_ENST00000423258.1_Splice_Site_p.Q63_splice			A2RRH5	WDR27_HUMAN	WD repeat domain 27	63								p.Q63H(6)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTCAATACCTGATGAGAAG	0.468000													57	149					1.47633e-17	2.11084e-17	0.139131	1	0
BIN2	51411	broad.mit.edu	37	12	51689596	51689596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:51689596C>G	ENST00000267012.4	-	9	806	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	BIN2_ENST00000604560.1_Missense_Mutation_p.V222L|BIN2_ENST00000452142.2_Missense_Mutation_p.V217L|BIN2_ENST00000544402.1_Missense_Mutation_p.V223L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	249						cytoplasm	protein binding	p.V249L(2)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTCCCTTCACCACAAAGACT	0.453000													108	214					0	0	0.139131	0	0
OR6B2	389090	broad.mit.edu	37	2	240969840	240969840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:240969840C>G	ENST00000402971.2	-	1	66	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G3R(2)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		ACATTCTCCCCACTCATGCCT	0.592000													15	43					0	0	0.119110	0	0
NXF1	10482	broad.mit.edu	37	11	62569274	62569274	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:62569274G>A	ENST00000531709.2	-	6	689	c.576C>T	c.(574-576)aaC>aaT	p.N192N	NXF1_ENST00000294172.2_Silent_p.N192N|NXF1_ENST00000532297.1_Silent_p.N192N|NXF1_ENST00000439713.2_Silent_p.N192N|NXF1_ENST00000531131.1_5'UTR	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	192	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.N192N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGAAGAGTTGATGATGA	0.488000													63	192					0	0	0.139131	0	0
KLK4	9622	broad.mit.edu	37	19	51412025	51412025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51412025C>A	ENST00000324041.1	-	3	284	c.285G>T	c.(283-285)caG>caT	p.Q95H	KLK4_ENST00000431178.2_Missense_Mutation_p.Q46H	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	95	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.Q95H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCACCATCTGGCTCCCTG	0.602000													38	92					6.1244e-12	7.76996e-12	0.098360	1	0
FRY	10129	broad.mit.edu	37	13	32811626	32811626	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:32811626A>T	ENST00000380250.3	+	44	6417	c.5921A>T	c.(5920-5922)gAa>gTa	p.E1974V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.E1974V(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAACTGCCGAACGGAGCCGG	0.532000													8	59					0	0	0.080935	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213592	1213592	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:1213592C>A	ENST00000304460.10	+	5	734	c.678C>A	c.(676-678)acC>acA	p.T226T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	226					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T226T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTACATCACCTCCACGCTGC	0.657000													28	90					5.60225e-13	7.28915e-13	0.144211	1	0
GPR112	139378	broad.mit.edu	37	X	135429796	135429796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:135429796C>T	ENST00000394143.1	+	6	4222	c.3931C>T	c.(3931-3933)Caa>Taa	p.Q1311*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1248*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1106*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1311*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1311					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q1311*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGTCACCAAACACATTC	0.443000													37	80					0	0	0.086207	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	46					0	0	0.184627	0	0
ARSJ	79642	broad.mit.edu	37	4	114899799	114899799	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:114899799C>T	ENST00000315366.7	-	1	1058	c.192G>A	c.(190-192)gaG>gaA	p.E64E	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Silent_p.E64E	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	64						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GCTCTAGTTTCTCTCCAGCTT	0.527000													5	211					0	0	0.184627	0	0
PLCB1	23236	broad.mit.edu	37	20	8770893	8770893	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:8770893G>T	ENST00000378641.3	+	31	3883	c.3408G>T	c.(3406-3408)ctG>ctT	p.L1136L	PLCB1_ENST00000338037.6_Silent_p.L1136L|PLCB1_ENST00000378637.2_Silent_p.L1136L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1136					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.D1137Y(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAGATCCTGGATGAAAAGC	0.338000													8	23					0.000274275	0.000288827	0.047766	1	0
AADACL2	344752	broad.mit.edu	37	3	151474962	151474962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:151474962G>A	ENST00000356517.3	+	5	895	c.786G>A	c.(784-786)tgG>tgA	p.W262*	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	262						extracellular region|integral to membrane	carboxylesterase activity	p.W262*(2)|p.W240*(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACTTCCCTGGGCAATGAGAA	0.413000													73	191					0	0	0.139131	0	0
BRE	9577	broad.mit.edu	37	2	28464261	28464261	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:28464261G>T	ENST00000344773.2	+	9	989		c.e9+1		BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000342045.2_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.?(9)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTTTGGCACGTAAGTTCTGC	0.438000													15	93					6.49762e-13	8.41672e-13	0.175082	1	0
KRT6A	3853	broad.mit.edu	37	12	52885477	52885477	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:52885477C>A	ENST00000330722.6	-	2	652	c.584G>T	c.(583-585)tGg>tTg	p.W195L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	195	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.W195L(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGGGTCCACTTTGTTTC	0.522000													56	95					3.28156e-27	5.42755e-27	0.139131	1	0
PXDN	7837	broad.mit.edu	37	2	1653089	1653089	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:1653089C>A	ENST00000252804.4	-	17	2513	c.2463G>T	c.(2461-2463)tgG>tgT	p.W821C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	821					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.W821C(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAACTGGCCCCACTGCATCA	0.662000													4	40					0.000602214	0.000630763	0.184627	1	0
PLCD4	84812	broad.mit.edu	37	2	219492945	219492945	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:219492945A>T	ENST00000450993.2	+	7	1305	c.966A>T	c.(964-966)ggA>ggT	p.G322G	PLCD4_ENST00000432688.1_Silent_p.G322G|PLCD4_ENST00000417849.1_Silent_p.G322G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G322G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGTCGAGGGATATATACGGT	0.512000													19	222					0	0	0.175082	0	0
COL3A1	1281	broad.mit.edu	37	2	189872628	189872628	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:189872628G>A	ENST00000304636.3	+	46	3551	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1127	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.Q1127Q(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGTCAGCAGGGTGCAATCG	0.463000													45	116					0	0	0.139131	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:114107681C>T	ENST00000375418.3	-	1	158	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.K24K(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGCTGTTCTCCTTGCAGACAT	0.577000													13	73					0	0	0.093190	0	0
PCDH10	57575	broad.mit.edu	37	4	134084177	134084177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:134084177G>T	ENST00000264360.4	+	4	3669	c.2843G>T	c.(2842-2844)gGc>gTc	p.G948V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	948					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G948V(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAGCTCTGGGCCACTCAGAT	0.483000													32	120					1.56442e-22	2.4168e-22	0.163468	1	0
OR2C3	81472	broad.mit.edu	37	1	247695358	247695358	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:247695358C>T	ENST00000366487.3	-	2	817	c.456G>A	c.(454-456)ggG>ggA	p.G152G	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGTCAGACCCCCCAGCCAGG	0.562000													18	52					0	0	0.175082	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036699	58036699	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:58036699C>A	ENST00000556826.1	-	6	1170		c.e6-1		SLC35F4_ENST00000339762.6_Splice_Site|SLC35F4_ENST00000554729.1_Splice_Site	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.?(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAACAAGACCTGGAATGAGA	0.433000													7	29					5.4927e-09	6.43839e-09	0.047766	1	0
SPATA20	64847	broad.mit.edu	37	17	48627416	48627416	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:48627416G>C	ENST00000006658.6	+	8	1053	c.933G>C	c.(931-933)caG>caC	p.Q311H	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.Q251H|SPATA20_ENST00000356488.4_Missense_Mutation_p.Q295H	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	295					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGGCCCAGCAGATGGCCTTGC	0.617000													11	632					0	0	0.069234	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866251	131866251	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:131866251G>A	ENST00000359827.3	-	18	4343	c.3381C>T	c.(3379-3381)tcC>tcT	p.S1127S	PLXNA4_ENST00000321063.4_Silent_p.S1127S			Q9HCM2	PLXA4_HUMAN	plexin A4	1127	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.S1127S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGATGAGCAGGGACTGGACGT	0.602000													40	231					0	0	0.092188	0	0
BLK	640	broad.mit.edu	37	8	11406563	11406563	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:11406563C>A	ENST00000259089.4	+	5	892	c.300C>A	c.(298-300)ctC>ctA	p.L100L	BLK_ENST00000529894.1_Silent_p.L29L	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	100	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L100L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCAGGTCACTCGTCACAGGAA	0.592000													4	16					0.150653	0.151559	0.150653	1	0
OR13C5	138799	broad.mit.edu	37	9	107361248	107361248	+	Missense_Mutation	SNP	C	C	A	rs141723124	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:107361248C>A	ENST00000374779.2	-	1	540	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149C(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CTCCTATGATCCAGGACCCAG	0.458000													27	231					9.90768e-06	1.08025e-05	0.099896	1	0
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:166981296A>T	ENST00000061240.2	+	15	2610	c.1963A>T	c.(1963-1965)Aga>Tga	p.R655*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.R678*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	655	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R655*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACCCAGTACAGAATTTCTGT	0.418000													52	124					0	0	0.139131	0	0
ZNF831	128611	broad.mit.edu	37	20	57829002	57829002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:57829002C>G	ENST00000371030.2	+	5	4238	c.4238C>G	c.(4237-4239)aCt>aGt	p.T1413S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1413						intracellular	nucleic acid binding|zinc ion binding	p.T1413S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCACAGCACTGCTGCCACA	0.498000													13	135					0	0	0.105934	0	0
SYT6	148281	broad.mit.edu	37	1	114640465	114640465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:114640465C>A	ENST00000393296.1	-	6	1476	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	SYT6_ENST00000369547.1_Missense_Mutation_p.V382L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	467					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.V382L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGATCCCCACACGACAGACT	0.567000													23	184					7.16444e-05	7.68275e-05	0.091800	1	0
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:92101100G>T	ENST00000377067.3	+	2	621	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	83						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q83H(3)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGCTCGCCAGGATATGCAGC	0.438000													16	115					3.52763e-06	3.87874e-06	0.160694	1	0
SORCS3	22986	broad.mit.edu	37	10	106802840	106802840	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:106802840C>G	ENST00000369701.3	+	5	1209	c.982C>G	c.(982-984)Cgg>Ggg	p.R328G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	328						integral to membrane	neuropeptide receptor activity	p.R328G(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTTGGAAGACGGTGGCAACT	0.438000													64	163					0	0	0.139131	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136384	220136384	+	RNA	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:220136384T>C	ENST00000490341.1	+	0	854					NR_003063.1																						TGGCAGAGATTACCAATGCCT	0.552000													7	106					0	0	0.069234	0	0
BAGE2	85319	broad.mit.edu	37	21	11049486	11049486	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:11049486C>A	ENST00000470054.1	-	0	622									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGACATTGCCAACCTGCACG	0.448000													17	317					7.41877e-09	8.6795e-09	0.062417	1	0
PI4KB	5298	broad.mit.edu	37	1	151288658	151288658	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:151288658C>A	ENST00000368875.2	-	3	916	c.336G>T	c.(334-336)gaG>gaT	p.E112D	PI4KB_ENST00000271657.5_Missense_Mutation_p.E112D|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.E100D|PI4KB_ENST00000368872.1_Missense_Mutation_p.E100D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E100D	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	100					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.E112D(2)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCATCTTCCTCCTCCCTGA	0.577000													46	175					1.03325e-14	1.39072e-14	0.124865	1	0
BAG6	7917	broad.mit.edu	37	6	31614237	31614237	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:31614237G>C	ENST00000404765.2	-	8	1141	c.852C>G	c.(850-852)ctC>ctG	p.L284L	BAG6_ENST00000375964.6_Silent_p.L290L|BAG6_ENST00000439687.2_Silent_p.L284L|BAG6_ENST00000375976.4_Silent_p.L284L|BAG6_ENST00000362049.6_Silent_p.L284L|BAG6_ENST00000211379.5_Silent_p.L284L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	290	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.L284L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGAAGGGCTGGAGGCGACTCT	0.582000													9	127					0	0	0.047766	0	0
LCE3D	84648	broad.mit.edu	37	1	152552354	152552354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152552354T>A	ENST00000368787.3	-	2	115	c.59A>T	c.(58-60)aAg>aTg	p.K20M		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	20					keratinization			p.K20M(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGGGACACTTGGGTGAGGG	0.602000													72	221					0	0	0.139131	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594437	11594437	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:11594437G>T	ENST00000294484.6	+	18	3513		c.e18-1		PTCHD2_ENST00000389575.3_Splice_Site|PTCHD2_ENST00000304391.6_Splice_Site	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2						cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.?(2)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTCCCCACAGACCACGTACA	0.627000													26	87					7.68411e-24	1.21596e-23	0.134883	1	0
GZMH	2999	broad.mit.edu	37	14	25075914	25075914	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:25075914G>T	ENST00000216338.4	-	5	680	c.636C>A	c.(634-636)gcC>gcA	p.A212A	RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Silent_p.A81A|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Silent_p.A126A	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	212	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.A212A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GAATACCTTGGGCTACGTCCT	0.532000													24	232					1.66031e-10	2.02734e-10	0.091800	1	0
BRWD3	254065	broad.mit.edu	37	X	79936970	79936970	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:79936970T>C	ENST00000373275.4	-	40	4740	c.4524A>G	c.(4522-4524)ctA>ctG	p.L1508L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1508								p.L1508L(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAAGTAGATATAGTGAAAGCC	0.378000													42	54					0	0	0.098360	0	0
ANO6	196527	broad.mit.edu	37	12	45810526	45810526	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:45810526C>T	ENST00000320560.8	+	17	2258	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	ANO6_ENST00000425752.2_Silent_p.L686L|ANO6_ENST00000423947.3_Silent_p.L707L|ANO6_ENST00000435642.1_Silent_p.L686L|ANO6_ENST00000441606.2_Silent_p.L668L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	686					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.L686L(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCTTTTCCACTGGCCCCTCT	0.473000													48	76					0	0	0.139131	0	0
F13A1	2162	broad.mit.edu	37	6	6318869	6318869	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:6318869C>T	ENST00000264870.3	-	2	294	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	10					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G10E(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCTTCTGCCTCCAAAGGCGGT	0.478000													91	309					0	0	0.139131	0	0
CIB4	130106	broad.mit.edu	37	2	26818175	26818175	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:26818175A>T	ENST00000288861.4	-	4	250	c.197T>A	c.(196-198)tTc>tAc	p.F66Y	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	66	EF-hand 1.						calcium ion binding	p.F66Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGTCTCTGAAAGGGTTGAC	0.562000													16	75					0	0	0.160694	0	0
OR2L3	391192	broad.mit.edu	37	1	248224532	248224532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248224532G>A	ENST00000359959.3	+	1	549	c.549G>A	c.(547-549)atG>atA	p.M183I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M183I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCCAGCAATGGTGACTCTGG	0.463000													64	294					0	0	0.139131	0	0
RBM44	375316	broad.mit.edu	37	2	238726701	238726701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:238726701C>T	ENST00000316997.4	+	3	1274	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S381F	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	380							nucleotide binding|RNA binding	p.S381F(4)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTCAAACTTCCTGGACCTCT	0.378000													27	79					0	0	0.116897	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145979967	145979967	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:145979967A>C	ENST00000394413.3	-	7	1417	c.847T>G	c.(847-849)Tcg>Gcg	p.S283A	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S341A|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S283A|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S349A|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S272A|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S283A|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S283A|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S289A|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S286A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	283					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.S283A(1)|p.S341A(1)|p.S286A(1)|p.S272A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGAAATCGAAGAGATAATT	0.423000													4	143					0	0	0.150653	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817990	22817990	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:22817990A>G	ENST00000404138.1	+	4	1306	c.795A>G	c.(793-795)ctA>ctG	p.L265L	ZBTB40_ENST00000374651.4_Silent_p.L265L|ZBTB40_ENST00000375647.4_Silent_p.L265L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L265L(2)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TAAAAAAACTAGAAATGTGTT	0.378000													49	148					0	0	0.139131	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995285	140995285	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:140995285C>A	ENST00000285879.4	+	4	2381	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	699							protein binding	p.L699I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTCCTCTTGAGGGAGA	0.562000										HNSCC(15;0.026)			79	75					4.49761e-31	7.8141e-31	0.139131	1	0
ESR1	2099	broad.mit.edu	37	6	152265375	152265375	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:152265375C>A	ENST00000440973.1	+	6	1198	c.828C>A	c.(826-828)ggC>ggA	p.G276G	ESR1_ENST00000544394.1_Silent_p.G103G|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000338799.5_Silent_p.G276G|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000443427.1_Silent_p.G276G|ESR1_ENST00000206249.3_Silent_p.G276G	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	276	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.G276G(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATGGGGAGGGCAGGGGTGAAG	0.507000													56	135					4.88506e-25	7.8685e-25	0.139131	1	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:98188534C>G	ENST00000332650.5	+	1	211	c.114C>G	c.(112-114)acC>acG	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433000													105	336					0	0	0.139131	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:86369289G>T	ENST00000400286.2	-	2	1953	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	452						integral to membrane		p.P452Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAAGGTTCCTGGCAGTATTTC	0.358000													18	133					7.07596e-05	7.59482e-05	0.175082	1	0
LOXL4	84171	broad.mit.edu	37	10	100017495	100017495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:100017495G>T	ENST00000260702.3	-	8	1322	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	391	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.P391H(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TTCCAGGGCAGGGCAGTCGCT	0.582000													92	174					4.21487e-37	7.68787e-37	0.139131	1	0
EPHA10	284656	broad.mit.edu	37	1	38201007	38201007	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:38201007G>A	ENST00000373048.4	-	6	1412	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S	EPHA10_ENST00000330210.7_5'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.S471S|EPHA10_ENST00000540011.1_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	471	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.S472S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCACGACAGGGACACGCTCT	0.622000													3	10					0	0	0.115264	0	0
UNC13C	440279	broad.mit.edu	37	15	54307745	54307745	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:54307745T>A	ENST00000545554.1	+	1	2645	c.2645T>A	c.(2644-2646)aTg>aAg	p.M882K	UNC13C_ENST00000260323.11_Missense_Mutation_p.M882K|UNC13C_ENST00000537900.1_Missense_Mutation_p.M882K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	882					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.M882K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTGAAGTCATGGAACAAGTC	0.378000													47	100					0	0	0.117977	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204252	151204252	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:151204252G>T	ENST00000409426.1	+	4	752	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.V102L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.V115L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.V103L			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	115	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.V115L(2)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGATTTCTACGTGGTTGAGAG	0.488000													63	170					3.94839e-29	6.71055e-29	0.139131	1	0
REV1	51455	broad.mit.edu	37	2	100058928	100058928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:100058928G>C	ENST00000258428.3	-	5	582	c.354C>G	c.(352-354)atC>atG	p.I118M	REV1_ENST00000393445.3_Missense_Mutation_p.I118M|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	118	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I118M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCAGCTTTGATGCTGAAAC	0.413000								Direct reversal of damage					8	166					0	0	0.069234	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413146	121413146	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:121413146C>T	ENST00000393667.3	-	13	6334	c.6224G>A	c.(6223-6225)cGc>cAc	p.R2075H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2070H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2070					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCCTTTTTGCGGTGTTCAAC	0.403000													6	271					0	0	0.029380	0	0
TRBV27	28560	broad.mit.edu	37	7	142423595	142423595	+	RNA	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142423595A>G	ENST00000506718.1	+	0	603				TRBV27_ENST00000390399.3_RNA																							GAAGGGTACAAAGTCTCTCGA	0.502000													6	116					0	0	0.029380	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237364	84237364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:84237364G>A	ENST00000324537.5	+	7	787	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	SH3GL3_ENST00000535412.1_Missense_Mutation_p.G91S|SH3GL3_ENST00000427482.2_Missense_Mutation_p.G91S|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G99S			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	91	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.G99S(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GCAGACGGAAGGCTTGCTGGG	0.517000													7	115					0	0	0.047766	0	0
ZNF322	79692	broad.mit.edu	37	6	26637670	26637670	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:26637670G>T	ENST00000415922.2	-	4	1757	c.1112C>A	c.(1111-1113)aCa>aAa	p.T371K	ZNF322_ENST00000471278.1_Missense_Mutation_p.T371K	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.T371K(1)									AATGTGTACTGTCTGATGTTG	0.438000													15	594					4.14922e-12	5.26978e-12	0.146539	1	0
ELF2	1998	broad.mit.edu	37	4	139988852	139988852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:139988852G>C	ENST00000394235.2	-	7	1065	c.563C>G	c.(562-564)cCa>cGa	p.P188R	ELF2_ENST00000379550.1_Missense_Mutation_p.P200R|ELF2_ENST00000265495.4_Missense_Mutation_p.P188R|ELF2_ENST00000510408.1_Missense_Mutation_p.P128R|ELF2_ENST00000358635.3_Missense_Mutation_p.P140R|ELF2_ENST00000379549.2_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	200					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P188R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TCCTTCTCTTGGTTTCTTCTT	0.358000													31	207					0	0	0.173368	0	0
GRM3	2913	broad.mit.edu	37	7	86415735	86415735	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:86415735C>T	ENST00000361669.2	+	3	1726	c.627C>T	c.(625-627)aaC>aaT	p.N209N	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.N81N|GRM3_ENST00000439827.1_Silent_p.N209N|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Silent_p.N207N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	209					synaptic transmission	integral to plasma membrane		p.N209N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCTTCTTCAACTGGACCTACG	0.572000													22	143					0	0	0.069288	0	0
WARS2	10352	broad.mit.edu	37	1	119619185	119619185	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:119619185T>C	ENST00000369426.5	-	2	139	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	WARS2_ENST00000235521.4_Missense_Mutation_p.I46V|WARS2_ENST00000537870.1_5'UTR			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	46					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.I46V(4)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AGGTGGAGGATTCCTGTAGGT	0.448000													63	311					0	0	0.139131	0	0
BNIP2	663	broad.mit.edu	37	15	59961504	59961504	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:59961504T>A	ENST00000267859.3	-	8	1221	c.1128A>T	c.(1126-1128)acA>acT	p.T376T	AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Silent_p.T317T|BNIP2_ENST00000607373.1_Silent_p.T255T			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	255					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	p.T255T(2)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAGCCAGAAGTGTTCTGATAA	0.264000													28	72					0	0	0.203993	0	0
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:21424254C>A	ENST00000304625.2	+	2	414	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418000													20	149					8.04996e-18	1.15805e-17	0.062417	1	0
LIPK	643414	broad.mit.edu	37	10	90486557	90486557	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:90486557G>C	ENST00000404190.1	+	2	111	c.111G>C	c.(109-111)caG>caC	p.Q37H		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	37					lipid catabolic process	extracellular region	hydrolase activity	p.Q37H(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTTAGAGCCAGATTATTTCTT	0.313000													11	15					0	0	0.093190	0	0
C9orf64	84267	broad.mit.edu	37	9	86570403	86570403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:86570403C>A	ENST00000376344.3	-	2	706	c.490G>T	c.(490-492)Gga>Tga	p.G164*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.G23*|C9orf64_ENST00000376340.2_Nonsense_Mutation_p.G23*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	164								p.G164*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAAGAGCCTCCAAACTTCTCC	0.443000													48	136					1.51926e-22	2.35324e-22	0.139131	1	0
RGS22	26166	broad.mit.edu	37	8	101051164	101051164	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:101051164C>T	ENST00000360863.6	-	14	2355	c.2161G>A	c.(2161-2163)Gcg>Acg	p.A721T	RGS22_ENST00000523437.1_Missense_Mutation_p.A709T|RGS22_ENST00000523287.1_Missense_Mutation_p.A540T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	721					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CGTACTTGCGCTTGCTTGCAT	0.403000													8	115					0	0	0.058154	0	0
SCN4A	6329	broad.mit.edu	37	17	62018710	62018710	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:62018710C>G	ENST00000578147.1	-	24	5008	c.4932G>C	c.(4930-4932)gtG>gtC	p.V1644V	SCN4A_ENST00000435607.1_Silent_p.V1644V			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1644V(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCAGGGTGTCCACGAAGTCTG	0.567000													25	104					0	0	0.108266	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145419	44145419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:44145419C>G	ENST00000260665.7	-	28	3072	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1005					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.Q1005H(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACGGAACTTCCTGGTTACCCT	0.338000													40	117					0	0	0.117977	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412161	43412161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:43412161G>T	ENST00000310826.5	-	3	2227	c.2044C>A	c.(2044-2046)Ctc>Atc	p.L682I	ZBTB21_ENST00000398499.1_Missense_Mutation_p.L682I|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L682I|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.L682I(2)									AATTGAGAGAGAAAGCGGTAC	0.433000													32	289					5.60225e-13	7.28915e-13	0.144211	1	0
UMOD	7369	broad.mit.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:20360484C>A	ENST00000396134.2	-	4	361	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	UMOD_ENST00000570689.1_Missense_Mutation_p.V47F|UMOD_ENST00000424589.1_Missense_Mutation_p.V80F|UMOD_ENST00000396138.4_Missense_Mutation_p.V96F|UMOD_ENST00000302509.4_Missense_Mutation_p.V47F|UMOD_ENST00000396142.2_Missense_Mutation_p.V47F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	47	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.V47F(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGTCGTAACGGCCTCATCC	0.612000													12	58					2.23348e-06	2.46504e-06	0.146539	1	0
KIAA2018	205717	broad.mit.edu	37	3	113375768	113375768	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:113375768G>T	ENST00000316407.4	-	7	5171	c.4761C>A	c.(4759-4761)aaC>aaA	p.N1587K	KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1587K|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1587	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.N1587K(2)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTTATGATGGTTCCGACTAG	0.478000													31	81					7.26314e-15	9.79855e-15	0.125774	1	0
DUSP22	56940	broad.mit.edu	37	6	348110	348110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:348110G>T	ENST00000419235.2	+	6	349	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.G91W|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	91	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G91W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CAGCCTGGCCGGGGTCTCCAG	0.602000													18	286					2.89027e-11	3.58908e-11	0.069288	1	0
PKLR	5313	broad.mit.edu	37	1	155264362	155264362	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:155264362G>A	ENST00000392414.3	-	6	896	c.783C>T	c.(781-783)agC>agT	p.S261S	PKLR_ENST00000342741.4_Silent_p.S292S	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	292					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.S292S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGCCACGTCGCTGGCTTTCC	0.612000													6	146					0	0	0.047766	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13474988	13474988	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:13474988T>C	ENST00000376126.2	-	3	1140	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	381								p.T381A(2)		lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCAGAAAGTGGTGAGGTTG	0.562000													32	203					0	0	0.139131	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718254	103718254	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:103718254C>A	ENST00000245312.3	-	1	942	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	116					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.A116S(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCAATAGGCCAAGATATTG	0.507000													14	138					6.31663e-08	7.23047e-08	0.132662	1	0
DUOX1	53905	broad.mit.edu	37	15	45444142	45444142	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:45444142C>A	ENST00000321429.4	+	25	3492	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1029K|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q675K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1029	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.Q1029K(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGTCTCCACCAGACGGTGCA	0.587000													31	81					4.15321e-07	4.65398e-07	0.144211	1	0
TBX3	6926	broad.mit.edu	37	12	115114148	115114148	+	Missense_Mutation	SNP	C	C	A	rs140580685	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:115114148C>A	ENST00000349155.2	-	5	1972	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	TBX3_ENST00000257566.3_Missense_Mutation_p.A357S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	357					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.A357S(2)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACAGTGGAGGCGGCTGGAGAA	0.522000													58	77					2.5401e-28	4.29214e-28	0.139131	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863699	64863699	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:64863699C>A	ENST00000313349.3	-	2	604	c.307G>T	c.(307-309)Gcc>Tcc	p.A103S	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	103					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.A103S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GCCGGCGGGGCCTCTCGGTAG	0.697000													6	42					8.12818e-05	8.69233e-05	0.029380	1	0
FAM86HP	729375	broad.mit.edu	37	3	129821725	129821725	+	RNA	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:129821725G>C	ENST00000500074.2	-	0	420																											CCCCGACCAGGGACACGATGG	0.597000													4	102					0	0	0.021553	0	0
CDH1	999	broad.mit.edu	37	16	68849475	68849475	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:68849475G>T	ENST00000261769.5	+	10	1569	c.1378G>T	c.(1378-1380)Gta>Tta	p.V460L	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.V399L|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	460	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.V460L(2)|p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GACGAATGTGGTACCTTTTGA	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				32	128					9.65021e-13	1.24728e-12	0.153744	1	0
EPX	8288	broad.mit.edu	37	17	56270730	56270730	+	Splice_Site	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:56270730A>T	ENST00000225371.5	+	3	280		c.e3-1			NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase						hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.?(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCTCCTGGGCAGCATCAAGCA	0.637000													67	299					0	0	0.139131	0	0
TG	7038	broad.mit.edu	37	8	134125713	134125713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:134125713C>A	ENST00000220616.4	+	44	7660	c.7620C>A	c.(7618-7620)taC>taA	p.Y2540*	TG_ENST00000542445.1_Nonsense_Mutation_p.Y910*|TG_ENST00000519543.1_Nonsense_Mutation_p.Y673*|TG_ENST00000377869.1_Nonsense_Mutation_p.Y2483*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2540					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Y2540*(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCCTTTTACCAGGCACTGC	0.488000													84	113					3.29526e-42	6.13473e-42	0.139131	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525673	176525673	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:176525673C>G	ENST00000367662.3	+	2	1379	c.215C>G	c.(214-216)cCc>cGc	p.P72R	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P72R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	72					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P72R(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGTCTACCCCAGCAGGGCT	0.557000													102	404					0	0	0.139131	0	0
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:25014018G>A	ENST00000382114.4	-	7	944	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253						extracellular region		p.N253N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCACCATGCAGTTCTCCATGC	0.468000													48	238					0	0	0.139131	0	0
AUTS2	26053	broad.mit.edu	37	7	70228278	70228278	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:70228278C>A	ENST00000342771.4	+	7	1486	c.1165C>A	c.(1165-1167)Cag>Aag	p.Q389K	AUTS2_ENST00000406775.2_Missense_Mutation_p.Q389K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	389	Ser-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGCCTCTCCCAGCCATTGTC	0.602000													6	109					0.00198382	0.00204855	0.029380	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140553818C>A	ENST00000231137.3	+	1	1576	c.1402C>A	c.(1402-1404)Ctg>Atg	p.L468M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632000													35	112					1.48341e-19	2.21565e-19	0.139131	1	0
CCDC63	160762	broad.mit.edu	37	12	111336809	111336809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:111336809G>T	ENST00000308208.5	+	10	1464	c.1222G>T	c.(1222-1224)Gat>Tat	p.D408Y	CCDC63_ENST00000545036.1_Missense_Mutation_p.D368Y|CCDC63_ENST00000552694.1_Missense_Mutation_p.D329Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	408								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAAGACCTTGGATCTATTGAA	0.507000													76	88					1.3913e-53	2.66646e-53	0.139131	1	0
NLRP4	147945	broad.mit.edu	37	19	56370026	56370026	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:56370026G>T	ENST00000301295.6	+	3	1689	c.1267G>T	c.(1267-1269)Ggg>Tgg	p.G423W	NLRP4_ENST00000346986.5_Missense_Mutation_p.G423W|NLRP4_ENST00000587891.1_Missense_Mutation_p.G348W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	423	NACHT.						ATP binding	p.G423W(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGAAATGGGGTTGTTGA	0.562000													51	119					1.81118e-26	2.97044e-26	0.139131	1	0
PLB1	151056	broad.mit.edu	37	2	28855858	28855858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:28855858C>A	ENST00000422425.2	+	55	4061	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	PLB1_ENST00000541605.1_Missense_Mutation_p.F315L|PLB1_ENST00000327757.5_Missense_Mutation_p.F1350L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1350	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.F1339L(2)|p.F1350L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTTTCACTTCTCAGACCGCG	0.562000													22	188					2.89027e-11	3.58908e-11	0.069288	1	0
OR2G6	391211	broad.mit.edu	37	1	248685280	248685280	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248685280G>A	ENST00000343414.4	+	1	365	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCGTCTGAGTGTATTCTCT	0.552000													10	214					0	0	0.080935	0	0
ZNF713	349075	broad.mit.edu	37	7	55991322	55991322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:55991322G>T	ENST00000429591.2	+	3	236	c.198G>T	c.(196-198)gaG>gaT	p.E66D	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.E66D	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E66D(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			gtaagccaGAGGTAATCGCGC	0.453000													11	36					1.08611e-07	1.23599e-07	0.080935	1	0
MAST4	375449	broad.mit.edu	37	5	66462418	66462418	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:66462418G>A	ENST00000404260.3	+	29	7728	c.7420G>A	c.(7420-7422)Gga>Aga	p.G2474R	MAST4_ENST00000403625.2_Missense_Mutation_p.G2471R|MAST4_ENST00000405643.1_Missense_Mutation_p.G2292R|MAST4_ENST00000261569.7_Missense_Mutation_p.G2277R|MAST4_ENST00000403666.1_Missense_Mutation_p.G2282R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2474						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCAGGGCCGGAGTTAGAGA	0.632000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	0.115264	0	0
RP1L1	94137	broad.mit.edu	37	8	10469886	10469886	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:10469886G>T	ENST00000382483.3	-	4	1945	c.1722C>A	c.(1720-1722)ccC>ccA	p.P574P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	574					intracellular signal transduction			p.P574P(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGAGAAGCGGGGTCGCCTC	0.652000													30	192					2.65835e-16	3.71028e-16	0.125774	1	0
TOPORS	10210	broad.mit.edu	37	9	32544246	32544246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:32544246C>G	ENST00000360538.2	-	3	393	c.277G>C	c.(277-279)Gta>Cta	p.V93L	TOPORS_ENST00000379858.1_Missense_Mutation_p.V28L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.V93L(2)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCAGCTGGTACTGTCTGTTGC	0.373000													15	157					0	0	0.160694	0	0
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:27196029C>G	ENST00000242159.3	-	1	269	c.136G>C	c.(136-138)Gcc>Ccc	p.A46P		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622000													20	103					0	0	0.083992	0	0
SLC10A7	84068	broad.mit.edu	37	4	147425062	147425062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:147425062C>A	ENST00000432059.2	-	4	581	c.335G>T	c.(334-336)gGt>gTt	p.G112V	SLC10A7_ENST00000264986.3_Missense_Mutation_p.R66S|SLC10A7_ENST00000335472.7_Missense_Mutation_p.G112V|SLC10A7_ENST00000507030.1_Missense_Mutation_p.G112V|SLC10A7_ENST00000511374.1_Missense_Mutation_p.R66S|SLC10A7_ENST00000394059.4_Missense_Mutation_p.G112V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.G112V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	112						integral to membrane	bile acid:sodium symporter activity	p.G112V(4)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AGGCATGCAACCTACTGTCTG	0.373000													24	72					3.6726e-16	5.10762e-16	0.091800	1	0
SLC5A11	115584	broad.mit.edu	37	16	24895432	24895432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:24895432C>T	ENST00000347898.3	+	8	1266	c.644C>T	c.(643-645)gCg>gTg	p.A215V	SLC5A11_ENST00000565769.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A151V|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A180V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A151V|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A145V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A180V	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	215					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.A215V(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTATAGGAGCGCTCACCTTG	0.592000													69	346					0	0	0.139131	0	0
DAPK3	1613	broad.mit.edu	37	19	3960090	3960090	+	Silent	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:3960090G>C	ENST00000545797.2	-	8	1038	c.795C>G	c.(793-795)acC>acG	p.T265T	DAPK3_ENST00000301264.3_Silent_p.T265T			O43293	DAPK3_HUMAN	death-associated protein kinase 3	265	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGGCAATGGTCATTCTCC	0.637000													14	430					0	0	0.132662	0	0
OGN	4969	broad.mit.edu	37	9	95165620	95165620	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:95165620G>T	ENST00000262551.4	-	2	490	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	OGN_ENST00000375561.5_Missense_Mutation_p.Q24K|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	24						extracellular space|proteinaceous extracellular matrix	growth factor activity	p.Q24K(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAGTCCTGCTGGGTTGGTGGT	0.383000													21	65					1.9806e-07	2.24302e-07	0.069288	1	0
UGDH	7358	broad.mit.edu	37	4	39515801	39515801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:39515801C>A	ENST00000316423.6	-	3	508	c.166G>T	c.(166-168)Gga>Tga	p.G56*	UGDH_ENST00000507089.1_De_novo_Start_OutOfFrame|UGDH_ENST00000501493.2_Nonsense_Mutation_p.G56*|UGDH_ENST00000506179.1_Nonsense_Mutation_p.G56*|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	56					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.G56*(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TCTTTTAGTCCTGGCTAAAAA	0.313000													29	171					7.01153e-11	8.62448e-11	0.125774	1	0
CNTN6	27255	broad.mit.edu	37	3	1415642	1415642	+	Silent	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:1415642A>C	ENST00000446702.2	+	16	2607	c.1980A>C	c.(1978-1980)gcA>gcC	p.A660A	CNTN6_ENST00000350110.2_Silent_p.A660A|CNTN6_ENST00000539053.1_Silent_p.A588A			Q9UQ52	CNTN6_HUMAN	contactin 6	660	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.A660A(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATACAATGCAACAGTGGTTG	0.388000													25	81					0	0	0.116897	0	0
C4orf22	255119	broad.mit.edu	37	4	81866088	81866088	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:81866088C>A	ENST00000358105.3	+	5	650	c.601C>A	c.(601-603)Cca>Aca	p.P201T	C4orf22_ENST00000508675.1_Missense_Mutation_p.P218T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	201								p.P201T(2)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TAATGTGGACCCAAAGGTAAT	0.323000													26	127					6.00712e-18	8.68437e-18	0.163468	1	0
SMARCD3	6604	broad.mit.edu	37	7	150939644	150939644	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:150939644C>A	ENST00000392811.2	-	6	937	c.463G>T	c.(463-465)Gcg>Tcg	p.A155S	SMARCD3_ENST00000262188.8_Missense_Mutation_p.A168S|SMARCD3_ENST00000356800.2_Missense_Mutation_p.A155S|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	p.A155S(2)|p.A168S(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGGCTTCGCAGGGTTAAAA	0.577000													110	209					5.67207e-43	1.05933e-42	0.139131	1	0
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:10822872G>C	ENST00000250237.5	+	6	692	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTCGCCATCGGGGGCCTGAG	0.617000													56	125					0	0	0.139131	0	0
F8	2157	broad.mit.edu	37	X	154157069	154157069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:154157069G>A	ENST00000360256.4	-	14	5196	c.4996C>T	c.(4996-4998)Caa>Taa	p.Q1666*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1666	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.Q1666*(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTTCCCGTTGATGGCGTTTC	0.408000													11	121					0	0	0.069234	0	0
RBM47	54502	broad.mit.edu	37	4	40440430	40440430	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:40440430T>A	ENST00000319592.4	-	4	1190	c.481A>T	c.(481-483)Atg>Ttg	p.M161L	RBM47_ENST00000381793.2_Missense_Mutation_p.M161L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.M161L|RBM47_ENST00000381795.6_Missense_Mutation_p.M161L|RBM47_ENST00000514014.1_Missense_Mutation_p.M123L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	161	RRM 2.					nucleus	nucleotide binding|RNA binding	p.M161L(6)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCTTCTTCATCTTGGGGATC	0.627000													34	82					0	0	0.203993	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130378624	130378624	+	Silent	SNP	G	G	T	rs142020636	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:130378624G>T	ENST00000529410.1	+	11	1220	c.741G>T	c.(739-741)ccG>ccT	p.P247P	L3MBTL3_ENST00000533560.1_Silent_p.P222P|L3MBTL3_ENST00000361794.2_Silent_p.P247P|L3MBTL3_ENST00000368139.2_Silent_p.P222P|L3MBTL3_ENST00000526019.1_Silent_p.P222P|L3MBTL3_ENST00000368136.2_Silent_p.P247P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	247					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.P247P(3)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGGCAGTGCCGGCGAAGCTGT	0.537000													13	10					0.000566183	0.000593555	0.160694	1	0
HDHD1	8226	broad.mit.edu	37	X	6995465	6995465	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:6995465C>A	ENST00000381077.5	-	3	382	c.306G>T	c.(304-306)ctG>ctT	p.L102L	HDHD1_ENST00000412827.2_Silent_p.L59L|HDHD1_ENST00000424830.2_Silent_p.L125L|HDHD1_ENST00000540122.1_Silent_p.L102L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	102					nucleotide metabolic process		metal ion binding|phosphatase activity	p.L88L(2)		breast(2)|large_intestine(1)|lung(3)	6						CATGTTTCCGCAGGTGGATGA	0.592000													14	19					7.93312e-07	8.8305e-07	0.119110	1	0
FCGBP	8857	broad.mit.edu	37	19	40433455	40433455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:40433455G>T	ENST00000221347.6	-	2	821	c.814C>A	c.(814-816)Cag>Aag	p.Q272K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	272	IgGFc-binding.					extracellular region	protein binding	p.Q272K(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTGTGGCCTGGCTGGCCACA	0.602000													20	61					7.45023e-12	9.43158e-12	0.055883	1	0
LRIT2	340745	broad.mit.edu	37	10	85982089	85982089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:85982089C>A	ENST00000372113.4	-	3	1245	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.G424*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTATTGATTCCGGGGCCAATG	0.557000													101	142					2.18974e-44	4.12249e-44	0.139131	1	0
GTF3C1	2975	broad.mit.edu	37	16	27540011	27540011	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:27540011T>A	ENST00000356183.4	-	6	896	c.881A>T	c.(880-882)tAc>tTc	p.Y294F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y294F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	294						transcription factor TFIIIC complex	DNA binding|protein binding	p.Y294F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATATACTGGTACAGACGCTT	0.453000													17	343					0	0	0.189662	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811918	56811918	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:56811918C>A	ENST00000229201.4	-	27	3605	c.3451_splice	c.e27+1	p.E1151_splice	TIMELESS_ENST00000554616.1_Splice_Site_p.E649_splice|TIMELESS_ENST00000553532.1_Splice_Site_p.E1152_splice	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1152					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.E1152*(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCACTATTACCCTCTGGGGAT	0.532000													282	352					2.4986e-114	4.95069e-114	0.139131	1	0
C9orf72	203228	broad.mit.edu	37	9	27566700	27566700	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:27566700C>T	ENST00000380003.3	-	2	482	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Missense_Mutation_p.R140Q	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	140										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TCTTCCTTTCCGGATTATATG	0.338000													4	131					0	0	0.150653	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769244	25769244	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:25769244C>A	ENST00000377905.4	+	3	242	c.123C>A	c.(121-123)ctC>ctA	p.L41L	SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Silent_p.L41L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	41					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.L41L(2)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCCCTCATCTTGCAGC	0.468000													28	104					3.73988e-18	5.42005e-18	0.116897	1	0
PRRC2C	23215	broad.mit.edu	37	1	171482234	171482234	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:171482234C>G	ENST00000367742.3	+	3	455	c.213C>G	c.(211-213)ggC>ggG	p.G71G	PRRC2C_ENST00000426496.2_Silent_p.G69G|PRRC2C_ENST00000338920.4_Silent_p.G69G|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Silent_p.G71G			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	69							protein C-terminus binding	p.G71G(2)									AAAACAAAGGCAATGATCCTA	0.423000													4	121					0	0	0.150653	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54872616	54872616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:54872616G>T	ENST00000474759.1	+	16	1540	c.1492G>T	c.(1492-1494)Gga>Tga	p.G498*	CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.G404*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.G498*|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.G498*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	498	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CATTCTTCTGGGAGTGGTTGG	0.383000													14	213					1.02788e-11	1.29704e-11	0.160694	1	0
BRINP3	339479	broad.mit.edu	37	1	190067423	190067423	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:190067423C>G	ENST00000367462.3	-	8	2257	c.2026G>C	c.(2026-2028)Gac>Cac	p.D676H	FAM5C_ENST00000534846.1_Missense_Mutation_p.D574H|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		676						extracellular region		p.D676H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTTCAGGGTCAAAGTGCATG	0.458000													61	227					0	0	0.139131	0	0
OR6K2	81448	broad.mit.edu	37	1	158670253	158670253	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:158670253T>A	ENST00000359610.2	-	1	233	c.190A>T	c.(190-192)Agt>Tgt	p.S64C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAAAGAGCACTGATAAAAGTA	0.438000													44	116					0	0	0.104719	0	0
PTPN5	84867	broad.mit.edu	37	11	18754824	18754824	+	Silent	SNP	C	C	A	rs116891792	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:18754824C>A	ENST00000396170.1	-	11	2344	c.1080G>T	c.(1078-1080)acG>acT	p.T360T	PTPN5_ENST00000477854.1_Silent_p.T196T|PTPN5_ENST00000396167.2_Silent_p.T360T|PTPN5_ENST00000396168.1_Silent_p.T368T|PTPN5_ENST00000358540.2_Silent_p.T392T|PTPN5_ENST00000396171.4_Silent_p.T392T|RP11-1081L13.4_ENST00000527285.1_RNA	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	392	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.T392T(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAATGATGGGCGTGTGCTCCT	0.577000													22	90					1.55469e-16	2.1803e-16	0.083992	1	0
FRMPD2	143162	broad.mit.edu	37	10	49450216	49450216	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:49450216A>T	ENST00000374201.3	-	5	857	c.555T>A	c.(553-555)ggT>ggA	p.G185G	FRMPD2_ENST00000407470.4_Silent_p.G154G|FRMPD2_ENST00000305531.3_Silent_p.G161G	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	185	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G185G(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAATGGTACCCAGAACCA	0.448000													12	233					0	0	0.105934	0	0
RBM7	10179	broad.mit.edu	37	11	114276519	114276519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:114276519G>T	ENST00000541475.1	+	4	504	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.Q143H|RBM7_ENST00000375490.5_Missense_Mutation_p.V147L|RBM7_ENST00000545678.1_Missense_Mutation_p.V26L|RBM7_ENST00000544582.1_Missense_Mutation_p.V146L|RBM7_ENST00000540163.1_Missense_Mutation_p.V146L			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	146					meiosis		nucleotide binding|protein binding|RNA binding	p.V146L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GAGACAAGCAGTGGTAGGTTG	0.323000													33	61					1.06647e-15	1.46577e-15	0.193644	1	0
C1orf116	79098	broad.mit.edu	37	1	207195442	207195442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:207195442G>T	ENST00000359470.5	-	4	1916	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	C1orf116_ENST00000461135.2_Missense_Mutation_p.S310Y	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	556						cytoplasm|plasma membrane	receptor activity	p.S556Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CAGGCGCTTGGAGCTCTGCTC	0.597000													7	97					1.26484e-09	1.5129e-09	0.038147	1	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													5	19					0	0	0.038147	0	0
OR9G4	283189	broad.mit.edu	37	11	56510307	56510307	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:56510307T>C	ENST00000302957.3	-	1	980	c.981A>G	c.(979-981)acA>acG	p.T327T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T327T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACCTTCATGTTTGTGGTT	0.363000													24	191					0	0	0.116897	0	0
NID1	4811	broad.mit.edu	37	1	236201439	236201439	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:236201439C>A	ENST00000264187.6	-	5	1332	c.1250G>T	c.(1249-1251)gGc>gTc	p.G417V	NID1_ENST00000366595.3_Missense_Mutation_p.G417V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	417	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G417V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCCCGTATAGCCAGCGACACA	0.542000													57	175					6.176e-18	8.9175e-18	0.139131	1	0
FAM83C	128876	broad.mit.edu	37	20	33876672	33876672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:33876672G>T	ENST00000374408.3	-	2	699	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	201								p.Y201*(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGAGCAGGTACACAGGGA	0.602000													58	120					1.20869e-33	2.16419e-33	0.139131	1	0
HP1BP3	50809	broad.mit.edu	37	1	21074086	21074086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:21074086C>A	ENST00000375003.2	-	7	2248	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	HP1BP3_ENST00000312239.5_Missense_Mutation_p.G402W			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	402					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G402L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AACCCTTTCCCAGAGATCTGT	0.368000													11	119					0.000219431	0.000231699	0.119110	1	0
TRAM1	23471	broad.mit.edu	37	8	71512306	71512306	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:71512306T>A	ENST00000521425.1	-	0	913				TRAM1_ENST00000262213.2_Missense_Mutation_p.K45N|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Missense_Mutation_p.K14N			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.K45N(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGATAGAAGCTTTTGCCGTTA	0.368000													36	65					0	0	0.086207	0	0
CARD11	84433	broad.mit.edu	37	7	2985553	2985553	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:2985553C>A	ENST00000396946.4	-	4	661	c.258G>T	c.(256-258)agG>agT	p.R86S	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	86	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R79S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCACATAGCCCCTTTGCCCCT	0.493000			Mis		DLBCL								70	448					3.82405e-32	6.73378e-32	0.139131	1	0
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:139824060G>T	ENST00000303045.6	-	9	1877	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	COL22A1_ENST00000435777.1_Silent_p.S477S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.S477S(3)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCTGGGCAGGAGCAGTTGA	0.592000										HNSCC(7;0.00092)			99	171					8.84886e-50	1.67942e-49	0.139131	1	0
ZNF268	10795	broad.mit.edu	37	12	133779409	133779409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:133779409G>T	ENST00000536435.2	+	6	1467	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ZNF268_ENST00000228289.5_Missense_Mutation_p.Q379H|ZNF268_ENST00000537565.1_Missense_Mutation_p.Q218H|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	379						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTCACACCAGAAAACTCATT	0.388000													19	23					2.35188e-11	2.94551e-11	0.175082	1	0
HEPH	9843	broad.mit.edu	37	X	65417580	65417580	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:65417580G>T	ENST00000519389.1	+	10	1898	c.1719G>T	c.(1717-1719)tgG>tgT	p.W573C	HEPH_ENST00000374727.3_Missense_Mutation_p.W522C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000343002.2_Missense_Mutation_p.W519C|HEPH_ENST00000336279.5_Missense_Mutation_p.W252C|HEPH_ENST00000441993.2_Missense_Mutation_p.W522C			Q9BQS7	HEPH_HUMAN	hephaestin	519	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.W519C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATACCGCTGGACAGTCCCCC	0.488000													24	45					2.50493e-22	3.86466e-22	0.099896	1	0
C10orf12	26148	broad.mit.edu	37	10	98743749	98743749	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:98743749T>A	ENST00000286067.2	+	1	2709	c.2602T>A	c.(2602-2604)Ttt>Att	p.F868I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	868								p.F868I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATGACAAACTTTAAATTATC	0.398000													7	115					0	0	0.029380	0	0
DICER1	23405	broad.mit.edu	37	14	95573945	95573945	+	Splice_Site	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:95573945C>T	ENST00000526495.1	-	19	3095	c.2804_splice	c.e19+1	p.R935_splice	DICER1_ENST00000393063.1_Splice_Site_p.R935_splice|DICER1_ENST00000343455.3_Splice_Site_p.R935_splice|DICER1_ENST00000541352.1_Splice_Site_p.R935_splice|DICER1_ENST00000527414.1_Splice_Site_p.R935_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	935	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R935K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAATACCTACCTTGGAATGAT	0.418000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				11	174					0	0	0.093190	0	0
CD6	923	broad.mit.edu	37	11	60781463	60781463	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:60781463T>C	ENST00000313421.7	+	8	1550	c.1364T>C	c.(1363-1365)gTc>gCc	p.V455A	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Intron|CD6_ENST00000352009.5_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.V455A|CD6_ENST00000344028.5_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	455					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TATCAACCGGTCCCCATCACC	0.592000													7	119					0	0	0.038147	0	0
EXT2	2132	broad.mit.edu	37	11	44228502	44228502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:44228502G>T	ENST00000395673.3	+	10	1810	c.1754G>T	c.(1753-1755)gGt>gTt	p.G585V	EXT2_ENST00000343631.3_Missense_Mutation_p.G552V|EXT2_ENST00000533608.1_Missense_Mutation_p.G552V|EXT2_ENST00000358681.4_Missense_Mutation_p.G562V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	552					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.G552F(2)|p.G562F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGCAATTTGGTTATGAGGTA	0.348000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				44	187					1.89013e-27	3.13949e-27	0.139131	1	0
PRR16	51334	broad.mit.edu	37	5	120022158	120022158	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:120022158G>T	ENST00000379551.2	+	3	957	c.600G>T	c.(598-600)cgG>cgT	p.R200R	PRR16_ENST00000407149.2_Silent_p.R223R|PRR16_ENST00000446965.1_Silent_p.R153R|PRR16_ENST00000505123.1_Silent_p.R153R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	223	Pro-rich.							p.R200R(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTGATACCCGGTATAACATAA	0.512000													33	84					9.78485e-24	1.5463e-23	0.173368	1	0
STPG2	285555	broad.mit.edu	37	4	98480220	98480220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:98480220C>T	ENST00000295268.3	-	11	1458	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.D457N(2)									CACATTATATCAGCAGCCATT	0.284000													25	124					0	0	0.163468	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182405	57182405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:57182405G>T	ENST00000504228.1	+	6	2842	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A906S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A913S			Q6ZU35	K1211_HUMAN	KIAA1211	913								p.A913S(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCGGAAGCAAGCCCCTTCCAC	0.687000													18	65					2.35188e-11	2.94551e-11	0.175082	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702834	40702834	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:40702834A>C	ENST00000356699.5	+	4	520	c.491A>C	c.(490-492)gAt>gCt	p.D164A	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.D164A(4)									CATCCTCAGGATCTGGCCTCC	0.587000													87	393					0	0	0.139131	0	0
LHCGR	3973	broad.mit.edu	37	2	48941147	48941147	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:48941147T>G	ENST00000294954.7	-	7	604	c.583A>C	c.(583-585)Aat>Cat	p.N195H	LHCGR_ENST00000403273.1_Missense_Mutation_p.N195H|LHCGR_ENST00000405626.1_Missense_Mutation_p.N195H|LHCGR_ENST00000344775.3_Missense_Mutation_p.N195H|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.N195H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	195					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.N195H(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTCGTCCCATTGAATGCATGA	0.378000													4	60					0	0	0.150653	0	0
TRIM55	84675	broad.mit.edu	37	8	67064862	67064862	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:67064862G>A	ENST00000315962.4	+	8	1609	c.1236_splice	c.e8+1	p.Q412_splice	TRIM55_ENST00000276573.7_Splice_Site_p.Q412_splice|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Splice_Site_p.Q412_splice	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	412						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGTGACACAGGTAACCCCTC	0.542000													27	138					0	0	0.116897	0	0
AE000661.37	0	broad.mit.edu	37	14	22951283	22951283	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22951283G>T	ENST00000514473.2	-	0	107				TRAJ54_ENST00000390484.1_RNA																							GTGTAATTCAGGGAGCCCAGA	0.532000													11	41					4.36969e-10	5.26431e-10	0.105934	1	0
STARD13	90627	broad.mit.edu	37	13	33704350	33704350	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:33704350C>A	ENST00000336934.5	-	5	580	c.464G>T	c.(463-465)cGt>cTt	p.R155L	STARD13_ENST00000255486.4_Missense_Mutation_p.R147L|STARD13_ENST00000399365.3_Missense_Mutation_p.R37L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	155					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R155L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTCGTCCACACGAGACCACCT	0.552000													14	53					0.000151284	0.000160757	0.105934	1	0
NYNRIN	57523	broad.mit.edu	37	14	24877306	24877306	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:24877306G>T	ENST00000382554.3	+	3	748	c.430G>T	c.(430-432)Ggc>Tgc	p.G144C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	144					DNA integration	integral to membrane	DNA binding	p.G144C(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGCGCTGGGGCCCTGCCCC	0.687000													14	46					6.31663e-08	7.23047e-08	0.132662	1	0
CLDN14	23562	broad.mit.edu	37	21	37833580	37833580	+	Missense_Mutation	SNP	C	C	A	rs142846225	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:37833580C>A	ENST00000399137.1	-	3	1280	c.414G>T	c.(412-414)tgG>tgT	p.W138C	AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.W138C|CLDN14_ENST00000399139.1_Missense_Mutation_p.W138C|CLDN14_ENST00000342108.2_Missense_Mutation_p.W138C|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.W138C	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	138					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.W138C(2)		endometrium(1)|lung(5)|skin(1)	7						CGTTGGTGGTCCAGGAGACGG	0.637000													19	130					8.34094e-07	9.26683e-07	0.204396	1	0
OSBPL6	114880	broad.mit.edu	37	2	179259071	179259071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179259071G>T	ENST00000190611.4	+	24	2981	c.2605G>T	c.(2605-2607)Gca>Tca	p.A869S	OSBPL6_ENST00000409631.1_Missense_Mutation_p.A833S|OSBPL6_ENST00000409045.3_Missense_Mutation_p.A838S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.A833S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A894S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.A873S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	869					lipid transport		lipid binding	p.A894S(2)|p.A869S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGAAGCTGCAGCATCAGAGAA	0.348000													58	145					3.94896e-32	6.9433e-32	0.139131	1	0
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	C	A	rs142051051	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:57876663C>A	ENST00000311585.7	+	2	621	c.251C>A	c.(250-252)gCg>gAg	p.A84E	EDN3_ENST00000371025.3_Missense_Mutation_p.A84E|EDN3_ENST00000371028.2_Missense_Mutation_p.A84E|EDN3_ENST00000337938.2_Missense_Mutation_p.A84E|EDN3_ENST00000395654.3_Missense_Mutation_p.A84E	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	84					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662000													15	129					4.7546e-09	5.59562e-09	0.146539	1	0
NUPL1	9818	broad.mit.edu	37	13	25881957	25881957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:25881957G>T	ENST00000463407.1	+	2	264	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	NUPL1_ENST00000381718.3_Missense_Mutation_p.G41W|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.G41W			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	41	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.G41W(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCCTTCTGTGGGGCTCAATTT	0.378000													22	123					9.95505e-16	1.36984e-15	0.069288	1	0
IFNA2	3440	broad.mit.edu	37	9	21384955	21384955	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:21384955C>A	ENST00000380206.2	-	1	441	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	125					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G125V(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CACCCCCACCCCCTGTATCAC	0.483000													36	311					9.62906e-15	1.29754e-14	0.086207	1	0
CADPS	8618	broad.mit.edu	37	3	62636588	62636588	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:62636588G>C	ENST00000383710.4	-	5	1486	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	CADPS_ENST00000490353.2_Missense_Mutation_p.I379M|CADPS_ENST00000357948.3_Missense_Mutation_p.I379M|CADPS_ENST00000283269.9_Missense_Mutation_p.I379M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	379					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.I379M(4)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCCCATGTCGATGATGGAAG	0.522000													37	165					0	0	0.098360	0	0
OR2M7	391196	broad.mit.edu	37	1	248487866	248487866	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248487866G>T	ENST00000317965.2	-	1	33	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2E(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCTCCCATGCCATGATGAA	0.428000													83	327					6.11987e-43	1.14114e-42	0.139131	1	0
RAB3C	115827	broad.mit.edu	37	5	58120870	58120870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:58120870C>A	ENST00000282878.4	+	4	546	c.377C>A	c.(376-378)aCt>aAt	p.T126N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	126					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.T126N(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGTCAACTCAAATCAAA	0.418000													27	118					4.7796e-09	5.61376e-09	0.099896	1	0
IGSF5	150084	broad.mit.edu	37	21	41137527	41137527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:41137527G>T	ENST00000380588.4	+	3	269	c.166G>T	c.(166-168)Gct>Tct	p.A56S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	56	Ig-like V-type 1.					integral to membrane|tight junction		p.A56S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGGCTCCCAGGCTCGCTTCAA	0.527000													21	103					3.85864e-22	5.92975e-22	0.076483	1	0
TARSL2	123283	broad.mit.edu	37	15	102197168	102197168	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:102197168C>T	ENST00000335968.3	-	18	2433	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	739					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.K739K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCGTATTTTCTTATTTAGTG	0.313000													19	41					0	0	0.204396	0	0
TTN	7273	broad.mit.edu	37	2	179587794	179587794	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179587794C>G	ENST00000589042.1	-	75	22164	c.21940G>C	c.(21940-21942)Gga>Cga	p.G7314R	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6070R|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6997R|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6997	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGAGCTCCACAAACATCC	0.368000													4	84					0	0	0.150653	0	0
FRAS1	80144	broad.mit.edu	37	4	79367972	79367972	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:79367972T>A	ENST00000264895.6	+	43	6388	c.5948T>A	c.(5947-5949)cTg>cAg	p.L1983Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1982					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L1983Q(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTTTGAGCCTGCAAGACCTG	0.478000													4	36					0	0	0.184627	0	0
DNAH9	1770	broad.mit.edu	37	17	11603083	11603083	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:11603083G>A	ENST00000262442.3	+	23	4976	c.4908G>A	c.(4906-4908)atG>atA	p.M1636I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M1636I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1636	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGACAACATGGCCAAGATGC	0.468000													6	117					0	0	0.021553	0	0
CALHM2	51063	broad.mit.edu	37	10	105209690	105209690	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:105209690G>T	ENST00000393235.1	-	3	1206	c.9C>A	c.(7-9)gcC>gcA	p.A3A	CALHM2_ENST00000369788.3_Silent_p.A3A|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000260743.5_Silent_p.A3A			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	3						integral to membrane		p.A3A(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGCGATCAGGGCTGCCATGG	0.587000													62	103					1.74971e-23	2.75022e-23	0.139131	1	0
PHF14	9678	broad.mit.edu	37	7	11022088	11022088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:11022088G>T	ENST00000403050.3	+	3	654	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	68	Glu/Lys-rich.						zinc ion binding	p.E68*(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TATTTTAGAAGAAGAACTGAA	0.313000													13	36					0.00010058	0.000107072	0.093190	1	0
BORA	79866	broad.mit.edu	37	13	73319235	73319235	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:73319235T>A	ENST00000390667.5	+	8	725	c.628T>A	c.(628-630)Tcg>Acg	p.S210T	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.S140T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	210	Ser-rich.		S -> L (in dbSNP:rs9543107).		cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	p.S210T(2)									CTCCTTACCTTCGGCTTCTCC	0.448000													32	257					0	0	0.139131	0	0
SHPRH	257218	broad.mit.edu	37	6	146262871	146262871	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:146262871C>G	ENST00000367503.3	-	10	2776	c.2378G>C	c.(2377-2379)cGt>cCt	p.R793P	SHPRH_ENST00000367505.2_Missense_Mutation_p.R793P|SHPRH_ENST00000438092.2_Missense_Mutation_p.R793P|SHPRH_ENST00000275233.7_Missense_Mutation_p.R793P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	793	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R793P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCGTAGGCGACGCCCATCCTC	0.468000													31	71					0	0	0.144211	0	0
NNMT	4837	broad.mit.edu	37	11	114182861	114182861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:114182861C>T	ENST00000535401.1	+	5	721	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P153S|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	153					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.P153S(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGGGGCCGTCCCCTTACCCCC	0.622000													10	218					0	0	0.069234	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449458	124449458	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:124449458G>T	ENST00000523984.1	+	5	440	c.212G>T	c.(211-213)aGa>aTa	p.R71I	WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.R131I|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000287387.2_Missense_Mutation_p.R131I			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	131					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.R131I(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AGGAAATTTAGAGTGATCCGT	0.408000													25	136					1.64293e-13	2.15681e-13	0.083992	1	0
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:10930655C>A	ENST00000283141.6	+	19	1837	c.1541C>A	c.(1540-1542)aCc>aAc	p.T514N	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358000													6	101					0.0293803	0.0297359	0.029380	1	0
ZP1	22917	broad.mit.edu	37	11	60636728	60636728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:60636728G>T	ENST00000278853.5	+	2	307	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	103					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V103L(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGCCACGTGCTGGAGAA	0.572000													9	47					0.00136819	0.00142035	0.093190	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1893703	1893703	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:1893703C>T	ENST00000518288.1	+	28	3514	c.3351C>T	c.(3349-3351)tcC>tcT	p.S1117S	ARHGEF10_ENST00000262112.6_Silent_p.S1089S|ARHGEF10_ENST00000349830.3_Silent_p.S1093S|ARHGEF10_ENST00000398564.1_Silent_p.S1118S|ARHGEF10_ENST00000520359.1_Silent_p.S1055S|ARHGEF10_ENST00000521927.1_3'UTR			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1118					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.S870S(1)|p.S1118S(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGCCGTGTCCGGCGTCGGGA	0.597000													12	27					0	0	0.080935	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628585	20628585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:20628585G>T	ENST00000525748.1	+	4	985	c.712G>T	c.(712-714)Gct>Tct	p.A238S		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	238					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A238S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATGATGCTGGCTCTGGCTGG	0.567000													40	108					4.57556e-38	8.38495e-38	0.131918	1	0
KIF27	55582	broad.mit.edu	37	9	86506225	86506225	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:86506225T>A	ENST00000297814.2	-	6	1937	c.1794A>T	c.(1792-1794)agA>agT	p.R598S	KIF27_ENST00000413982.1_Missense_Mutation_p.R598S|KIF27_ENST00000334204.2_Missense_Mutation_p.R598S	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	598					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R598S(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGGAATCTTGTCTTGATGGGA	0.358000													22	249					0	0	0.069288	0	0
FHDC1	85462	broad.mit.edu	37	4	153889217	153889217	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:153889217G>A	ENST00000511601.1	+	10	1374	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E396K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	396	FH2.				actin cytoskeleton organization		actin binding	p.E396K(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGGGATGGTGAACTTTGTCA	0.453000													64	208					0	0	0.139131	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336927	162336927	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:162336927G>T	ENST00000493151.1	+	2	2673	c.306G>T	c.(304-306)gaG>gaT	p.E102D	NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E83D|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E397D|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E392D	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	397	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.E397D(4)|p.E102D(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTAAGCCAGAGGACCTGCATT	0.667000													69	291					1.07941e-43	2.02239e-43	0.139131	1	0
RFC3	5983	broad.mit.edu	37	13	34404943	34404943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:34404943A>T	ENST00000380071.3	+	6	791	c.661A>T	c.(661-663)Aga>Tga	p.R221*	RFC3_ENST00000434425.1_Nonsense_Mutation_p.R221*	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.R221*(4)		lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAAGTCTTGTAGAAATCTCAG	0.433000													10	84					0	0	0.069234	0	0
ARMC5	79798	broad.mit.edu	37	16	31473953	31473953	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:31473953G>C	ENST00000457010.2	+	3	1786	c.1085G>C	c.(1084-1086)cGg>cCg	p.R362P	ARMC5_ENST00000563544.1_Missense_Mutation_p.R362P|ARMC5_ENST00000538189.1_Missense_Mutation_p.R394P|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.R362P|ARMC5_ENST00000408912.3_Missense_Mutation_p.R457P	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	362							binding	p.R362P(1)|p.R457P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCATCAACCGGGCCCGACTG	0.652000													23	64					0	0	0.069288	0	0
IGLON5	402665	broad.mit.edu	37	19	51828677	51828677	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51828677G>T	ENST00000270642.8	+	4	469	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	157	Ig-like C2-type 2.					extracellular region		p.V157L(2)		large_intestine(5)|lung(6)|prostate(1)	12						TTGCCTGGCCGTGGGGCGGCC	0.667000													6	45					0.00198382	0.00204855	0.029380	1	0
CSMD3	114788	broad.mit.edu	37	8	113569119	113569119	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:113569119T>A	ENST00000297405.5	-	25	4351	c.4107A>T	c.(4105-4107)caA>caT	p.Q1369H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q1329H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q1369H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q1265H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7.					integral to membrane|plasma membrane		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAGTGGCCTTGGTCACTGA	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	93					0	0	0.139131	0	0
C1orf173	127254	broad.mit.edu	37	1	75097613	75097613	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:75097613C>G	ENST00000326665.5	-	7	822		c.e7-1		C1orf173_ENST00000420661.2_Splice_Site	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173									p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTGCCCTGTAATCATA	0.368000													15	180					0	0	0.160694	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596192	24596192	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:24596192G>C	ENST00000535378.1	-	4	1325	c.683C>G	c.(682-684)cCc>cGc	p.P228R	KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.P237R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCGGCAAGGGAAGCAACAC	0.547000													9	179					0	0	0.047766	0	0
IFT80	57560	broad.mit.edu	37	3	159998598	159998598	+	Silent	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:159998598T>A	ENST00000326448.7	-	15	1953	c.1521A>T	c.(1519-1521)acA>acT	p.T507T	IFT80_ENST00000483465.1_Silent_p.T370T|RP11-432B6.3_ENST00000483754.1_Silent_p.T678T|IFT80_ENST00000496589.1_Silent_p.T370T	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	507						cilium axoneme|microtubule basal body		p.T507T(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATGCACCATTGTTCCTTAAT	0.313000													22	53					0	0	0.076483	0	0
FAM171B	165215	broad.mit.edu	37	2	187626258	187626258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:187626258G>T	ENST00000304698.5	+	8	1392	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	397						integral to membrane	DNA binding	p.V397F(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAAACTTGAGGTCCTCAAGAG	0.358000													99	240					1.70186e-65	3.32147e-65	0.139131	1	0
KIAA0020	9933	broad.mit.edu	37	9	2820099	2820099	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:2820099C>A	ENST00000397885.2	-	13	1395		c.e13-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum|nucleolus	RNA binding	p.?(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AGTATTGGCCCTGCAAGAATT	0.403000													8	55					0.0477658	0.048302	0.047766	1	0
SAMHD1	25939	broad.mit.edu	37	20	35540928	35540928	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:35540928G>A	ENST00000262878.4	-	10	1289	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.H149Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	364					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.H364Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGCGAGTGTGGAACATGTCA	0.328000													28	66					0	0	0.144211	0	0
GPR141	353345	broad.mit.edu	37	7	37780650	37780650	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:37780650C>A	ENST00000447769.1	+	4	944	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.Q219K|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	219						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q219K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTATCCCACCAGGAGTTCTG	0.418000													65	271					7.05995e-25	1.1356e-24	0.139131	1	0
KIAA0930	23313	broad.mit.edu	37	22	45598869	45598869	+	Splice_Site	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:45598869A>C	ENST00000336156.4	-	7	918		c.e7+1		KIAA0930_ENST00000391627.2_Splice_Site|KIAA0930_ENST00000251993.7_Splice_Site|KIAA0930_ENST00000443310.3_Splice_Site	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding	p.?(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCAGCCCTTACCCGCTCGTG	0.652000													26	81					0	0	0.108266	0	0
POTEE	445582	broad.mit.edu	37	2	131976304	131976304	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:131976304G>C	ENST00000356920.5	+	1	423	c.329G>C	c.(328-330)aGg>aCg	p.R110T	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R110T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	110							ATP binding										CCCTGCTGCAGGGGGAGCGGC	0.597000													5	183					0	0	0.105934	0	0
MYO1G	64005	broad.mit.edu	37	7	45011815	45011815	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:45011815C>G	ENST00000258787.7	-	6	764	c.628G>C	c.(628-630)Ggc>Cgc	p.G210R		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	210	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.G210R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCTCACTGCCTCTCAGCAAC	0.507000													40	158					0	0	0.092188	0	0
CHPF	79586	broad.mit.edu	37	2	220404338	220404338	+	Missense_Mutation	SNP	C	C	G	rs149014949		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:220404338C>G	ENST00000243776.6	-	4	2343	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	CHPF_ENST00000535926.1_Missense_Mutation_p.E537Q	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	699						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.E699Q(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCAGCTCCTCTTCTTGTTCT	0.647000													13	114					0	0	0.146539	0	0
LOC101929762	101929762	broad.mit.edu	37	4	120116641	120116641	+	Silent	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:120116641T>C	ENST00000326780.3	-	3	384	c.330A>G	c.(328-330)tcA>tcG	p.S110S	RP11-455G16.1_ENST00000515843.1_5'UTR														p.S110S(1)									TATGCTCATATGAAATGTCCA	0.373000													2	6					0	0	0.115264	0	0
ADAM20	8748	broad.mit.edu	37	14	70991190	70991190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:70991190C>A	ENST00000256389.3	-	2	679	c.435G>T	c.(433-435)caG>caT	p.Q145H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	95					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.Q145H(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAGGGCATGCTGCTCTGTGT	0.522000													27	142					1.17739e-12	1.51342e-12	0.108266	1	0
FAM46A	55603	broad.mit.edu	37	6	82459626	82459626	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:82459626T>A	ENST00000369754.3	-	3	1484	c.1172A>T	c.(1171-1173)cAt>cTt	p.H391L	FAM46A_ENST00000320172.6_Missense_Mutation_p.H372L|FAM46A_ENST00000369756.3_Missense_Mutation_p.H453L			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	372										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TCTTCTTTCATGTCCCATCAG	0.438000													6	116					0	0	0.029380	0	0
KLHL20	27252	broad.mit.edu	37	1	173735426	173735426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:173735426G>T	ENST00000209884.4	+	8	1429	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E242D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	431					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.E431D(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACATTGTTGAGAGGTGATCTT	0.428000													116	274					4.61678e-68	9.02546e-68	0.139131	1	0
MGAM	8972	broad.mit.edu	37	7	141755465	141755465	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:141755465C>A	ENST00000475668.2	+	28	3476	c.3422C>A	c.(3421-3423)tCc>tAc	p.S1141Y	MGAM_ENST00000549489.2_Missense_Mutation_p.S1141Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1141	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1141Y(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCACAGGTCCTATAGGAGA	0.542000													79	186					5.56462e-29	9.44372e-29	0.139131	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73165952	73165952	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:73165952A>T	ENST00000545377.1	+	21	2660	c.2484A>T	c.(2482-2484)gcA>gcT	p.A828A	ARHGEF28_ENST00000513042.2_Silent_p.A828A|ARHGEF28_ENST00000296794.6_Silent_p.A828A|ARHGEF28_ENST00000296799.4_Silent_p.A515A|ARHGEF28_ENST00000437974.1_Silent_p.A828A|ARHGEF28_ENST00000287898.5_Silent_p.A828A|ARHGEF28_ENST00000426542.2_Silent_p.A828A	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.A828A(4)									AGTTTGAAGCAGAATCTTGGA	0.408000													34	188					0	0	0.214465	0	0
OR51D1	390038	broad.mit.edu	37	11	4661635	4661635	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:4661635C>G	ENST00000357605.2	+	1	691	c.615C>G	c.(613-615)acC>acG	p.T205T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T205T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTGACACCAGGGTCAATG	0.468000													55	171					0	0	0.139131	0	0
ARID2	196528	broad.mit.edu	37	12	46233207	46233207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:46233207C>T	ENST00000334344.6	+	11	1598	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q327*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q86*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCCAGTCATCAAATGTTATC	0.413000			"""N, S, F"""		hepatocellular carcinoma								5	275					0	0	0.184627	0	0
CASC5	57082	broad.mit.edu	37	15	40917275	40917275	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:40917275A>T	ENST00000346991.5	+	11	5281	c.4891A>T	c.(4891-4893)Ata>Tta	p.I1631L	CASC5_ENST00000399668.2_Missense_Mutation_p.I1605L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1631					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGCTACAGAAATACATAATAT	0.363000													4	97					0	0	0.150653	0	0
MGAM	8972	broad.mit.edu	37	7	141765177	141765177	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:141765177C>A	ENST00000475668.2	+	38	4581	c.4527C>A	c.(4525-4527)acC>acA	p.T1509T	MGAM_ENST00000549489.2_Silent_p.T1509T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1509	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.T1509T(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGTCATCACCCGCTCCACAT	0.597000													6	19					5.18039e-06	5.69066e-06	0.038147	1	0
STK31	56164	broad.mit.edu	37	7	23826529	23826529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:23826529C>A	ENST00000354639.3	+	20	2868	c.2404C>A	c.(2404-2406)Cct>Act	p.P802T	STK31_ENST00000428484.1_Missense_Mutation_p.P802T|STK31_ENST00000355870.3_Missense_Mutation_p.P825T|STK31_ENST00000433467.2_Missense_Mutation_p.P825T|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.P825T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCAACATGCCTTTAAATTC	0.368000													45	283					1.48734e-19	2.21587e-19	0.131918	1	0
VWF	7450	broad.mit.edu	37	12	6135206	6135206	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:6135206C>A	ENST00000261405.5	-	23	3228	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	992	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.V992L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCACACACTTTCTCCTTG	0.557000													22	108					2.89027e-11	3.58908e-11	0.069288	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045525	142045525	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:142045525C>A	ENST00000390392.3	+	0	164																											CCCGCAGTCCCCATGGAAACG	0.478000													21	363					0.00121646	0.00126395	0.204396	1	0
CFHR5	81494	broad.mit.edu	37	1	196967432	196967432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:196967432C>A	ENST00000367414.5	+	7	1273	c.1217C>A	c.(1216-1218)aCa>aAa	p.T406K	CFHR5_ENST00000256785.4_Missense_Mutation_p.T382K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	382	Sushi 7.				complement activation, alternative pathway	extracellular region		p.T382K(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTAGACTGCACAGGTAAGATT	0.294000													18	84					6.49762e-13	8.41672e-13	0.175082	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1706003	1706003	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:1706003G>T	ENST00000397412.3	+	10	1344	c.1245G>T	c.(1243-1245)gtG>gtT	p.V415V	LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Silent_p.V412V|CRAMP1L_ENST00000293925.5_Silent_p.V415V|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	415						nucleus	DNA binding	p.V415V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TGGCTCGCGTGGTGCACTCCA	0.652000													5	25					0.184627	0.185578	0.184627	1	0
GAK	2580	broad.mit.edu	37	4	905514	905514	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:905514T>A	ENST00000314167.4	-	4	439	c.329A>T	c.(328-330)gAg>gTg	p.E110V	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	110	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.E110V(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTCTGACTCCTCTTTTCCTAT	0.507000													16	200					0	0	0.062417	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:94731788C>T	ENST00000304338.3	+	21	2416	c.2262C>T	c.(2260-2262)ccC>ccT	p.P754P		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.P754P(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCCTGGACCCTCTTCTGTCA	0.358000													18	154					0	0	0.189662	0	0
ENAH	55740	broad.mit.edu	37	1	225699552	225699552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:225699552C>A	ENST00000366844.2	-	10	1883	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	ENAH_ENST00000366843.2_Nonsense_Mutation_p.E478*|ENAH_ENST00000284563.6_Nonsense_Mutation_p.E725*	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	478	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	p.E478*(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTACAGGCTCTGAATCTTCC	0.313000													10	31					3.27435e-08	3.77388e-08	0.119110	1	0
CNTN2	6900	broad.mit.edu	37	1	205042265	205042265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:205042265C>A	ENST00000331830.4	+	22	3198	c.2914C>A	c.(2914-2916)Cca>Aca	p.P972T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	972	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.P972T(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATAGAAATCCCAGTGCCTGA	0.557000													33	111					1.45844e-13	1.91891e-13	0.173368	1	0
SPEG	10290	broad.mit.edu	37	2	220353298	220353298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:220353298G>T	ENST00000312358.7	+	33	8069	c.7937G>T	c.(7936-7938)cGg>cTg	p.R2646L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2646	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2646L(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCATCCCCCGGGCGGGCAAG	0.642000													45	99					7.05377e-20	1.06306e-19	0.139131	1	0
TMEM176A	55365	broad.mit.edu	37	7	150500824	150500824	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:150500824C>T	ENST00000484928.1	+	5	1040	c.459C>T	c.(457-459)atC>atT	p.I153I	TMEM176A_ENST00000461345.1_Silent_p.I94I|TMEM176A_ENST00000004103.3_Silent_p.I153I			Q96HP8	T176A_HUMAN	transmembrane protein 176A	153						integral to membrane		p.I153I(2)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCGCATCTCCAGCTCGA	0.512000													47	103					0	0	0.139131	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775904	77775904	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:77775904G>C	ENST00000521891.2	+	11	10402	c.9954G>C	c.(9952-9954)caG>caC	p.Q3318H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3292H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3273H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3269H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3269						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q3302H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTTgcagcagtaccaacagt	0.527000										HNSCC(33;0.089)			14	22					0	0	0.105934	0	0
PTH2R	5746	broad.mit.edu	37	2	209302554	209302554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:209302554C>A	ENST00000272847.2	+	4	572	c.359C>A	c.(358-360)gCc>gAc	p.A120D	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	120						integral to plasma membrane	parathyroid hormone receptor activity	p.A120D(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AAAACATGGGCCAATTATTCA	0.403000													11	126					6.40141e-05	6.87711e-05	0.080935	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811061	69811061	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:69811061C>T	ENST00000251566.4	-	2	857	c.827G>A	c.(826-828)gGa>gAa	p.G276E	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	276						integral to membrane	glucuronosyltransferase activity	p.G276E(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGCAATCCTCCAACAAACTC	0.368000													29	109					0	0	0.134883	0	0
ZNF592	9640	broad.mit.edu	37	15	85326477	85326477	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:85326477G>C	ENST00000299927.3	+	1	593	c.571G>C	c.(571-573)Gtt>Ctt	p.V191L	ZNF592_ENST00000560079.2_Missense_Mutation_p.V191L			Q92610	ZN592_HUMAN	zinc finger protein 592	191					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V191L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAAGTTTCCGGTTCCAGAGCT	0.537000													90	178					0	0	0.139131	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872401	125872401	+	Silent	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:125872401C>G	ENST00000393434.2	-	7	1093	c.744G>C	c.(742-744)acG>acC	p.T248T	ALDH1L1_ENST00000455064.2_Silent_p.T73T|ALDH1L1_ENST00000452905.2_Silent_p.T147T|ALDH1L1_ENST00000273450.3_Silent_p.T258T|ALDH1L1_ENST00000393431.2_Silent_p.T248T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000472186.1_Silent_p.T248T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	248					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.T248T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGTGTTCAGCGTTGAGTTGA	0.562000													40	134					0	0	0.098360	0	0
ABCA9	10350	broad.mit.edu	37	17	67039769	67039769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:67039769C>A	ENST00000340001.4	-	6	872	c.661G>T	c.(661-663)Gtt>Ttt	p.V221F	ABCA9_ENST00000370732.2_Missense_Mutation_p.V221F|ABCA9_ENST00000453985.2_Missense_Mutation_p.V221F|ABCA9_ENST00000495634.1_Missense_Mutation_p.V221F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	221					transport	integral to membrane	ATP binding|ATPase activity	p.V221F(2)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCAGTTGCAACTCCTCCTTGG	0.328000													41	156					1.47244e-24	2.35551e-24	0.086207	1	0
CPEB1	64506	broad.mit.edu	37	15	83215961	83215961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:83215961G>A	ENST00000563800.1	-	10	3232	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*	CPEB1_ENST00000398591.2_Nonsense_Mutation_p.Q406*|CPEB1_ENST00000398592.2_Nonsense_Mutation_p.Q250*|CPEB1_ENST00000564522.1_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000568757.1_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000450751.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000423133.2_Nonsense_Mutation_p.Q401*|CPEB1_ENST00000562019.1_Nonsense_Mutation_p.Q481*|CPEB1_ENST00000261723.6_Nonsense_Mutation_p.Q479*|RP11-152F13.10_ENST00000562833.1_Silent_p.T210T|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Nonsense_Mutation_p.Q476*			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	481	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.Q406*(2)|p.Q476*(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAACTCCGTTGGTTATTGAAA	0.413000													30	71					0	0	0.134883	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891215	2891215	+	Nonsense_Mutation	SNP	G	G	T	rs150535335	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:2891215G>T	ENST00000254528.3	+	4	1249	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	364					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.G364*(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGCTACCTGGGAGTGATAGA	0.522000													32	122					1.22384e-17	1.75411e-17	0.173368	1	0
ELOVL3	83401	broad.mit.edu	37	10	103988649	103988649	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:103988649A>T	ENST00000370005.3	+	4	674	c.453A>T	c.(451-453)acA>acT	p.T151T		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	151					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.T151T(2)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACCACAGCACAGTGCTCGTGT	0.498000													57	131					0	0	0.139131	0	0
PAXIP1	22976	broad.mit.edu	37	7	154775016	154775016	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:154775016C>A	ENST00000404141.1	-	5	505	c.351G>T	c.(349-351)ctG>ctT	p.L117L	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.L117L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	117	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.L83L(2)|p.L117L(2)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCAAAGCCCACAGGGCACTTC	0.423000													5	42					0.00116845	0.00121514	0.021553	1	0
SLC5A7	60482	broad.mit.edu	37	2	108604640	108604640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:108604640C>A	ENST00000264047.2	+	2	305	c.29C>A	c.(28-30)gCt>gAt	p.A10D	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A10D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	10					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.A10D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGACTGATAGCTATCATCGTG	0.443000													29	132					1.56442e-22	2.4168e-22	0.163468	1	0
OR10S1	219873	broad.mit.edu	37	11	123848123	123848123	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:123848123G>T	ENST00000531945.1	-	1	365	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATGACCTTGGGCACTGTCA	0.547000													6	70					4.68919e-08	5.38866e-08	0.069234	1	0
CHST13	166012	broad.mit.edu	37	3	126255153	126255153	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:126255153G>C	ENST00000319340.2	+	2	187	c.137G>C	c.(136-138)gGg>gCg	p.G46A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	46					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.G46A(2)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGGCTTGGTGGGGAGAAGAGA	0.607000													52	155					0	0	0.139131	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5319167	5319167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:5319167C>A	ENST00000274181.7	+	23	3729	c.3591C>A	c.(3589-3591)tgC>tgA	p.C1197*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1197	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1197*(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCACTGGTGCTACCTGGTAC	0.532000													25	43					9.80776e-20	1.47054e-19	0.116897	1	0
UMODL1	89766	broad.mit.edu	37	21	43524089	43524089	+	Missense_Mutation	SNP	G	G	T	rs150059583		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:43524089G>T	ENST00000400427.1	+	9	1591	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	UMODL1_ENST00000408910.2_Missense_Mutation_p.V471L|UMODL1_ENST00000408989.2_Missense_Mutation_p.V471L|UMODL1_ENST00000400424.1_Missense_Mutation_p.V399L|C21orf128_ENST00000329015.2_Missense_Mutation_p.H48Q	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	471	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.H48Q(4)|p.V399L(2)|p.V471L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGCTCACCGTGCAGGACCC	0.607000													74	212					4.12397e-46	7.80157e-46	0.139131	1	0
PLXND1	23129	broad.mit.edu	37	3	129279567	129279567	+	Splice_Site	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:129279567C>G	ENST00000393239.1	-	30	5172		c.e30-1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(2)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AAGTCTTTCACTGTGAGAGGA	0.483000													27	80					0	0	0.116897	0	0
UNC5B	219699	broad.mit.edu	37	10	73047403	73047403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:73047403G>T	ENST00000335350.6	+	6	1198	c.782G>T	c.(781-783)cGc>cTc	p.R261L	UNC5B_ENST00000373192.4_Missense_Mutation_p.R261L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	261	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.R261L(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCTCCAACCGCTGTGGCCGA	0.667000													18	131					1.56452e-12	2.00006e-12	0.189662	1	0
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	G	C	rs148764513		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:3002623G>C	ENST00000381127.1	+	6	967	c.746G>C	c.(745-747)cGg>cCg	p.R249P	ARSF_ENST00000359361.2_Missense_Mutation_p.R249P|ARSF_ENST00000537104.1_Missense_Mutation_p.R249P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	249						extracellular region	arylsulfatase activity|metal ion binding	p.R249P(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCATGCGGGGGCACGAG	0.493000													27	64					0	0	0.125774	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306857	126306857	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:126306857G>A	ENST00000525144.2	-	12	1650	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	KIRREL3_ENST00000529097.2_Silent_p.R467R|KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000525704.2_Silent_p.R467R	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	467	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R467R(4)|p.R426R(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCACCGTATAGCGCCCCGATG	0.642000													18	26					0	0	0.189662	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719903	52719903	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:52719903A>T	ENST00000322088.6	+	9	1173	c.1115A>T	c.(1114-1116)cAg>cTg	p.Q372L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q317L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q193L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	372	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.Q372L(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TTCCTGGCTCAGCTGAAGGAT	0.552000			Mis		clear cell ovarian carcinoma								37	98					0	0	0.080422	0	0
CALU	813	broad.mit.edu	37	7	128394426	128394426	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:128394426G>T	ENST00000535623.1	+	4	1299	c.356G>T	c.(355-357)cGa>cTa	p.R119L	CALU_ENST00000479257.1_Missense_Mutation_p.R119L|CALU_ENST00000449187.2_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.R111L|CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.R111L	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	111	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	p.R111L(2)		kidney(2)|large_intestine(3)|lung(5)	10						GATGTAGAGCGACAGTGGAAG	0.483000													40	82					4.14481e-20	6.27076e-20	0.086207	1	0
ZNF285	26974	broad.mit.edu	37	19	44891467	44891467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:44891467T>A	ENST00000330997.4	-	4	1004	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K321*|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K314*	NM_152354.3	NP_689567.3			zinc finger protein 285									p.K314*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTGTAGGGTTTGTCTCCTGAG	0.502000													25	188					0	0	0.099896	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644305	45644305	+	RNA	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:45644305T>G	ENST00000427229.2	+	0	476																											TTTGAAGATTTTTACCTAGAA	0.348000													16	30					0	0	0.189662	0	0
TPO	7173	broad.mit.edu	37	2	1544403	1544403	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:1544403G>A	ENST00000345913.4	+	16	2747	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	TPO_ENST00000382201.3_Missense_Mutation_p.E829K|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E713K|TPO_ENST00000346956.3_Missense_Mutation_p.E842K|TPO_ENST00000337415.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.E886K|TPO_ENST00000382198.1_Missense_Mutation_p.E713K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	886					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E886K(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCATCTCGGAGACAGGCGG	0.642000													48	110					0	0	0.139131	0	0
LETMD1	25875	broad.mit.edu	37	12	51442900	51442900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:51442900G>T	ENST00000418425.2	+	2	225	c.206G>T	c.(205-207)gGg>gTg	p.G69V	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.G69V|LETMD1_ENST00000380123.2_Missense_Mutation_p.G69V|LETMD1_ENST00000262055.4_Missense_Mutation_p.G69V|LETMD1_ENST00000550929.1_Missense_Mutation_p.G13V	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	69	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding	p.G69V(2)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCGATTAATGGGAAATACCAT	0.398000													71	92					2.08929e-35	3.76973e-35	0.139131	1	0
RICTOR	253260	broad.mit.edu	37	5	38947422	38947422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:38947422C>A	ENST00000357387.3	-	32	4288	c.4258G>T	c.(4258-4260)Ggt>Tgt	p.G1420C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1444C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1420					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.G1420C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATCTGAACCCCCATATGTG	0.383000													42	301					1.41504e-22	2.19762e-22	0.124865	1	0
MCPH1	79648	broad.mit.edu	37	8	6338368	6338368	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:6338368C>T	ENST00000344683.5	+	11	2183	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	703	BRCT 2.					microtubule organizing center		p.R703C(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAATTGCGCGTGGCTGCTG	0.512000													25	83					0	0	0.091800	0	0
VWA5A	4013	broad.mit.edu	37	11	124007382	124007382	+	Splice_Site	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:124007382G>C	ENST00000456829.2	+	14	1876		c.e14+1		VWA5A_ENST00000392748.1_Splice_Site|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A									p.?(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGATGTCAAGTGAGAATTCA	0.488000													20	194					0	0	0.055883	0	0
EDA2R	60401	broad.mit.edu	37	X	65824892	65824892	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:65824892G>A	ENST00000374719.3	-	3	320	c.264C>T	c.(262-264)ccC>ccT	p.P88P	EDA2R_ENST00000450752.1_Silent_p.P88P|EDA2R_ENST00000456230.2_Silent_p.P88P|EDA2R_ENST00000396050.1_Silent_p.P88P|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000253392.5_Silent_p.P88P	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	88					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.P88P(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCTCACCTGGGCAAACAGT	0.478000													9	16					0	0	0.080935	0	0
MNDA	4332	broad.mit.edu	37	1	158815548	158815548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:158815548C>A	ENST00000368141.4	+	5	1003	c.742C>A	c.(742-744)Cat>Aat	p.H248N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	248	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H248N(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAATATTTCCATGTGAAAGT	0.378000													27	100					7.07758e-08	8.07782e-08	0.099896	1	0
TSPAN33	340348	broad.mit.edu	37	7	128806740	128806740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:128806740C>A	ENST00000289407.4	+	6	690	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	194						integral to membrane		p.P194H(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGCCTACTCCTGACCAGGTG	0.557000													155	359					5.52588e-69	1.08207e-68	0.139131	1	0
SMURF1	57154	broad.mit.edu	37	7	98633309	98633309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:98633309A>C	ENST00000361125.1	-	17	2237	c.1918T>G	c.(1918-1920)Ttg>Gtg	p.L640V	SMURF1_ENST00000361368.2_Missense_Mutation_p.L614V|AC004893.11_ENST00000360902.1_RNA|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	640	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	p.L640V(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CAGTCGTTCAAGTCTATTTTA	0.522000													10	78					0	0	0.093190	0	0
PRKCB	5579	broad.mit.edu	37	16	24046867	24046867	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:24046867C>A	ENST00000303531.7	+	5	680	c.529_splice	c.e5+1	p.L176_splice	PRKCB_ENST00000321728.7_Splice_Site_p.L176_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	176	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.L176L(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCATTGTCCTCGGTAGGTGGC	0.647000													23	125					6.32553e-13	8.21197e-13	0.099896	1	0
LRRC66	339977	broad.mit.edu	37	4	52860545	52860545	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:52860545T>G	ENST00000343457.3	-	4	2649	c.2643A>C	c.(2641-2643)taA>taC	p.*881Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	0						integral to membrane		p.*881Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGATTCTTATTTTAAAA	0.383000													7	114					0	0	0.047766	0	0
REG1P	5969	broad.mit.edu	37	2	79364020	79364020	+	RNA	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:79364020C>A	ENST00000444841.1	-	0	318																											AGCACAGACACCAGGTTACCT	0.517000													4	76					0.150653	0.151559	0.150653	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318931	21318931	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:21318931G>T	ENST00000583088.1	+	3	1172	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A93S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.A93S(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGCCTTCCTTGCCTCCTGGCT	0.622000										Prostate(3;0.18)			10	61					2.32078e-09	2.75623e-09	0.132662	1	0
IGHG1	3500	broad.mit.edu	37	14	106208131	106208131	+	RNA	SNP	C	C	G	rs1127807		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:106208131C>G	ENST00000390548.2	-	0	671																											CTCGGGGCTGCCCTGTAGGGA	0.647000													77	186					0	0	0.139131	0	0
GNAQ	2776	broad.mit.edu	37	9	80537207	80537207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:80537207C>A	ENST00000286548.4	-	2	413	c.191G>T	c.(190-192)gGg>gTg	p.G64V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	64					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.G64V(2)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTATCCTGACCCATGGATGAT	0.483000			Mis		uveal melanoma								45	178					2.68985e-26	4.39918e-26	0.139131	1	0
MDGA2	161357	broad.mit.edu	37	14	47601038	47601038	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:47601038C>T	ENST00000439988.2	-	5	596	c.597G>A	c.(595-597)aaG>aaA	p.K199K	MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000399232.2_Silent_p.K268K			Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	199	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.K268K(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTTTTAAGATCTTTGTTTCAC	0.328000													9	52					0	0	0.047766	0	0
GAS2	2620	broad.mit.edu	37	11	22707259	22707259	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:22707259G>T	ENST00000454584.2	+	3	496	c.191G>T	c.(190-192)gGt>gTt	p.G64V	GAS2_ENST00000433790.1_Missense_Mutation_p.G64V|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000278187.3_Missense_Mutation_p.G64V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	64	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		p.G64V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTGGACAATGGTGCCTTGCTC	0.383000													47	152					8.44121e-28	1.42021e-27	0.139131	1	0
COL25A1	84570	broad.mit.edu	37	4	109861765	109861765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:109861765C>A	ENST00000399132.1	-	10	1132	c.602G>T	c.(601-603)gGc>gTc	p.G201V	COL25A1_ENST00000399127.1_Missense_Mutation_p.G197V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G201V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	201	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G201V(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGAGGGCCAGGGGGTCC	0.562000													11	209					1.58986e-06	1.75801e-06	0.069234	1	0
PCDH17	27253	broad.mit.edu	37	13	58209184	58209184	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:58209184G>C	ENST00000377918.3	+	1	2530	c.2504G>C	c.(2503-2505)aGc>aCc	p.S835T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	835					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S835T(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCCACACCAGCTTCACCGGA	0.577000													7	54					0	0	0.038147	0	0
CD109	135228	broad.mit.edu	37	6	74440084	74440084	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:74440084A>T	ENST00000437994.2	+	4	725	c.294A>T	c.(292-294)gcA>gcT	p.A98A	CD109_ENST00000287097.5_Silent_p.A98A|CD109_ENST00000422508.2_Intron	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	98						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A98A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACAGTGCAGATGAGATTT	0.373000													62	107					0	0	0.139131	0	0
DSG3	1830	broad.mit.edu	37	18	29046538	29046538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:29046538C>A	ENST00000257189.4	+	11	1540	c.1457C>A	c.(1456-1458)cCc>cAc	p.P486H		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	486	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.P486H(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAGAGTACCCGATTTCAAT	0.378000													22	234					1.64293e-13	2.15681e-13	0.083992	1	0
RHOJ	57381	broad.mit.edu	37	14	63671738	63671738	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:63671738G>A	ENST00000316754.3	+	1	613	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Missense_Mutation_p.V51M	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	51					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.V51M(3)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAGGAATACGTGCCCACTGT	0.557000													14	96					0	0	0.160694	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651332	1651332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:1651332G>T	ENST00000399676.2	+	1	300	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	88	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G88C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCAAAGGGGGCTGTGGCTC	0.662000													41	290					1.19451e-25	1.93736e-25	0.139131	1	0
NPY2R	4887	broad.mit.edu	37	4	156135962	156135962	+	Missense_Mutation	SNP	G	G	T	rs147783618		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:156135962G>T	ENST00000329476.3	+	2	1360	c.871G>T	c.(871-873)Gtt>Ttt	p.V291F	NPY2R_ENST00000506608.1_Missense_Mutation_p.V291F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	291					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.V291F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAGCTTGCCGTTGACATTGA	0.527000													23	66					3.7963e-18	5.49502e-18	0.083992	1	0
LCE4A	199834	broad.mit.edu	37	1	152681629	152681629	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152681629C>T	ENST00000368777.1	+	2	334	c.78C>T	c.(76-78)ccC>ccT	p.P26P	LCE4A_ENST00000335535.3_Silent_p.P26P			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	26	Cys-rich.				keratinization			p.P26P(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CAAAATGTCCCTCAAAGTGTG	0.572000													74	301					0	0	0.139131	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961521	51961521	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:51961521G>T	ENST00000321424.3	-	1	187	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L41M|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L41M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	41	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L41M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGACACACAGGCCCTCCTGC	0.597000													55	146					1.77205e-36	3.21716e-36	0.139131	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202398051	202398051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:202398051G>T	ENST00000406302.3	+	6	1068	c.915G>T	c.(913-915)caG>caT	p.Q305H	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q305H|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.Q305H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	305					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.Q305H(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGAAGAAGCAGAATGTGGTGA	0.453000													14	53					0.000308642	0.000324726	0.132662	1	0
MED13	9969	broad.mit.edu	37	17	60064385	60064385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:60064385C>T	ENST00000397786.2	-	12	2444	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	790					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCATCTTCATCAGAATTGAAG	0.338000													4	74					0	0	0.150653	0	0
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	G	A	rs138053380		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:50683801G>A	ENST00000442544.2	+	8	1953	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DCC_ENST00000412726.1_Missense_Mutation_p.R294H|DCC_ENST00000581580.1_Missense_Mutation_p.R101H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	446	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R446H(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGATTTGTCCGTCTCAGCTGG	0.517000													12	263					0	0	0.093190	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588903	61588903	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:61588903T>C	ENST00000370349.3	+	4	554	c.350T>C	c.(349-351)tTc>tCc	p.F117S	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.F123S			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	123					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.F123S(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTCATGACCTTCTCACGCATC	0.647000													14	52					0	0	0.132662	0	0
TRAK1	22906	broad.mit.edu	37	3	42233088	42233088	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:42233088G>A	ENST00000327628.5	+	7	1129	c.729G>A	c.(727-729)gaG>gaA	p.E243E	TRAK1_ENST00000341421.3_Silent_p.E185E|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.E169E|TRAK1_ENST00000396175.1_Silent_p.E185E	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	243	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTATGAGGAGAAGGAGCAGC	0.547000											OREG0015501	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	18					0	0	0.184627	0	0
DEPDC7	91614	broad.mit.edu	37	11	33054339	33054339	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:33054339G>A	ENST00000311388.3	+	7	1612	c.1236_splice	c.e7+1	p.K412_splice	DEPDC7_ENST00000241051.3_Splice_Site_p.K421_splice	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	421					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.K421K(2)|p.K412K(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ATGTTTTTAAGGTAAAATTGT	0.294000													54	159					0	0	0.139131	0	0
GDNF	2668	broad.mit.edu	37	5	37815930	37815930	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:37815930C>A	ENST00000326524.2	-	3	658	c.459G>T	c.(457-459)gaG>gaT	p.E153D	GDNF_ENST00000427982.1_Missense_Mutation_p.E170D|GDNF_ENST00000344622.4_Missense_Mutation_p.E127D|GDNF_ENST00000515058.1_Missense_Mutation_p.E127D|GDNF_ENST00000381826.4_Missense_Mutation_p.E144D	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	p.E170D(2)|p.E153D(2)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTACGTTGTCTCAGCTGCAT	0.443000													55	267					8.99859e-20	1.35441e-19	0.139131	1	0
LAMA2	3908	broad.mit.edu	37	6	129511367	129511367	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:129511367A>T	ENST00000421865.2	+	11	1534	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	495	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G495G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAAGGAGGAGACTGTAGTC	0.403000													40	100					0	0	0.104719	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803646	142803646	+	RNA	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:142803646G>A	ENST00000423385.1	-	0	1319																											gttgtattctgggctagacat	0.299000													13	40					0	0	0.105934	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530120	80530120	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:80530120C>A	ENST00000295057.3	-	2	1481	c.825G>T	c.(823-825)gtG>gtT	p.V275V	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.V275V|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	275						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V275V(4)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGTCTCGAACACATGGGGCT	0.582000										HNSCC(69;0.2)			29	86					5.60225e-13	7.28915e-13	0.144211	1	0
ARMC5	79798	broad.mit.edu	37	16	31471201	31471201	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:31471201C>T	ENST00000457010.2	+	1	1057	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ARMC5_ENST00000563544.1_Missense_Mutation_p.P119L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P151L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P119L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P214L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	119							binding	p.P214L(2)|p.P119L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCGTCTAGTCCTACGCCGCCA	0.726000													9	41					0	0	0.058154	0	0
OR2M7	391196	broad.mit.edu	37	1	248487614	248487614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248487614A>T	ENST00000317965.2	-	1	285	c.257T>A	c.(256-258)tTg>tAg	p.L86*		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L86*(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCCAGACAAGTAGTTGAA	0.493000													172	461					0	0	0.139131	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75932301	75932301	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:75932301T>A	ENST00000262207.4	+	12	1699	c.1231T>A	c.(1231-1233)Tca>Aca	p.S411T	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S225T|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S223T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	411	LCCL 2.					extracellular region		p.S411T(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAGCCTGCTTCACATTGCCC	0.413000													11	164					0	0	0.069234	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414155	38414155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:38414155C>A	ENST00000377694.1	-	2	528	c.506G>T	c.(505-507)gGg>gTg	p.G169V		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	169	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding	p.G169V(2)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CACCTGCGCCCCGGTGACGTT	0.577000													28	150					7.41945e-09	8.6795e-09	0.108266	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:46032564G>T	ENST00000334662.2	+	1	569	c.547G>T	c.(547-549)Gct>Tct	p.A183S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A183S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGGGCTTCCTCTCT	0.632000													100	255					9.98717e-52	1.90472e-51	0.139131	1	0
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652000													16	44					0	0	0.146539	0	0
LIG4	3981	broad.mit.edu	37	13	108861585	108861585	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:108861585G>A	ENST00000356922.4	-	2	2304	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	LIG4_ENST00000442234.1_Silent_p.L678L|LIG4_ENST00000405925.1_Silent_p.L678L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	678	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.L678L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGTTCTCCAGGTCAGGCTTT	0.383000								Non-homologous end-joining					21	105					0	0	0.062417	0	0
DCHS2	54798	broad.mit.edu	37	4	155298498	155298498	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:155298498G>T	ENST00000357232.3	-	3	332	c.333C>A	c.(331-333)atC>atA	p.I111I	DCHS2_ENST00000339452.1_Silent_p.I717I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	111	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I111I(2)|p.I717I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGAGGGTCGATCCGGAATG	0.463000													32	134					8.16721e-17	1.1495e-16	0.153744	1	0
LRRC7	57554	broad.mit.edu	37	1	70504811	70504811	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:70504811A>G	ENST00000310961.5	+	22	3623	c.3205A>G	c.(3205-3207)Aaa>Gaa	p.K1069E	LRRC7_ENST00000415775.2_Missense_Mutation_p.K348E|LRRC7_ENST00000035383.5_Missense_Mutation_p.K1064E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1064						centrosome|focal adhesion|nucleolus	protein binding	p.K1064E(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCAGCAAAAACATCGC	0.463000													27	58					0	0	0.125774	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936140	94936140	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:94936140C>G	ENST00000337425.5	-	2	166	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G31A|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.G13A|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000539349.1_5'UTR	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	13					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.G31A(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGCACAGAGGCCAACAGCAAA	0.517000													45	114					0	0	0.139131	0	0
C9orf72	203228	broad.mit.edu	37	9	27556699	27556699	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:27556699C>T	ENST00000380003.3	-	8	1014	c.951G>A	c.(949-951)caG>caA	p.Q317Q	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	317								p.Q317Q(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AGGGTGGCATCTGCTTCACAG	0.473000													26	297					0	0	0.108266	0	0
VSNL1	7447	broad.mit.edu	37	2	17836616	17836616	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:17836616C>A	ENST00000406397.1	+	4	1056	c.531C>A	c.(529-531)agC>agA	p.S177R	VSNL1_ENST00000295156.4_Missense_Mutation_p.S177R|VSNL1_ENST00000404666.2_Missense_Mutation_p.S177R			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4.						calcium ion binding	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443000													22	137					5.35047e-06	5.87198e-06	0.083992	1	0
HSPH1	10808	broad.mit.edu	37	13	31713001	31713001	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:31713001C>T	ENST00000320027.5	-	16	2469	c.2125G>A	c.(2125-2127)Gct>Act	p.A709T	HSPH1_ENST00000429785.2_Missense_Mutation_p.A528T|HSPH1_ENST00000380405.4_Missense_Mutation_p.A665T|HSPH1_ENST00000445273.2_Missense_Mutation_p.A711T|HSPH1_ENST00000380406.5_Missense_Mutation_p.A668T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	709					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.A709T(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGTTCTTCAGCTTCCTGAAAC	0.328000													21	144					0	0	0.076483	0	0
XIST	7503	broad.mit.edu	37	X	73066574	73066574	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:73066574G>T	ENST00000429829.1	-	0	6014					NR_001564.2																						ACACATATTGGGAGGCCAAGA	0.468000													15	97					2.62699e-14	3.51165e-14	0.132662	1	0
CLCN4	1183	broad.mit.edu	37	X	10176257	10176257	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:10176257G>C	ENST00000380833.4	+	9	1407	c.1016G>C	c.(1015-1017)gGg>gCg	p.G339A	CLCN4_ENST00000380829.1_Intron|CLCN4_ENST00000421085.2_Missense_Mutation_p.G245A	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	339						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.G339A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCCTGCTTGGGGTCTTCGGG	0.572000													10	224					0	0	0.069234	0	0
LTBP1	4052	broad.mit.edu	37	2	33359928	33359928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:33359928G>T	ENST00000404816.2	+	5	1455	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	LTBP1_ENST00000354476.3_Missense_Mutation_p.G368C|LTBP1_ENST00000407925.1_Missense_Mutation_p.G42C|LTBP1_ENST00000404525.1_Missense_Mutation_p.G42C|LTBP1_ENST00000418533.2_Missense_Mutation_p.G42C|LTBP1_ENST00000402934.1_Missense_Mutation_p.G42C|LTBP1_ENST00000390003.4_Missense_Mutation_p.G42C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	368					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G368C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACCAAGGGCAGCTGTCA	0.547000													23	92					2.32416e-17	3.31497e-17	0.069288	1	0
FREM1	158326	broad.mit.edu	37	9	14748528	14748528	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:14748528G>T	ENST00000380881.4	-	32	6485	c.5670C>A	c.(5668-5670)tcC>tcA	p.S1890S	FREM1_ENST00000422223.2_Silent_p.S1889S|FREM1_ENST00000380880.3_Silent_p.S1889S|FREM1_ENST00000380894.1_Silent_p.S425S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1889					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGATGAAAGGAACCAGAAG	0.507000													9	445					3.09899e-07	3.48599e-07	0.047766	1	0
ZNF268	10795	broad.mit.edu	37	12	133779410	133779410	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:133779410A>T	ENST00000536435.2	+	6	1468	c.1138A>T	c.(1138-1140)Aaa>Taa	p.K380*	ZNF268_ENST00000228289.5_Nonsense_Mutation_p.K380*|ZNF268_ENST00000537565.1_Nonsense_Mutation_p.K219*|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	380						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q379_K380>H*(2)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTCACACCAGAAAACTCATTC	0.388000													19	23					0	0	0.175082	0	0
GRID1	2894	broad.mit.edu	37	10	87628799	87628799	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:87628799C>A	ENST00000327946.7	-	6	1004	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	307						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D307Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCTGGGGGTCGCAGAGCAGG	0.582000										Multiple Myeloma(13;0.14)			75	97					7.97268e-31	1.38311e-30	0.139131	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125555897	125555897	+	Splice_Site	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:125555897G>A	ENST00000431078.1	+	19	3578	c.3214_splice	c.e19+1	p.G1072_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1072	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1072S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGCAAGAATGGTGAGTGTGA	0.498000													13	52					0	0	0.093190	0	0
TRAV16	28667	broad.mit.edu	37	14	22459119	22459119	+	RNA	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:22459119C>T	ENST00000390444.1	+	0	271																											ATCTTTCCACCTGAAGAAACC	0.463000													18	26					0	0	0.189662	0	0
LPPR4	9890	broad.mit.edu	37	1	99767413	99767413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:99767413A>C	ENST00000370185.3	+	6	1423	c.926A>C	c.(925-927)tAt>tCt	p.Y309S	LPPR4_ENST00000370184.1_Missense_Mutation_p.Y151S|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309							phosphatidate phosphatase activity	p.Y309S(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTTGATGTCTATTGTGGCTTT	0.358000													25	156					0	0	0.116897	0	0
RSPO2	340419	broad.mit.edu	37	8	109001368	109001368	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:109001368C>A	ENST00000517939.1	-	0	194				RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000276659.5_Missense_Mutation_p.G67W			Q6UXX9	RSPO2_HUMAN	R-spondin 2						Wnt receptor signaling pathway	extracellular region	heparin binding	p.G67W(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGGCGCATCCCTTCTCTTCGA	0.468000													87	143					2.93434e-44	5.51542e-44	0.139131	1	0
FCRLA	84824	broad.mit.edu	37	1	161680697	161680697	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:161680697C>A	ENST00000367959.2	+	3	538	c.296C>A	c.(295-297)tCc>tAc	p.S99Y	FCRLA_ENST00000236938.6_Missense_Mutation_p.S93Y|FCRLA_ENST00000349527.4_Missense_Mutation_p.S76Y|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.S82Y|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.S76Y|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Missense_Mutation_p.S93Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.S53Y|FCRLA_ENST00000540926.1_Missense_Mutation_p.S82Y|FCRLA_ENST00000367949.2_Missense_Mutation_p.S93Y	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.S99*(2)|p.S76*(2)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGATTGTGTCCTATGGTGAG	0.557000													36	172					6.29468e-14	8.33832e-14	0.214465	1	0
CUBN	8029	broad.mit.edu	37	10	16873350	16873350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:16873350G>T	ENST00000377833.4	-	65	10494	c.10429C>A	c.(10429-10431)Cct>Act	p.P3477T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3477	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P3477T(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAAGACAGGGTTTGGCAGC	0.393000													54	140					1.67886e-27	2.80448e-27	0.139131	1	0
HHATL	57467	broad.mit.edu	37	3	42738369	42738369	+	Splice_Site	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:42738369C>A	ENST00000441594.1	-	9	1272	c.1010_splice	c.e9-1	p.T337_splice	HHATL_ENST00000310417.5_Splice_Site_p.T337_splice	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	337					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		p.T337T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGTCAAAGTGCCTGTAAGAGG	0.612000													12	36					2.27111e-07	2.56211e-07	0.093190	1	0
GLRX3	10539	broad.mit.edu	37	10	131958334	131958334	+	Splice_Site	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:131958334G>T	ENST00000368644.1	+	3	298		c.e3+1		GLRX3_ENST00000331244.5_Splice_Site	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3						cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	p.?(4)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GTTTTTCAAGGTAAGGATAAA	0.368000													60	104					3.76997e-23	5.91774e-23	0.139131	1	0
LPA	4018	broad.mit.edu	37	6	160977165	160977165	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:160977165T>A	ENST00000447678.1	-	31	4985	c.4865A>T	c.(4864-4866)cAg>cTg	p.Q1622L	LPA_ENST00000316300.5_Missense_Mutation_p.Q1622L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4130	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Q1622L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGATAACTCTGGCCATTACC	0.483000													63	139					0	0	0.139131	0	0
TAF1L	138474	broad.mit.edu	37	9	32633787	32633787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:32633787C>A	ENST00000242310.4	-	1	1880	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	597					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCGAAGACCCTGTTGCTTGG	0.483000													103	325					2.19198e-39	4.04221e-39	0.139131	1	0
PROC	5624	broad.mit.edu	37	2	128183674	128183674	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:128183674T>A	ENST00000453608.2	+	6	722	c.714T>A	c.(712-714)tgT>tgA	p.C238*	PROC_ENST00000409048.1_Nonsense_Mutation_p.C217*|PROC_ENST00000234071.3_Nonsense_Mutation_p.C183*|PROC_ENST00000422777.3_Nonsense_Mutation_p.C183*			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	183	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	p.C183*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGTTCCCTTGTGGGAGGCCCT	0.597000													34	92					0	0	0.173368	0	0
NLRC4	58484	broad.mit.edu	37	2	32477681	32477681	+	Silent	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:32477681G>T	ENST00000404025.2	-	4	557	c.69C>A	c.(67-69)atC>atA	p.I23I	NLRC4_ENST00000360906.5_Silent_p.I23I|NLRC4_ENST00000342905.6_Silent_p.I23I|NLRC4_ENST00000402280.1_Silent_p.I23I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	23	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I23I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTCATCTGTGATTTGCTTTA	0.393000													59	148					3.53049e-34	6.3408e-34	0.139131	1	0
COL4A2	1284	broad.mit.edu	37	13	111132683	111132683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:111132683G>T	ENST00000360467.5	+	31	3010	c.2704G>T	c.(2704-2706)Gga>Tga	p.G902*		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	902	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G902*(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGCCATCCAGGAAGCCCTGG	0.592000													25	105					1.32003e-05	1.43258e-05	0.108266	1	0
OR2W3	343171	broad.mit.edu	37	1	248059622	248059622	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248059622T>A	ENST00000537741.1	+	3	991	c.734T>A	c.(733-735)cTc>cAc	p.L245H	OR2W3_ENST00000360358.3_Missense_Mutation_p.L245H			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245H(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCCATCTCACTGTGGTC	0.512000													19	272					0	0	0.189662	0	0
PALB2	79728	broad.mit.edu	37	16	23634330	23634330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:23634330C>A	ENST00000261584.4	-	9	3108	c.2956G>T	c.(2956-2958)Gat>Tat	p.D986Y	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	986	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.D986Y(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTTGTTGATCAGAAAGGGTC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					55	215					5.19286e-32	9.10305e-32	0.139131	1	0
PCYT1B	9468	broad.mit.edu	37	X	24597530	24597530	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:24597530T>A	ENST00000379145.1	-	6	601	c.557A>T	c.(556-558)gAc>gTc	p.D186V	PCYT1B_ENST00000356768.4_Missense_Mutation_p.D204V|PCYT1B_ENST00000379144.2_Missense_Mutation_p.D204V|PCYT1B_ENST00000492876.1_5'UTR	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	204	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.D204V(4)|p.D186V(2)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGTAATGATGTCCGATGTTGA	0.428000													71	90					0	0	0.139131	0	0
SRRM2	23524	broad.mit.edu	37	16	2814828	2814828	+	Silent	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:2814828A>G	ENST00000301740.8	+	11	4848	c.4299A>G	c.(4297-4299)agA>agG	p.R1433R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1433	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTTACCCAGAACTCCATCAA	0.512000													15	368					0	0	0.119110	0	0
REG3A	5068	broad.mit.edu	37	2	79384728	79384728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:79384728C>T	ENST00000393878.1	-	4	684	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	REG3A_ENST00000409839.3_Missense_Mutation_p.G144S|REG3A_ENST00000305165.2_Missense_Mutation_p.G144S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	144	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G144S(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCACAGTGGCCGGGGCTTGAG	0.542000													7	164					0	0	0.047766	0	0
MUC21	394263	broad.mit.edu	37	6	30954905	30954905	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:30954905C>A	ENST00000376296.3	+	2	1194	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	318	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S318Y(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGACTCCAGC	0.612000													24	205					1.39806e-14	1.87528e-14	0.134883	1	0
MYB	4602	broad.mit.edu	37	6	135539023	135539023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:135539023C>A	ENST00000341911.5	+	16	2390	c.2191C>A	c.(2191-2193)Cct>Act	p.P731T	MYB_ENST00000367814.4_Missense_Mutation_p.P610T|MYB_ENST00000525369.1_Missense_Mutation_p.P525T|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000533624.1_Missense_Mutation_p.P575T|MYB_ENST00000534044.1_Missense_Mutation_p.P573T|MYB_ENST00000316528.8_Missense_Mutation_p.P696T|MYB_ENST00000534121.1_Missense_Mutation_p.P715T|MYB_ENST00000442647.2_Missense_Mutation_p.P607T|MYB_ENST00000528774.1_Missense_Mutation_p.P728T	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	610					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.P731T(2)|p.P610T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCTGGGAACCTGCATCCTG	0.517000			T	NFIB	adenoid cystic carcinoma								61	160					6.20203e-27	1.02003e-26	0.139131	1	0
NPC1	4864	broad.mit.edu	37	18	21140248	21140248	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:21140248G>A	ENST00000269228.5	-	6	1382	c.828C>T	c.(826-828)taC>taT	p.Y276Y	NPC1_ENST00000412552.2_Silent_p.Y9Y|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	276					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.Y276Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACGCCATGTAGGTGATCC	0.507000													7	112					0	0	0.038147	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661623	113661623	+	RNA	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:113661623G>T	ENST00000393544.2	+	0	1671																											TAGGAAGCCAGACTCCACTGC	0.507000													26	70					4.3181e-19	6.37641e-19	0.173368	1	0
NHSL2	340527	broad.mit.edu	37	X	71360426	71360426	+	Missense_Mutation	SNP	G	G	T	rs140270842		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chrX:71360426G>T	ENST00000373677.1	+	2	3192	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	NHSL2_ENST00000540800.1_Missense_Mutation_p.V1010L|NHSL2_ENST00000535692.1_Missense_Mutation_p.V644L|NHSL2_ENST00000510661.1_Missense_Mutation_p.V779L			F5H593	F5H593_HUMAN	NHS-like 2	1010								p.V1010L(2)|p.V641L(2)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAAACCCAGCGTGCTGTACCT	0.532000													23	23					1.55795e-14	2.08736e-14	0.062417	1	0
RABL3	285282	broad.mit.edu	37	3	120417341	120417341	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr3:120417341T>A	ENST00000273375.3	-	5	492	c.463A>T	c.(463-465)Aca>Tca	p.T155S	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.T155S	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	155	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.T155S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TGGCGCTTTGTTTCATGAATC	0.358000													158	482					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179589035	179589035	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179589035G>T	ENST00000589042.1	-	72	21291	c.21067C>A	c.(21067-21069)Caa>Aaa	p.Q7023K	TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q5779K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6706K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6706	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTATTTTGAACCTGGAAA	0.393000													4	57					0.00024832	0.000261966	0.150653	1	0
HAS2	3037	broad.mit.edu	37	8	122641133	122641133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:122641133T>A	ENST00000303924.4	-	2	985	c.448A>T	c.(448-450)Aac>Tac	p.N150Y		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	150						integral to plasma membrane	hyaluronan synthase activity	p.N150Y(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGAAGTTGTTCTTCCAGATA	0.438000													45	739					0	0	0.139131	0	0
BCAS1	8537	broad.mit.edu	37	20	52612502	52612502	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:52612502C>A	ENST00000395961.3	-	5	977	c.811G>T	c.(811-813)Gca>Tca	p.A271S	BCAS1_ENST00000371435.2_Missense_Mutation_p.A271S|BCAS1_ENST00000371440.3_Missense_Mutation_p.A271S|BCAS1_ENST00000434986.2_5'UTR	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	271						cytoplasm	protein binding	p.A271S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCGTCCTTTGCAGTCTCCAGT	0.473000													33	108					3.21399e-22	4.95209e-22	0.214465	1	0
SLC12A5	57468	broad.mit.edu	37	20	44670048	44670048	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:44670048C>T	ENST00000454036.1	+	8	1080	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.T312M|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	335					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAATGAGACGGTGACCACA	0.552000													9	117					0	0	0.047766	0	0
BMP7	655	broad.mit.edu	37	20	55748235	55748235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:55748235C>A	ENST00000450594.2	-	6	1673	c.1167G>T	c.(1165-1167)tgG>tgT	p.W389C	BMP7_ENST00000395863.3_Intron|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_Intron			P18075	BMP7_HUMAN	bone morphogenetic protein 7	247					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TGACCACACCCCAAGATGGCG	0.617000													11	40					3.07112e-06	3.38314e-06	0.080935	1	0
ABCC9	10060	broad.mit.edu	37	12	22089557	22089557	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:22089557C>G	ENST00000261200.4	-	1	51	c.52G>C	c.(52-54)Ggt>Cgt	p.G18R	ABCC9_ENST00000538350.1_Missense_Mutation_p.G18R|ABCC9_ENST00000345162.2_Missense_Mutation_p.G18R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G18R|ABCC9_ENST00000326684.4_Missense_Mutation_p.G18R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	18					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G18R(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGTAGTACACCATCGTTGATA	0.338000													23	72					0	0	0.069288	0	0
MSC	9242	broad.mit.edu	37	8	72754932	72754932	+	Silent	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:72754932A>T	ENST00000325509.4	-	2	874	c.585T>A	c.(583-585)gtT>gtA	p.V195V	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	195					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V195V(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGGCTGCGGAAACTTCTTTGG	0.468000													399	753					0	0	0.139131	0	0
SCG2	7857	broad.mit.edu	37	2	224463262	224463262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:224463262C>A	ENST00000305409.2	-	2	971	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	247					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.G247*(2)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGTCTTCTCCCCCGACCACA	0.413000													111	330					1.67525e-54	3.23715e-54	0.139131	1	0
RYR2	6262	broad.mit.edu	37	1	237729943	237729943	+	Silent	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:237729943G>A	ENST00000366574.2	+	28	3608	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	RYR2_ENST00000360064.6_Silent_p.K1095K|RYR2_ENST00000542537.1_Silent_p.K1081K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1097	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K1095K(2)|p.K1095N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGTGAAGGCCGGACGGT	0.557000													67	163					0	0	0.139131	0	0
NFAT5	10725	broad.mit.edu	37	16	69660388	69660388	+	Silent	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:69660388C>T	ENST00000432919.1	+	3	1418	c.210C>T	c.(208-210)agC>agT	p.S70S	NFAT5_ENST00000354436.2_Silent_p.S52S|NFAT5_ENST00000349945.1_5'UTR|NFAT5_ENST00000567239.1_Silent_p.S70S|NFAT5_ENST00000566899.1_5'UTR|NFAT5_ENST00000393742.2_5'UTR	NM_001113178.2|NM_138713.3	NP_001106649.1|NP_619727.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	52	Ser-rich.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S70S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCAGACAAGCGGTGGTGAGG	0.448000													9	127					0	0	0.093190	0	0
TENM2	57451	broad.mit.edu	37	5	167525048	167525048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:167525048C>A	ENST00000519204.1	+	8	1484	c.1366C>A	c.(1366-1368)Cca>Aca	p.P456T	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.P410T|TENM2_ENST00000520394.1_Missense_Mutation_p.P345T|TENM2_ENST00000545108.1_Missense_Mutation_p.P577T|TENM2_ENST00000518659.1_Missense_Mutation_p.P577T					teneurin transmembrane protein 2									p.P577T(2)|p.P410T(2)|p.P456T(2)									GCAGGACTGTCCACGTAACTG	0.453000													16	39					0.000566183	0.000593555	0.160694	1	0
NNMT	4837	broad.mit.edu	37	11	114183054	114183054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:114183054G>T	ENST00000535401.1	+	5	914	c.650G>T	c.(649-651)gGc>gTc	p.G217V	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_Missense_Mutation_p.G22V|NNMT_ENST00000541754.1_Missense_Mutation_p.G22V|NNMT_ENST00000299964.3_Missense_Mutation_p.G217V|NNMT_ENST00000545255.1_Missense_Mutation_p.G22V			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	217					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.G217V(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTCCCCCTGGGCCGGGAGGCA	0.547000													11	130					2.61681e-11	3.26683e-11	0.119110	1	0
OR8J1	219477	broad.mit.edu	37	11	56128272	56128272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:56128272C>A	ENST00000303039.3	+	1	582	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TAATGTTCCTCTGTTAGCATT	0.333000													29	98					9.39395e-14	1.24017e-13	0.116897	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784676	140784676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:140784676G>T	ENST00000573521.1	+	1	2157	c.2157G>T	c.(2155-2157)tgG>tgT	p.W719C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGCACTGGCACTCCTCGC	0.587000													33	84					1.30897e-18	1.91123e-18	0.144211	1	0
OR4D6	219983	broad.mit.edu	37	11	59224639	59224639	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:59224639T>C	ENST00000300127.2	+	1	229	c.206T>C	c.(205-207)cTg>cCg	p.L69P		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69P(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AAATCAGTCCTGGACATCGTT	0.463000													49	121					0	0	0.139131	0	0
DSEL	92126	broad.mit.edu	37	18	65178391	65178391	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr18:65178391G>A	ENST00000310045.7	-	2	4958	c.3485C>T	c.(3484-3486)gCt>gTt	p.A1162V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1152						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTTAAACTAGCAGGAGACAA	0.373000													4	75					0	0	0.184627	0	0
GRK5	2869	broad.mit.edu	37	10	121212231	121212231	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:121212231A>T	ENST00000392870.2	+	14	1782	c.1453A>T	c.(1453-1455)Act>Tct	p.T485S	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Missense_Mutation_p.T380S	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	485	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCAGTTCTCCACTGTGAAGGG	0.607000													6	89					0	0	0.029380	0	0
NCAPH	23397	broad.mit.edu	37	2	97008585	97008585	+	Splice_Site	SNP	A	A	G			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:97008585A>G	ENST00000455200.1	+	4	717	c.423_splice	c.e4+1	p.K141_splice	NCAPH_ENST00000240423.4_Splice_Site_p.K152_splice|NCAPH_ENST00000427946.1_Splice_Site_p.K16_splice			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	152					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.K152R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACCAACTTTAAAGTAAGAAGG	0.348000													7	70					0	0	0.029380	0	0
SCN9A	6335	broad.mit.edu	37	2	167133545	167133545	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:167133545T>A	ENST00000303354.6	-	16	3165	c.2825A>T	c.(2824-2826)cAa>cTa	p.Q942L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.Q941L|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q942L|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q930L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	941						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q930L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCACATAGCTTGACCAGCGAC	0.448000													56	269					0	0	0.139131	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750472	41750472	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:41750472C>A	ENST00000226382.2	-	1	515	c.156G>T	c.(154-156)ggG>ggT	p.G52G	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	52					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G52G(2)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CGGACGTGGCCCCAAAAGTGG	0.627000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				9	75					0.000673444	0.000704739	0.069234	1	0
ZNF560	147741	broad.mit.edu	37	19	9578614	9578614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:9578614C>A	ENST00000301480.4	-	10	1222	c.1009G>T	c.(1009-1011)Gta>Tta	p.V337L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V337L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCAACATTTACAGCATGGCTT	0.388000													5	134					0.000157383	0.000166332	0.038147	1	0
C9orf131	138724	broad.mit.edu	37	9	35045842	35045842	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:35045842C>A	ENST00000312292.5	+	2	3263	c.3216C>A	c.(3214-3216)ccC>ccA	p.P1072P	C9orf131_ENST00000354479.5_Silent_p.P999P|C9orf131_ENST00000421362.2_Silent_p.P1024P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1072								p.P1072P(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCATCGACCCCTACCCACCA	0.517000													83	245					1.19347e-43	2.23251e-43	0.139131	1	0
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:35836516C>A	ENST00000085219.5	+	12	2286	c.2220C>A	c.(2218-2220)gcC>gcA	p.A740A	CD22_ENST00000419549.2_Silent_p.A568A|CD22_ENST00000544992.2_Intron|CD22_ENST00000270311.6_Intron|CD22_ENST00000536635.2_Silent_p.A652A|CD22_ENST00000594250.1_Silent_p.A563A|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000341773.6_Silent_p.A563A	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	740					cell adhesion		protein binding|sugar binding	p.A740A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTAGAAGGGCCCCCCTCTCTG	0.582000													39	66					1.49673e-21	2.29108e-21	0.086207	1	0
USHBP1	83878	broad.mit.edu	37	19	17373540	17373540	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:17373540C>T	ENST00000252597.3	-	4	636	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	USHBP1_ENST00000431146.2_Missense_Mutation_p.G91R|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	155							PDZ domain binding	p.G155R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTGCTCCCCCTTCGCTTGTG	0.687000													56	114					0	0	0.139131	0	0
ACTG1	71	broad.mit.edu	37	17	79479156	79479156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:79479156C>A	ENST00000575842.1	-	2	562	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	ACTG1_ENST00000575087.1_Missense_Mutation_p.G46C|ACTG1_ENST00000573283.1_Missense_Mutation_p.G46C|ACTG1_ENST00000331925.2_Missense_Mutation_p.G46C			P63261	ACTG_HUMAN	actin, gamma 1	46					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G46C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGGCCCATGCCCACCATGACG	0.667000													55	128					5.39261e-20	8.13756e-20	0.139131	1	0
RERE	473	broad.mit.edu	37	1	8716109	8716109	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:8716109delT	ENST00000337907.3	-	3	882	c.248delA	c.(247-249)agfs	p.K83fs	RERE_ENST00000400907.2_Frame_Shift_Del_p.K83fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	83					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATAACGAGACTTTTTTTTCGG	0.453													7	1346	---	---	---	---					
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:31406073_31406074insG	ENST00000373747.3	-	22	3653_3654	c.3554_3555insC	c.(3553-3555)caafs	p.Q1185fs	PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525													7	609	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													8	284	---	---	---	---					
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)del	p.E433del	ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414													7	333	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													10	180	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													13	527	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609													7	378	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													7	649	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													10	1159	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													18	261	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													14	344	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													12	272	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								9	272	---	---	---	---					
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													9	138	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													17	200	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													37	651	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													8	202	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													7	226	---	---	---	---					
SPAG17	200162	broad.mit.edu	37	1	118583386	118583387	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:118583386_118583387insC	ENST00000336338.5	-	22	3197_3198	c.3132_3133insG	c.(3130-3135)ggagatfs	p.D1045fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1045						cilium|flagellar axoneme|microtubule		p.Q1045K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTCAATCTGCCCCCCATCAG	0.371													7	371	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													7	555	---	---	---	---					
CELF3	11189	broad.mit.edu	37	1	151680126	151680127	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151680126_151680127insG	ENST00000290583.4	-	7	1424		c.e7-2		RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_Splice_Site|CELF3_ENST00000392706.3_Splice_Site|CELF3_ENST00000290585.4_Splice_Site	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3						nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CTGCATCAGCTGGGGGGAGGGG	0.693													2	4	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:156708444_156708445insG	ENST00000368211.4	-	2	190_191	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													9	81	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													37	1371	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													7	2025	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160593935	160593936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:160593935_160593936insC	ENST00000302035.6	-	4	1089_1090	c.740_741insG	c.(739-741)ggtfs	p.G247fs	SLAMF1_ENST00000355199.3_Frame_Shift_Ins_p.G247fs|SLAMF1_ENST00000538290.1_Frame_Shift_Ins_p.G247fs|SLAMF1_ENST00000235739.5_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	247					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCATGATGACACCCCCTAACAG	0.391													8	2329	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													11	356	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													7	451	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													7	275	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)gctfs	p.A252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.540													11	413	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													13	600	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			8	692	---	---	---	---					
RAB3GAP2	25782	broad.mit.edu	37	1	220406172	220406172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:220406172delC	ENST00000358951.2	-	2	265	c.149delG	c.(148-150)gafs	p.G50fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	50					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTCCCATGCTCCCCAACCATC	0.328													66	177	---	---	---	---					
MIXL1	83881	broad.mit.edu	37	1	226413314	226413314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:226413314delA	ENST00000366810.5	+	2	564	c.500delA	c.(499-501)gafs	p.E167fs	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Frame_Shift_Del_p.E175fs			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CCTGGAACTGAAACGAAATGT	0.552													21	82	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													7	905	---	---	---	---					
OR2L5	81466	broad.mit.edu	37	1	248185308	248185308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248185308delC	ENST00000355281.1	+	1	59	c.59delC	c.(58-60)tafs	p.S20fs	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1			olfactory receptor, family 2, subfamily L, member 5																		TTCCCACCATCAAAAATTGGC	0.408													119	588	---	---	---	---					
WDR35	57539	broad.mit.edu	37	2	20133236	20133237	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:20133236_20133237delCA	ENST00000345530.3	-	23	2731_2732	c.2616_2617delTG	c.(2614-2619)tgaafs	p.CE872fs	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Frame_Shift_Del_p.CE861fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	872										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTGTTCACACATTCCAA	0.356													113	257	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32678942	32678950	+	In_Frame_Del	DEL	AAGTTGAAC	AAGTTGAAC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:32678942_32678950delAAGTTGAAC	ENST00000421745.2	+	23	4819_4827	c.4685_4693delAAGTTGAAC	c.(4684-4695)gct>g	p.EVEP1562del		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1562					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGACTTTTGGAAGTTGAACCTCTGCACTT	0.383													23	303	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				9	498	---	---	---	---					
GMCL1	64395	broad.mit.edu	37	2	70074752	70074753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:70074752_70074753insA	ENST00000282570.3	+	7	1087_1088	c.836_837insA	c.(835-837)caafs	p.Q279fs		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	279					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TACACTGCTCTAAAAAAGGTAC	0.351													7	749	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(958-963)ttggggfs	p.LG320fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	320	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545													10	432	---	---	---	---					
KCMF1	56888	broad.mit.edu	37	2	85280407	85280408	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:85280407_85280408insG	ENST00000409785.3	+	7	1380_1381	c.1021_1022insG	c.(1021-1023)gggfs	p.G341fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	341						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TGAGGATGATCGGGGGGAGATG	0.450													8	199	---	---	---	---					
SLC9A2	6549	broad.mit.edu	37	2	103324745	103324746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:103324745_103324746insC	ENST00000233969.2	+	12	2378_2379	c.2236_2237insC	c.(2236-2238)cccfs	p.P746fs		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATGCCCAGCACCCCCCCAACA	0.530													13	312	---	---	---	---					
ANAPC1	64682	broad.mit.edu	37	2	112582738	112582739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:112582738_112582739insG	ENST00000341068.3	-	23	3482_3483	c.2710_2711insC	c.(2710-2712)gaafs	p.E904fs		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	904					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTGCAACTTCTGGGGGGCTAAA	0.302													8	456	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)ccagccfs	p.A1101fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGAAGGCTTGGGGGGTGTGG	0.505													7	847	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136389448	136389449	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:136389448_136389449insC	ENST00000264160.4	+	9	945_946	c.575_576insC	c.(574-576)tccfs	p.S192fs	R3HDM1_ENST00000329971.3_Frame_Shift_Ins_p.S148fs|R3HDM1_ENST00000410054.1_Frame_Shift_Ins_p.S136fs|R3HDM1_ENST00000409606.1_Frame_Shift_Ins_p.S192fs|R3HDM1_ENST00000409478.1_Frame_Shift_Ins_p.S148fs	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	192	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CGTAAAAAATTCCCCCCAATGA	0.396													9	468	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1300-1305)caaaaafs	p.QK434fs	ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	434	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366													57	314	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													15	326	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													13	268	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179611375	179611375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:179611375delC	ENST00000360870.5	-	46	15974	c.15752delG	c.(15751-15753)gafs	p.G5251fs	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8770	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTACTCTCCCCCTTCTCC	0.408													8	255	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													14	178	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													9	120	---	---	---	---					
CXCR2P1	3580	broad.mit.edu	37	2	218925421	218925421	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:218925421delG	ENST00000439871.1	-	0	959					NR_002712.1																						TGCCCCATATGGGCCTTAAAC	0.552													10	349	---	---	---	---					
VIL1	7429	broad.mit.edu	37	2	219301230	219301231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:219301230_219301231insC	ENST00000248444.5	+	16	1940_1941	c.1852_1853insC	c.(1852-1854)cccfs	p.P618fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCTC	0.500													12	332	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233708910	233708912	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:233708910_233708912delAGC	ENST00000373566.3	+	25	3307_3309	c.3110_3112delAGC	c.(3109-3114)aag>a	p.KQ1037del	GIGYF2_ENST00000409480.1_In_Frame_Del_p.KQ1037del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.KQ1015del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.KQ1015del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.KQ1036del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.KQ1009del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.KA857del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1015					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAAATGCAAAagcagcagcagca	0.483													2	4	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													9	218	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	44	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	572	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													7	221	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													15	353	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:113375177_113375178insG	ENST00000316407.4	-	7	5761_5762	c.5351_5352insC	c.(5350-5352)cccfs	p.P1784fs	KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1784					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426													7	587	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													7	659	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465													8	176	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													11	826	---	---	---	---					
GOLIM4	27333	broad.mit.edu	37	3	167728581	167728581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:167728581delT	ENST00000470487.1	-	15	2580	c.1891delA	c.(1891-1893)ggfs	p.R631fs	GOLIM4_ENST00000309027.4_Frame_Shift_Del_p.R603fs	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	631	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCAGTTCCCTTTTTTTCTCT	0.358													10	564	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													8	531	---	---	---	---					
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3159)gccfs	p.A1053fs	FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.470													7	182	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													7	330	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186370136	186370137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:186370136_186370137insC	ENST00000265029.3	+	7	966_967	c.865_866insC	c.(865-867)cccfs	p.P289fs	FETUB_ENST00000539949.1_Frame_Shift_Ins_p.P141fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.P224fs|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.P289fs|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.P252fs|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGAAAAACACCCCCCCAACA	0.495													22	304	---	---	---	---					
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr3:197427914_197427915insG	ENST00000273582.5	-	7	1195_1196	c.650_651insC	c.(649-651)cgtfs	p.R217fs	KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554													7	214	---	---	---	---					
ARHGAP24	83478	broad.mit.edu	37	4	86852104	86852105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:86852104_86852105insG	ENST00000264343.4	+	1	679_680	c.21_22insG	c.(19-24)tcggggfs	p.SG7fs	ARHGAP24_ENST00000395184.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000503995.1_Intron	NM_031305.2	NP_112595.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	0					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ACCGGAATTCTGGGGGGTGCCC	0.495													8	408	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													9	1129	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													11	1050	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													7	552	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662158	110662159	+	Frame_Shift_Ins	INS	-	-	C	rs7437875	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:110662158_110662159insC	ENST00000394634.2	-	13	1849_1850	c.1642_1643insG	c.(1642-1644)aaafs	p.K548fs	CFI_ENST00000394635.3_Frame_Shift_Ins_p.K556fs|CFI_ENST00000512148.1_Frame_Shift_Ins_p.K541fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACAGTTTTCCCCCCAACTC	0.465													11	568	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(814-819)ccccccfs	p.PP272fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416													8	584	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													11	650	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													10	696	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													8	167	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													7	251	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													7	185	---	---	---	---					
C7	730	broad.mit.edu	37	5	40931243	40931243	+	Splice_Site	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:40931243delT	ENST00000313164.9	+	3	497		c.e3+2			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGACTCAGGTAGGACCATGC	0.408													45	119	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													7	412	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													10	299	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													7	151	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													14	439	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													11	224	---	---	---	---					
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggtcafs	p.S312fs	PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCCCTGACGCCCCCCGTTTC	0.530													7	408	---	---	---	---					
CHD1	1105	broad.mit.edu	37	5	98193965	98193966	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:98193965_98193966insT	ENST00000284049.3	-	34	4854_4855	c.4705_4706insA	c.(4705-4707)tgafs	p.*1569fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1569					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCTGGAATCACTTTTTTTGTAA	0.406													7	752	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													7	439	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	1134	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150922939	150922940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:150922939_150922940insG	ENST00000261800.5	-	9	7760_7761	c.7748_7749insC	c.(7747-7749)ccafs	p.P2583fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2583	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P2583fs*42(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAACTGTGGGGGGTTGTC	0.470													7	439	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													10	261	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													13	518	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													9	225	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													23	2560	---	---	---	---					
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:30610713_30610714insC	ENST00000376483.4	+	10	903_904	c.893_894insC	c.(892-894)tccfs	p.S298fs	ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000468713.1_Intron			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	298							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658													7	244	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													8	323	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.540										Multiple Myeloma(14;0.17)			8	24	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	HCG25_ENST00000450514.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													31	185	---	---	---	---					
PTK7	5754	broad.mit.edu	37	6	43111195	43111196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:43111195_43111196insC	ENST00000230419.4	+	14	2309_2310	c.2088_2089insC	c.(2086-2091)ccccccfs	p.PP696fs	PTK7_ENST00000481273.1_Frame_Shift_Ins_p.PP704fs|PTK7_ENST00000352931.2_Frame_Shift_Ins_p.PP640fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.PP656fs|PTK7_ENST00000349241.2_Frame_Shift_Ins_p.PP566fs	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	696					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGCAGCCCTCCCCCCTACAA	0.604											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	205	---	---	---	---					
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)tacfs	p.Y147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554													9	765	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													10	234	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													8	399	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					21	563	---	---	---	---					
UTRN	7402	broad.mit.edu	37	6	144782471	144782471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:144782471delA	ENST00000367545.3	+	21	2846	c.2846delA	c.(2845-2847)gafs	p.E949fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	949					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCTGCAAGAAAAAAAGGTA	0.348													7	274	---	---	---	---					
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2755-2760)gaaaaafs	p.EK919fs		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	919	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.480													9	242	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													9	352	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													8	999	---	---	---	---					
FGL2	10875	broad.mit.edu	37	7	76828921	76828922	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:76828921_76828922insG	ENST00000248598.5	-	1	221_222	c.189_190insC	c.(187-192)cctgacfs	p.D64fs	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	64					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TGAATAGTCAAGGGGGGCAGGC	0.480													7	394	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													7	337	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92764820	92764820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:92764820delC	ENST00000318238.4	-	5	1681	c.465delG	c.(463-465)aafs	p.K155fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K155fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K155fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	155										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGGTTTTAGCTTACCCTTTT	0.358													413	892	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													12	556	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													8	3156	---	---	---	---					
IMMP2L	83943	broad.mit.edu	37	7	111127376	111127377	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:111127376_111127377insC	ENST00000405709.2	-	3	598_599	c.156_157insG	c.(154-159)gggccafs	p.P53fs	IMMP2L_ENST00000447215.1_Frame_Shift_Ins_p.P53fs|IMMP2L_ENST00000437687.1_Frame_Shift_Ins_p.P53fs|IMMP2L_ENST00000415362.1_Frame_Shift_Ins_p.P53fs|IMMP2L_ENST00000331762.3_Frame_Shift_Ins_p.P53fs|IMMP2L_ENST00000452895.1_Frame_Shift_Ins_p.P53fs	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	53					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GATGACTGGCTCCCCCCAGGAT	0.416													10	336	---	---	---	---					
CNOT4	4850	broad.mit.edu	37	7	135106950	135106951	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:135106950_135106951insT	ENST00000428680.2	-	3	605_606	c.326_327insA	c.(325-327)actfs	p.T109fs	CNOT4_ENST00000361528.4_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000423368.2_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000356162.4_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000541284.1_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000414802.1_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000315544.5_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000451834.1_Frame_Shift_Ins_p.T109fs	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	109	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTAC	0.356													7	408	---	---	---	---					
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:141619203delT	ENST00000548136.1	+	1	587	c.528delT	c.(526-528)aafs	p.N176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383													15	1308	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													12	670	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													21	1088	---	---	---	---					
OR2F2	135948	broad.mit.edu	37	7	143633070	143633070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:143633070delG	ENST00000408955.2	+	1	812	c.745delG	c.(745-747)ccfs	p.A249fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CACGGTGGTTGCCCTGTGCTA	0.502													32	455	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3216722	3216722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:3216722delG	ENST00000602557.1	-	22	3814	c.3259delC	c.(3259-3261)tgfs	p.L1087fs	CSMD1_ENST00000537824.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000520002.1_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.L1087fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1087	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCCACCCAGGCAGGTAAGC	0.552													27	250	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													7	789	---	---	---	---					
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:35584019_35584020insG	ENST00000287272.2	+	9	1466_1467	c.1446_1447insG	c.(1444-1449)ttggggfs	p.LG482fs	UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	551					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411													9	532	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													8	194	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													20	390	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													7	130	---	---	---	---					
LY96	23643	broad.mit.edu	37	8	74903692	74903693	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:74903692_74903693insT	ENST00000284818.2	+	1	106_107	c.15_16insT	c.(13-18)ctttttfs	p.LF5fs	LY96_ENST00000518893.1_Frame_Shift_Ins_p.LF5fs	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	5					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TACCATTTCTGTTTTTTTCCAC	0.366													8	870	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													7	71	---	---	---	---					
SLC26A7	115111	broad.mit.edu	37	8	92261931	92261932	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:92261931_92261932insC	ENST00000276609.3	+	2	291_292	c.52_53insC	c.(52-54)cccfs	p.P18fs	SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.P18fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.P18fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	18						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAGATGCATACCCCCCAGTGT	0.396													9	457	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100779108	100779121	+	Frame_Shift_Del	DEL	TCAATCTCGTGAAT	TCAATCTCGTGAAT	-	rs145846582		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:100779108_100779121delTCAATCTCGTGAAT	ENST00000358544.2	+	40	7343_7356	c.7232_7245delTCAATCTCGTGAAT	c.(7231-7245)afs	p.INLVN2411fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.INLVN2386fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCCGGATATCAATCTCGTGAATGACCAGAAGA	0.374													16	179	---	---	---	---					
FBXO43	286151	broad.mit.edu	37	8	101153252	101153255	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:101153252_101153255delTCTT	ENST00000428847.2	-	2	1543_1546	c.1227_1230delAAGA	c.(1225-1230)aafs	p.KR409fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	409					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGCTGCTGCTCTTTTTTCAGAGT	0.490													7	153	---	---	---	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)tcafs	p.S7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													11	402	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:14823286_14823287insG	ENST00000380881.4	-	14	3026_3027	c.2211_2212insC	c.(2209-2214)cctgcafs	p.A738fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441													7	789	---	---	---	---					
TRPM6	140803	broad.mit.edu	37	9	77377691	77377692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:77377691_77377692insC	ENST00000451710.3	-	26	4132_4133	c.3895_3896insG	c.(3895-3897)actfs	p.T1299fs	TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1299					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGAAGTGCCCCCCTCTGC	0.480													9	460	---	---	---	---					
SECISBP2	79048	broad.mit.edu	37	9	91943617	91943618	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:91943617_91943618insA	ENST00000375807.3	+	5	688_689	c.617_618insA	c.(616-618)gaafs	p.E206fs	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.E138fs|SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.E133fs	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	206					translation	nucleus	mRNA 3'-UTR binding	p.N208fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAATCATTGCAAAAAATGTAT	0.356													7	202	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:94486955delG	ENST00000375708.3	-	9	2019	c.1821delC	c.(1819-1821)tcfs	p.S608fs	ROR2_ENST00000375715.1_Frame_Shift_Del_p.S468fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	608	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607													48	155	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													18	542	---	---	---	---					
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107289148delG	ENST00000277216.3	-	1	342	c.343delC	c.(343-345)ttfs	p.L115fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438													95	757	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													7	860	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													14	697	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137623482	137623482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137623482delG	ENST00000371817.3	+	8	1719	c.1305delG	c.(1303-1305)ccfs	p.P435fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGCCGGCGAACCAGG	0.642													15	101	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.450													10	535	---	---	---	---					
ANKRD26	22852	broad.mit.edu	37	10	27322258	27322259	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:27322258_27322259insT	ENST00000376087.4	-	25	3867_3868	c.3702_3703insA	c.(3700-3705)aaaatcfs	p.I1235fs	ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.I792fs|ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.I1251fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1234						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGGG	0.322													7	749	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)gaafs	p.E349fs	ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401													7	569	---	---	---	---					
FAM21B	55747	broad.mit.edu	37	10	47909192	47909193	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:47909192_47909193insC	ENST00000358474.5	+	10	762_763	c.762_763insC	c.(760-765)acccccfs	p.TP254fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	254					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTTATTCACACCCCCCAAGCT	0.515													18	307	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													17	472	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													12	905	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													11	792	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98188503	98188504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98188503_98188504insC	ENST00000357947.3	-	5	747_748	c.522_523insG	c.(520-525)gggccafs	p.P175fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	175	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCCTCTGGCTCCCTGAAACAA	0.446													19	93	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													7	375	---	---	---	---					
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-171)gggfs	p.G57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401													9	501	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													7	718	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													9	289	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													7	954	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589													8	123	---	---	---	---					
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:14529252_14529254delCAT	ENST00000530457.1	-	9	1138_1140	c.608_610delATG	c.(607-612)gtg>g	p.DV203del	PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000524606.1_5'UTR			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.360													7	518	---	---	---	---					
PLEKHA7	144100	broad.mit.edu	37	11	16822524	16822525	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:16822524_16822525insA	ENST00000355661.3	-	17	2415_2416	c.2405_2406insT	c.(2404-2406)tcafs	p.S802fs	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Frame_Shift_Ins_p.S802fs|PLEKHA7_ENST00000531066.1_Frame_Shift_Ins_p.S802fs			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	802					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGGTCACCTGGAAAAAAAAGGC	0.446													10	461	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													30	1069	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47776187	47776187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:47776187delC	ENST00000263773.5	-	3	355	c.343delG	c.(343-345)acfs	p.D115fs	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	115										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCATCACTGTCAGCATAAGCA	0.383													103	298	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													9	229	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													8	468	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2041-2046)atccccfs	p.IP681fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	681					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554													7	470	---	---	---	---					
RP11-718B12.2	0	broad.mit.edu	37	11	82517533	82517533	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:82517533delG	ENST00000526305.1	+	0	63																											GTCTGATAGAGGGGGAGGCAG	0.473													20	246	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													18	676	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													20	1555	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													8	452	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													36	427	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)gagfs	p.E654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.E163fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525													7	1893	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													9	175	---	---	---	---					
C12orf10	60314	broad.mit.edu	37	12	53693998	53693999	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:53693998_53693999insG	ENST00000267103.5	+	2	333_334	c.281_282insG	c.(280-282)gggfs	p.G94fs	RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000549488.1_5'UTR|C12orf10_ENST00000548632.1_Frame_Shift_Ins_p.G70fs	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	94										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTGGTGGACGTGGGGGGCGAGT	0.559											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	151	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													9	340	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													10	338	---	---	---	---					
LRIG3	121227	broad.mit.edu	37	12	59282620	59282621	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:59282620_59282621insC	ENST00000320743.3	-	6	1069_1070	c.783_784insG	c.(781-786)ggtgagfs	p.E262fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.E202fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	262						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATGTTGCTCAGCCCCCAAAAAG	0.411			T	ROS1	NSCLC								7	370	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								15	520	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													9	316	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			11	339	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													12	407	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104126791	104126792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:104126791_104126792insT	ENST00000388887.2	+	51	5495_5496	c.5291_5292insT	c.(5290-5292)gttfs	p.V1764fs		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1764	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGACTCAGGTTTGCTGAGTG	0.569													154	261	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													9	135	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													7	117	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					8	140	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													17	607	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													2	4	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													7	375	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													10	612	---	---	---	---					
TRAV10	28676	broad.mit.edu	37	14	22293947	22293948	+	RNA	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:22293947_22293948insG	ENST00000390432.2	+	0	88																											CTTTCTGAATAGGGGGGAATGG	0.436													7	169	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.500													8	181	---	---	---	---					
REC8	9985	broad.mit.edu	37	14	24642563	24642564	+	Frame_Shift_Ins	INS	-	-	T	rs148175635	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:24642563_24642564insT	ENST00000311457.3	+	6	1004_1005	c.405_406insT	c.(403-408)ccttttfs	p.PF135fs	REC8_ENST00000559919.1_Frame_Shift_Ins_p.PF135fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	135					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCCAGATCCCTTTTTTGGGAT	0.530													7	265	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													7	469	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													16	458	---	---	---	---					
TSHR	7253	broad.mit.edu	37	14	81610521	81610522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:81610521_81610522insG	ENST00000541158.2	+	11	2441_2442	c.2119_2120insG	c.(2119-2121)gggfs	p.G707fs	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Frame_Shift_Ins_p.G707fs			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	707					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R707W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCAGGCATACCGGGGGCAGAGG	0.490			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						8	615	---	---	---	---					
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:88406276delT	ENST00000261304.2	-	16	1990	c.1884delA	c.(1882-1884)aafs	p.K628fs	GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs|GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	628					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308													9	1003	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													30	754	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28902489	28902490	+	RNA	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:28902489_28902490insT	ENST00000528584.1	+	0	532					NR_036443.1																						CATGGCGCTTCTTGATGAAATA	0.450													56	351	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33357207	33357208	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:33357207_33357208insG	ENST00000334528.9	-	2	1441_1442	c.1442_1443insC	c.(1441-1443)caafs	p.Q481fs	FMN1_ENST00000558197.1_Frame_Shift_Ins_p.Q481fs|FMN1_ENST00000559150.1_5'UTR|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Frame_Shift_Ins_p.Q704fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	704	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTTTTGTCTTTGGGGGTGGCCA	0.495													7	749	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													7	243	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9457-9462)ctccccfs	p.LP3153fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564													9	345	---	---	---	---					
WDR72	256764	broad.mit.edu	37	15	53908070	53908071	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:53908070_53908071insT	ENST00000396328.1	-	15	2571_2572	c.2332_2333insA	c.(2332-2334)gcafs	p.A778fs	WDR72_ENST00000360509.5_Frame_Shift_Ins_p.A778fs|WDR72_ENST00000559418.1_Frame_Shift_Ins_p.A788fs|WDR72_ENST00000557913.1_Frame_Shift_Ins_p.A775fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	778										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTAGGCTGCATTTTTTTGGAG	0.391													9	1142	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													7	92	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.550													9	1149	---	---	---	---					
CCDC33	80125	broad.mit.edu	37	15	74627454	74627454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:74627454delC	ENST00000268082.4	+	9	1065	c.1045delC	c.(1045-1047)ccfs	p.P349fs	CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000558821.1_Frame_Shift_Del_p.P315fs|CCDC33_ENST00000321288.5_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGAGTAGCTCCCAGGGGTTC	0.602													30	154	---	---	---	---					
GPR139	124274	broad.mit.edu	37	16	20043388	20043389	+	Frame_Shift_Ins	INS	-	-	G	rs140063049	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20043388_20043389insG	ENST00000570682.1	-	2	1030_1031	c.730_731insC	c.(730-732)catfs	p.H244fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCAA	0.545													7	194	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													16	374	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													7	349	---	---	---	---					
USP31	57478	broad.mit.edu	37	16	23079851	23079852	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:23079851_23079852insC	ENST00000219689.7	-	16	3573_3574	c.3574_3575insG	c.(3574-3576)cggfs	p.R1192fs	USP31_ENST00000567975.1_Frame_Shift_Ins_p.R485fs	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1192	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGCTTCCCGGCCCCCCTGCCC	0.644													7	151	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24804889	24804890	+	Frame_Shift_Ins	INS	-	-	G	rs139796934		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:24804889_24804890insG	ENST00000395799.3	+	7	3400_3401	c.3271_3272insG	c.(3271-3273)gggfs	p.G1091fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1091fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1091	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGTCCCAGCTGGGGGGAACCC	0.550													8	487	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604													9	385	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													7	401	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58577809	58577810	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:58577809_58577810insG	ENST00000317147.5	-	31	4470		c.e31-2		CNOT1_ENST00000245138.4_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAGGGAATCTGGGGGGTTGGG	0.460													7	158	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cgafs	p.R2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574													7	1672	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72993508	72993509	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:72993508_72993509insC	ENST00000268489.5	-	2	1208_1209	c.536_537insG	c.(535-537)gaafs	p.E179fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	179					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCCCTTGCTTGCCCCCCGCGCC	0.639													8	32	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gatfs	p.D447fs	GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515													9	283	---	---	---	---					
WDR59	79726	broad.mit.edu	37	16	74943495	74943496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:74943495_74943496insG	ENST00000262144.6	-	16	1675_1676	c.1545_1546insC	c.(1543-1548)cctaccfs	p.T516fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	516										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AACGTCGGTAAGGGGGGAGTGA	0.554													9	451	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													9	387	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					7	855	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579470	7579470	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:7579470delC	ENST00000420246.2	-	4	349	c.217delG	c.(217-219)tgfs	p.V73fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGGGCCACGGGGGGAGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			70	289	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:8409750_8409751insG	ENST00000360416.3	-	27	3409_3410	c.3271_3272insC	c.(3271-3273)cgafs	p.R1091fs	MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515													8	225	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													18	453	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													13	172	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562738	29562739	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:29562738_29562739delCT	ENST00000358273.4	+	28	4201_4202	c.3818_3819delCT	c.(3817-3819)afs	p.T1273fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.T1273fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1273	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1275fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCATGCAGACTCTCTTCCGAG	0.416			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	558	---	---	---	---					
CNTNAP1	8506	broad.mit.edu	37	17	40843872	40843873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:40843872_40843873insC	ENST00000264638.4	+	16	2610_2611	c.2393_2394insC	c.(2392-2394)tccfs	p.S798fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	798					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCACTACGCTTCCCCCCAATCC	0.564													10	645	---	---	---	---					
SKAP1	8631	broad.mit.edu	37	17	46262152	46262153	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:46262152_46262153insG	ENST00000336915.6	-	7	568_569	c.499_500insC	c.(499-501)cctfs	p.P167fs	SKAP1_ENST00000584924.1_Frame_Shift_Ins_p.P167fs	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	167	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCTTCGCAGGTGGGGGGCCATC	0.530													7	545	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													12	1076	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													18	1723	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	336	---	---	---	---					
ZNF566	84924	broad.mit.edu	37	19	36940725	36940726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:36940725_36940726insC	ENST00000454319.1	-	5	547_548	c.413_414insG	c.(412-414)gcafs	p.A138fs	ZNF566_ENST00000392170.2_Frame_Shift_Ins_p.A138fs|ZNF566_ENST00000434377.2_Frame_Shift_Ins_p.A137fs|ZNF566_ENST00000493391.1_Frame_Shift_Ins_p.A33fs|ZNF566_ENST00000424129.2_Frame_Shift_Ins_p.A137fs	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GATTGAAATGTCCCCCCTGAGA	0.391													11	476	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													19	669	---	---	---	---					
GIPR	2696	broad.mit.edu	37	19	46180611	46180611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:46180611delT	ENST00000590918.1	+	9	923	c.824delT	c.(823-825)ggfs	p.V275fs	GIPR_ENST00000263281.3_Frame_Shift_Del_p.V275fs|GIPR_ENST00000304207.8_Frame_Shift_Del_p.V239fs	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	275					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATTCCCTGGGTGATCGTCAGG	0.706													2	4	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													9	326	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													12	333	---	---	---	---					
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1606-1611)agccccfs	p.SP536fs	RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	536					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574													7	716	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													14	328	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													33	720	---	---	---	---					
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr20:57478756_57478757insC	ENST00000371100.4	+	5	2823_2824	c.2271_2272insC	c.(2269-2274)gtccccfs	p.VP757fs	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	114					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	201	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs8175341		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416													8	1176	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41414355	41414356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41414355_41414356insG	ENST00000400454.1	-	32	6105_6106	c.5628_5629insC	c.(5626-5631)ccaaccfs	p.T1877fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1877					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTGAGGTTTGGGGGGAGATG	0.569													7	255	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													23	1211	---	---	---	---					
RSPH1	89765	broad.mit.edu	37	21	43913175	43913176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr21:43913175_43913176insC	ENST00000291536.3	-	2	235_236	c.68_69insG	c.(67-69)gcgfs	p.A23fs	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	23					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCTCATTCCGACCCCCCTCATA	0.500													11	594	---	---	---	---					
TPST2	8459	broad.mit.edu	37	22	26932298	26932299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:26932298_26932299insG	ENST00000338754.4	-	4	1266_1267	c.996_997insC	c.(994-999)ccactafs	p.L333fs	TPST2_ENST00000403880.1_Frame_Shift_Ins_p.L333fs|TPST2_ENST00000398110.2_Frame_Shift_Ins_p.L333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	333					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTTG	0.584													8	79	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535													7	280	---	---	---	---					
MTMR3	8897	broad.mit.edu	37	22	30408493	30408494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:30408493_30408494insC	ENST00000333027.3	+	13	1586_1587	c.1258_1259insC	c.(1258-1260)cccfs	p.P420fs	MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.P420fs|MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.P420fs|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.P420fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.P284fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	420	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGGGACCGCACCCCCCAGATT	0.545													13	1525	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													7	120	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													20	409	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													10	822	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													8	423	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs104886321		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:107834821_107834822insC	ENST00000328300.6	+	21	1614_1615	c.1370_1371insC	c.(1369-1371)gccfs	p.A457fs	COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis				7	795	---	---	---	---					
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)ttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488													7	1524	---	---	---	---					
ZCCHC16	340595	broad.mit.edu	37	X	111698756	111698756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:111698756delC	ENST00000340433.2	+	1	1030	c.800delC	c.(799-801)acfs	p.T267fs		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	267							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGCCTCTCACCCCAGCCAAA	0.547													76	177	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135455155	135455156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:135455155_135455156insG	ENST00000394143.1	+	15	7999_8000	c.7708_7709insG	c.(7708-7710)gggfs	p.G2570fs	GPR112_ENST00000394141.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.G2570fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.G2368fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTGCTGCGGGGGGACCAC	0.530													13	1600	---	---	---	---					
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													8	169	---	---	---	---					
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)ttfs	p.F526fs		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													7	689	---	---	---	---					
RAB3GAP2	25782	broad.mit.edu	37	1	220406172	220406172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:220406172delC	ENST00000358951.2	-	2	265	c.149delG	c.(148-150)gafs	p.G50fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	50					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTCCCATGCTCCCCAACCATC	0.328													41	227	---	---	---	---					
MIXL1	83881	broad.mit.edu	37	1	226413314	226413314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:226413314delA	ENST00000366810.5	+	2	564	c.500delA	c.(499-501)gafs	p.E167fs	MIXL1_ENST00000542034.1_Frame_Shift_Del_p.E175fs|MIXL1_ENST00000557734.1_3'UTR			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CCTGGAACTGAAACGAAATGT	0.552													73	161	---	---	---	---					
OR2L5	81466	broad.mit.edu	37	1	248185308	248185308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr1:248185308delC	ENST00000355281.1	+	1	59	c.59delC	c.(58-60)tafs	p.S20fs	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1			olfactory receptor, family 2, subfamily L, member 5																		TTCCCACCATCAAAAATTGGC	0.408													57	259	---	---	---	---					
WDR35	57539	broad.mit.edu	37	2	20133236	20133237	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:20133236_20133237delCA	ENST00000345530.3	-	23	2731_2732	c.2616_2617delTG	c.(2614-2619)tgaafs	p.CE872fs	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Frame_Shift_Del_p.CE861fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	872										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTGTTCACACATTCCAA	0.356													39	134	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32678942	32678950	+	In_Frame_Del	DEL	AAGTTGAAC	AAGTTGAAC	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:32678942_32678950delAAGTTGAAC	ENST00000421745.2	+	23	4819_4827	c.4685_4693delAAGTTGAAC	c.(4684-4695)gct>g	p.EVEP1562del		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1562					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGACTTTTGGAAGTTGAACCTCTGCACTT	0.383													26	299	---	---	---	---					
REG3G	130120	broad.mit.edu	37	2	79254958	79254958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:79254958delG	ENST00000272324.5	+	5	543	c.359delG	c.(358-360)tgfs	p.W120fs	REG3G_ENST00000393897.2_Frame_Shift_Del_p.W120fs|REG3G_ENST00000409471.1_Frame_Shift_Del_p.W74fs	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	120	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGATGGATGGGAGTGGAGT	0.512													9	365	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1300-1305)caaaaafs	p.QK434fs	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	434	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366													54	161	---	---	---	---					
C7	730	broad.mit.edu	37	5	40931243	40931243	+	Splice_Site	DEL	T	T	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr5:40931243delT	ENST00000313164.9	+	3	497		c.e3+2			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGACTCAGGTAGGACCATGC	0.408													18	72	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92764820	92764820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:92764820delC	ENST00000318238.4	-	5	1681	c.465delG	c.(463-465)aafs	p.K155fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K155fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K155fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	155										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGGTTTTAGCTTACCCTTTT	0.358													68	207	---	---	---	---					
OR2F2	135948	broad.mit.edu	37	7	143633070	143633070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr7:143633070delG	ENST00000408955.2	+	1	812	c.745delG	c.(745-747)ccfs	p.A249fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CACGGTGGTTGCCCTGTGCTA	0.502													24	189	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3216722	3216722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:3216722delG	ENST00000602557.1	-	22	3814	c.3259delC	c.(3259-3261)tgfs	p.L1087fs	CSMD1_ENST00000602723.1_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000520002.1_Frame_Shift_Del_p.L1087fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1087	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCCACCCAGGCAGGTAAGC	0.552													18	127	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100779108	100779121	+	Frame_Shift_Del	DEL	TCAATCTCGTGAAT	TCAATCTCGTGAAT	-	rs145846582		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:100779108_100779121delTCAATCTCGTGAAT	ENST00000358544.2	+	40	7343_7356	c.7232_7245delTCAATCTCGTGAAT	c.(7231-7245)afs	p.INLVN2411fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.INLVN2386fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCCGGATATCAATCTCGTGAATGACCAGAAGA	0.374													18	134	---	---	---	---					
FBXO43	286151	broad.mit.edu	37	8	101153252	101153255	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr8:101153252_101153255delTCTT	ENST00000428847.2	-	2	1543_1546	c.1227_1230delAAGA	c.(1225-1230)aafs	p.KR409fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	409					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGCTGCTGCTCTTTTTTCAGAGT	0.490													33	492	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:94486955delG	ENST00000375708.3	-	9	2019	c.1821delC	c.(1819-1821)tcfs	p.S608fs	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Frame_Shift_Del_p.S468fs	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	608	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607													45	102	---	---	---	---					
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:107289148delG	ENST00000277216.3	-	1	342	c.343delC	c.(343-345)ttfs	p.L115fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438													26	239	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137623482	137623482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr9:137623482delG	ENST00000371817.3	+	8	1719	c.1305delG	c.(1303-1305)ccfs	p.P435fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGCCGGCGAACCAGG	0.642													11	157	---	---	---	---					
CYP26A1	1592	broad.mit.edu	37	10	94834760	94834761	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:94834760_94834761insT	ENST00000371531.1	+	3	810_811	c.432_433insT	c.(430-435)gctcgafs	p.R145fs	CYP26A1_ENST00000224356.4_Frame_Shift_Ins_p.R214fs|CYP26A1_ENST00000394139.1_Frame_Shift_Ins_p.R145fs	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	214					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				TTGTGGAGGCCTTCGAGGAAAT	0.649													39	74	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98188503	98188504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr10:98188503_98188504insC	ENST00000357947.3	-	5	747_748	c.522_523insG	c.(520-525)gggccafs	p.P175fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	175	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCCTCTGGCTCCCTGAAACAA	0.446													17	81	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47776187	47776187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:47776187delC	ENST00000263773.5	-	3	355	c.343delG	c.(343-345)acfs	p.D115fs	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	115										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCATCACTGTCAGCATAAGCA	0.383													48	151	---	---	---	---					
RP11-718B12.2	0	broad.mit.edu	37	11	82517533	82517533	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr11:82517533delG	ENST00000526305.1	+	0	63																											GTCTGATAGAGGGGGAGGCAG	0.473													13	127	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104126791	104126792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr12:104126791_104126792insT	ENST00000388887.2	+	51	5495_5496	c.5291_5292insT	c.(5290-5292)gttfs	p.V1764fs		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1764	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGACTCAGGTTTGCTGAGTG	0.569													95	124	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146237	20146237	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:20146237delG	ENST00000555580.1	-	0	225																											AGTATTTCAAGCACACTGAAC	0.468													16	74	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105405564	105405564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105405564delG	ENST00000333244.5	-	7	16343	c.16224delC	c.(16222-16224)ccfs	p.P5408fs	AHNAK2_ENST00000557457.1_Frame_Shift_Del_p.P406fs	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5408						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCACAGTGGGGATGAACA	0.522													31	68	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105416636	105416636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr14:105416636delG	ENST00000333244.5	-	7	5271	c.5152delC	c.(5152-5154)agfs	p.Q1718fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1718						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCCAGCCTGGACCTCCAGG	0.622													45	396	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28902489	28902490	+	RNA	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:28902489_28902490insT	ENST00000528584.1	+	0	532					NR_036443.1																						CATGGCGCTTCTTGATGAAATA	0.450													64	130	---	---	---	---					
CCDC33	80125	broad.mit.edu	37	15	74627454	74627454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr15:74627454delC	ENST00000268082.4	+	9	1065	c.1045delC	c.(1045-1047)ccfs	p.P349fs	CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000558821.1_Frame_Shift_Del_p.P315fs			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGAGTAGCTCCCAGGGGTTC	0.602													93	222	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72993508	72993509	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr16:72993508_72993509insC	ENST00000268489.5	-	2	1208_1209	c.536_537insG	c.(535-537)gaafs	p.E179fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	179					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCCCTTGCTTGCCCCCCGCGCC	0.639													12	84	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579470	7579470	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:7579470delC	ENST00000420246.2	-	4	349	c.217delG	c.(217-219)tgfs	p.V73fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGGGCCACGGGGGGAGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	142	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12656396	12656396	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:12656396delC	ENST00000425538.1	+	10	1991	c.1791delC	c.(1789-1791)cafs	p.H597fs	MYOCD_ENST00000343344.4_Frame_Shift_Del_p.H597fs|MYOCD_ENST00000395988.1_Frame_Shift_Del_p.H501fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	597					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGAGTGTCACCCACCGGCTT	0.507													11	241	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562738	29562739	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr17:29562738_29562739delCT	ENST00000358273.4	+	28	4201_4202	c.3818_3819delCT	c.(3817-3819)afs	p.T1273fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.T1273fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1273	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1275fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCATGCAGACTCTCTTCCGAG	0.416			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	317	---	---	---	---					
LZTR1	8216	broad.mit.edu	37	22	21348256	21348256	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chr22:21348256delG	ENST00000215739.8	+	13	1756	c.1397delG	c.(1396-1398)cgfs	p.R466fs	LZTR1_ENST00000389355.3_Frame_Shift_Del_p.R447fs|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	466	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACAGCGCGGAGCCGCTGG	0.647													11	21	---	---	---	---					
ZCCHC16	340595	broad.mit.edu	37	X	111698756	111698756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	03b8420d-480f-48e1-88a7-8ee9917049a6	g.chrX:111698756delC	ENST00000340433.2	+	1	1030	c.800delC	c.(799-801)acfs	p.T267fs		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	267							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGCCTCTCACCCCAGCCAAA	0.547													53	132	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													13	852	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	338	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													8	284	---	---	---	---					
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)del	p.E433del	ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414													7	333	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													10	180	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													13	527	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609													7	378	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													7	649	---	---	---	---					
SLC6A9	6536	broad.mit.edu	37	1	44489925	44489926	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:44489925_44489926insC	ENST00000372310.3	-	2	189_190	c.24_25insG	c.(22-27)ggtgctfs	p.A9fs	SLC6A9_ENST00000372306.3_Frame_Shift_Ins_p.A9fs|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	340						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTCACCAGCATCCCTTTGGCAC	0.634													15	153	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													10	1159	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													18	261	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													14	344	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													37	651	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													8	202	---	---	---	---					
SPAG17	200162	broad.mit.edu	37	1	118583386	118583387	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:118583386_118583387insC	ENST00000336338.5	-	22	3197_3198	c.3132_3133insG	c.(3130-3135)ggagatfs	p.D1045fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1045						cilium|flagellar axoneme|microtubule		p.Q1045K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTCAATCTGCCCCCCATCAG	0.371													7	371	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													13	444	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													7	555	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													10	303	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				7	243	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:156708444_156708445insG	ENST00000368211.4	-	2	190_191	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													9	81	---	---	---	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1131)gccfs	p.A377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal								40	231	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													37	1371	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													7	2025	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160593935	160593936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:160593935_160593936insC	ENST00000302035.6	-	4	1089_1090	c.740_741insG	c.(739-741)ggtfs	p.G247fs	SLAMF1_ENST00000538290.1_Frame_Shift_Ins_p.G247fs|SLAMF1_ENST00000235739.5_Intron|SLAMF1_ENST00000355199.3_Frame_Shift_Ins_p.G247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	247					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCATGATGACACCCCCTAACAG	0.391													8	2329	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													11	604	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													30	754	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201035446	201035447	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:201035446_201035447insG	ENST00000362061.3	-	21	2884		c.e21-2		CACNA1S_ENST00000367338.3_Splice_Site	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCACTGGACCTGGGGGGCGGCA	0.644													9	215	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													11	356	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													7	451	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													7	275	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													18	264	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													13	541	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			8	692	---	---	---	---					
RAB3GAP2	25782	broad.mit.edu	37	1	220406172	220406172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:220406172delC	ENST00000358951.2	-	2	265	c.149delG	c.(148-150)gafs	p.G50fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	50					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTCCCATGCTCCCCAACCATC	0.328													66	177	---	---	---	---					
MIXL1	83881	broad.mit.edu	37	1	226413314	226413314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:226413314delA	ENST00000366810.5	+	2	564	c.500delA	c.(499-501)gafs	p.E167fs	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Frame_Shift_Del_p.E175fs			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CCTGGAACTGAAACGAAATGT	0.552													21	82	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													7	905	---	---	---	---					
WDR35	57539	broad.mit.edu	37	2	20133236	20133237	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:20133236_20133237delCA	ENST00000345530.3	-	23	2731_2732	c.2616_2617delTG	c.(2614-2619)tgaafs	p.CE872fs	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Frame_Shift_Del_p.CE861fs	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	872										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTGTTCACACATTCCAA	0.356													113	257	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32678942	32678950	+	In_Frame_Del	DEL	AAGTTGAAC	AAGTTGAAC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:32678942_32678950delAAGTTGAAC	ENST00000421745.2	+	23	4819_4827	c.4685_4693delAAGTTGAAC	c.(4684-4695)gct>g	p.EVEP1562del		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1562					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGACTTTTGGAAGTTGAACCTCTGCACTT	0.383													23	303	---	---	---	---					
DHX57	90957	broad.mit.edu	37	2	39074184	39074185	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:39074184_39074185insA	ENST00000295373.6	-	11	2321_2322	c.2195_2196insT	c.(2194-2196)tgafs	p.*732fs		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	732							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTGCATCTTCCAAAAAAAATTG	0.361													7	206	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				9	498	---	---	---	---					
GMCL1	64395	broad.mit.edu	37	2	70074752	70074753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:70074752_70074753insA	ENST00000282570.3	+	7	1087_1088	c.836_837insA	c.(835-837)caafs	p.Q279fs		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	279					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TACACTGCTCTAAAAAAGGTAC	0.351													7	749	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73302654	73302655	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:73302654_73302655insG	ENST00000258098.6	-	5	2196_2197	c.1956_1957insC	c.(1954-1959)ccaatafs	p.I653fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	653					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAAGGCTATTTGGGGGGGCCCG	0.629													9	76	---	---	---	---					
KCMF1	56888	broad.mit.edu	37	2	85280407	85280408	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:85280407_85280408insG	ENST00000409785.3	+	7	1380_1381	c.1021_1022insG	c.(1021-1023)gggfs	p.G341fs		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	341						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TGAGGATGATCGGGGGGAGATG	0.450													8	199	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													13	500	---	---	---	---					
SLC9A2	6549	broad.mit.edu	37	2	103324745	103324746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:103324745_103324746insC	ENST00000233969.2	+	12	2378_2379	c.2236_2237insC	c.(2236-2238)cccfs	p.P746fs		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATGCCCAGCACCCCCCCAACA	0.530													13	312	---	---	---	---					
ANAPC1	64682	broad.mit.edu	37	2	112582738	112582739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:112582738_112582739insG	ENST00000341068.3	-	23	3482_3483	c.2710_2711insC	c.(2710-2712)gaafs	p.E904fs		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	904					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTGCAACTTCTGGGGGGCTAAA	0.302													8	456	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)ccagccfs	p.A1101fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGAAGGCTTGGGGGGTGTGG	0.505													7	847	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136389448	136389449	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:136389448_136389449insC	ENST00000264160.4	+	9	945_946	c.575_576insC	c.(574-576)tccfs	p.S192fs	R3HDM1_ENST00000410054.1_Frame_Shift_Ins_p.S136fs|R3HDM1_ENST00000409478.1_Frame_Shift_Ins_p.S148fs|R3HDM1_ENST00000409606.1_Frame_Shift_Ins_p.S192fs|R3HDM1_ENST00000329971.3_Frame_Shift_Ins_p.S148fs	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	192	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CGTAAAAAATTCCCCCCAATGA	0.396													9	468	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1300-1305)caaaaafs	p.QK434fs	ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	434	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366													57	314	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													15	326	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													13	268	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179611375	179611375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:179611375delC	ENST00000360870.5	-	46	15974	c.15752delG	c.(15751-15753)gafs	p.G5251fs	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8770	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTACTCTCCCCCTTCTCC	0.408													8	255	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													19	706	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													9	120	---	---	---	---					
CXCR2P1	3580	broad.mit.edu	37	2	218925421	218925421	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:218925421delG	ENST00000439871.1	-	0	959					NR_002712.1																						TGCCCCATATGGGCCTTAAAC	0.552													10	349	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233708910	233708912	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:233708910_233708912delAGC	ENST00000373566.3	+	25	3307_3309	c.3110_3112delAGC	c.(3109-3114)aag>a	p.KQ1037del	GIGYF2_ENST00000373563.4_In_Frame_Del_p.KQ1015del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.KQ1037del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.KA857del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.KQ1036del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.KQ1015del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.KQ1009del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1015					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAAATGCAAAagcagcagcagca	0.483													2	4	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													9	368	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													9	218	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								11	171	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	44	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	572	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:113375177_113375178insG	ENST00000316407.4	-	7	5761_5762	c.5351_5352insC	c.(5350-5352)cccfs	p.P1784fs	KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1784					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426													7	587	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													7	659	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs|PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465													8	176	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													8	531	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													7	330	---	---	---	---					
HNRNPD	3184	broad.mit.edu	37	4	83278025	83278025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:83278025delC	ENST00000313899.7	-	6	1054	c.777delG	c.(775-777)tcfs	p.S259fs	HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.S207fs|HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.S105fs|HNRNPD_ENST00000508119.1_5'UTR|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.S240fs|HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.S259fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	259	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						ATTGTTCCTTCGACATGGCTA	0.368													125	570	---	---	---	---					
ARHGAP24	83478	broad.mit.edu	37	4	86852104	86852105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:86852104_86852105insG	ENST00000264343.4	+	1	679_680	c.21_22insG	c.(19-24)tcggggfs	p.SG7fs	ARHGAP24_ENST00000395184.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000503995.1_Intron	NM_031305.2	NP_112595.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	0					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ACCGGAATTCTGGGGGGTGCCC	0.495													8	408	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													9	1129	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													11	1050	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599													8	620	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													7	552	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662158	110662159	+	Frame_Shift_Ins	INS	-	-	C	rs7437875	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:110662158_110662159insC	ENST00000394634.2	-	13	1849_1850	c.1642_1643insG	c.(1642-1644)aaafs	p.K548fs	CFI_ENST00000394635.3_Frame_Shift_Ins_p.K556fs|CFI_ENST00000512148.1_Frame_Shift_Ins_p.K541fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACAGTTTTCCCCCCAACTC	0.465													11	568	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(814-819)ccccccfs	p.PP272fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416													8	584	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													11	650	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													10	696	---	---	---	---					
GPM6A	2823	broad.mit.edu	37	4	176622884	176622885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:176622884_176622885insC	ENST00000280187.7	-	3	116_117	c.71_72insG	c.(70-72)gatfs	p.D24fs	GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.D17fs|GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.D13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.D24fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	24						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATAGGGAATGCCCCCCAGGCA	0.431													7	455	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													8	167	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													7	251	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													7	185	---	---	---	---					
C7	730	broad.mit.edu	37	5	40931243	40931243	+	Splice_Site	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:40931243delT	ENST00000313164.9	+	3	497		c.e3+2			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGACTCAGGTAGGACCATGC	0.408													45	119	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													7	412	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													7	151	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													11	224	---	---	---	---					
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggtcafs	p.S312fs	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCCCTGACGCCCCCCGTTTC	0.530													7	408	---	---	---	---					
CHD1	1105	broad.mit.edu	37	5	98193965	98193966	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:98193965_98193966insT	ENST00000284049.3	-	34	4854_4855	c.4705_4706insA	c.(4705-4707)tgafs	p.*1569fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1569					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCTGGAATCACTTTTTTTGTAA	0.406													7	752	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	1134	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150922939	150922940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:150922939_150922940insG	ENST00000261800.5	-	9	7760_7761	c.7748_7749insC	c.(7747-7749)ccafs	p.P2583fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2583	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P2583fs*42(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAACTGTGGGGGGTTGTC	0.470													7	439	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													11	889	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													10	261	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													16	327	---	---	---	---					
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:30610713_30610714insC	ENST00000376483.4	+	10	903_904	c.893_894insC	c.(892-894)tccfs	p.S298fs	ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000468713.1_Intron			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	298							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658													7	244	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													8	323	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000450514.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													31	185	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													14	1264	---	---	---	---					
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)tacfs	p.Y147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554													9	765	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													10	234	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					21	563	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													26	541	---	---	---	---					
AHI1	54806	broad.mit.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)aaafs	p.K304fs	AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307													9	258	---	---	---	---					
UTRN	7402	broad.mit.edu	37	6	144782471	144782471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr6:144782471delA	ENST00000367545.3	+	21	2846	c.2846delA	c.(2845-2847)gafs	p.E949fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	949					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCTGCAAGAAAAAAAGGTA	0.348													7	274	---	---	---	---					
RSPH10B	222967	broad.mit.edu	37	7	6006564	6006564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:6006564delG	ENST00000405415.1	-	2	570	c.184delC	c.(184-186)aafs	p.Q62fs	RSPH10B_ENST00000404406.1_Frame_Shift_Del_p.Q62fs|RSPH10B_ENST00000337579.3_Frame_Shift_Del_p.Q62fs|RSPH10B_ENST00000441023.2_Frame_Shift_Del_p.Q62fs			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	62										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGAACGTTTTGGCGGTCTTTT	0.483													28	102	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													9	352	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000464028.1_3'UTR	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													8	999	---	---	---	---					
FGL2	10875	broad.mit.edu	37	7	76828921	76828922	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:76828921_76828922insG	ENST00000248598.5	-	1	221_222	c.189_190insC	c.(187-192)cctgacfs	p.D64fs	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	64					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TGAATAGTCAAGGGGGGCAGGC	0.480													7	394	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													7	337	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92764820	92764820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:92764820delC	ENST00000318238.4	-	5	1681	c.465delG	c.(463-465)aafs	p.K155fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K155fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K155fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	155										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGGTTTTAGCTTACCCTTTT	0.358													413	892	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													12	556	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													8	3156	---	---	---	---					
IMMP2L	83943	broad.mit.edu	37	7	111127376	111127377	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:111127376_111127377insC	ENST00000405709.2	-	3	598_599	c.156_157insG	c.(154-159)gggccafs	p.P53fs	IMMP2L_ENST00000447215.1_Frame_Shift_Ins_p.P53fs|IMMP2L_ENST00000437687.1_Frame_Shift_Ins_p.P53fs|IMMP2L_ENST00000452895.1_Frame_Shift_Ins_p.P53fs|IMMP2L_ENST00000415362.1_Frame_Shift_Ins_p.P53fs|IMMP2L_ENST00000331762.3_Frame_Shift_Ins_p.P53fs	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	53					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GATGACTGGCTCCCCCCAGGAT	0.416													10	336	---	---	---	---					
CNOT4	4850	broad.mit.edu	37	7	135106950	135106951	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:135106950_135106951insT	ENST00000428680.2	-	3	605_606	c.326_327insA	c.(325-327)actfs	p.T109fs	CNOT4_ENST00000356162.4_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000315544.5_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000414802.1_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000541284.1_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000451834.1_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000361528.4_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000423368.2_Frame_Shift_Ins_p.T109fs	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	109	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTAC	0.356													7	408	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													12	670	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													21	1088	---	---	---	---					
OR2F2	135948	broad.mit.edu	37	7	143633070	143633070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:143633070delG	ENST00000408955.2	+	1	812	c.745delG	c.(745-747)ccfs	p.A249fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CACGGTGGTTGCCCTGTGCTA	0.502													32	455	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3216722	3216722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:3216722delG	ENST00000520002.1	-	22	3814	c.3259delC	c.(3259-3261)tgfs	p.L1087fs	CSMD1_ENST00000602723.1_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.L1086fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1087	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCCACCCAGGCAGGTAAGC	0.552													27	250	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													7	789	---	---	---	---					
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:35584019_35584020insG	ENST00000287272.2	+	9	1466_1467	c.1446_1447insG	c.(1444-1449)ttggggfs	p.LG482fs	UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	551					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411													9	532	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													8	194	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													7	130	---	---	---	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:74507471delT	ENST00000355780.5	-	10	1213	c.995delA	c.(994-996)atfs	p.N332fs	STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													7	395	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													7	71	---	---	---	---					
SLC26A7	115111	broad.mit.edu	37	8	92261931	92261932	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:92261931_92261932insC	ENST00000276609.3	+	2	291_292	c.52_53insC	c.(52-54)cccfs	p.P18fs	SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.P18fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.P18fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	18						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAGATGCATACCCCCCAGTGT	0.396													9	457	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100779108	100779121	+	Frame_Shift_Del	DEL	TCAATCTCGTGAAT	TCAATCTCGTGAAT	-	rs145846582		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:100779108_100779121delTCAATCTCGTGAAT	ENST00000358544.2	+	40	7343_7356	c.7232_7245delTCAATCTCGTGAAT	c.(7231-7245)afs	p.INLVN2411fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.INLVN2386fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCCGGATATCAATCTCGTGAATGACCAGAAGA	0.374													16	179	---	---	---	---					
LRP12	29967	broad.mit.edu	37	8	105509429	105509429	+	Frame_Shift_Del	DEL	A	A	-	rs35928649		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:105509429delA	ENST00000276654.5	-	5	1459	c.1351delT	c.(1351-1353)gcfs	p.C451fs	LRP12_ENST00000424843.2_Frame_Shift_Del_p.C432fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	451	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGTTGGCAAAAAAAGCAG	0.408													8	301	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)gatfs	p.D339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589													8	531	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:14823286_14823287insG	ENST00000380881.4	-	14	3026_3027	c.2211_2212insC	c.(2209-2214)cctgcafs	p.A738fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441													7	789	---	---	---	---					
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594													10	342	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2500-2505)taccccfs	p.YP834fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	834										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.540													8	1371	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													9	158	---	---	---	---					
TRPM6	140803	broad.mit.edu	37	9	77377691	77377692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:77377691_77377692insC	ENST00000451710.3	-	26	4132_4133	c.3895_3896insG	c.(3895-3897)actfs	p.T1299fs	TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1299					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGAAGTGCCCCCCTCTGC	0.480													9	460	---	---	---	---					
SECISBP2	79048	broad.mit.edu	37	9	91943617	91943618	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:91943617_91943618insA	ENST00000375807.3	+	5	688_689	c.617_618insA	c.(616-618)gaafs	p.E206fs	SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.E138fs|SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.E133fs|SECISBP2_ENST00000470305.1_3'UTR	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	206					translation	nucleus	mRNA 3'-UTR binding	p.N208fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAATCATTGCAAAAAATGTAT	0.356													7	202	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:94486955delG	ENST00000375708.3	-	9	2019	c.1821delC	c.(1819-1821)tcfs	p.S608fs	ROR2_ENST00000375715.1_Frame_Shift_Del_p.S468fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	608	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607													48	155	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													10	356	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													18	542	---	---	---	---					
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:107289148delG	ENST00000277216.3	-	1	342	c.343delC	c.(343-345)ttfs	p.L115fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438													95	757	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													7	860	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													14	697	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													18	569	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137623482	137623482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:137623482delG	ENST00000371817.3	+	8	1719	c.1305delG	c.(1303-1305)ccfs	p.P435fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGCCGGCGAACCAGG	0.642													15	101	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.450													10	535	---	---	---	---					
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)cgafs	p.R314fs	PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584													7	133	---	---	---	---					
ANKRD26	22852	broad.mit.edu	37	10	27322258	27322259	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:27322258_27322259insT	ENST00000376087.4	-	25	3867_3868	c.3702_3703insA	c.(3700-3705)aaaatcfs	p.I1235fs	ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.I792fs|ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.I1251fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1234						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGGG	0.322													7	749	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)gaafs	p.E349fs	ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401													7	569	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													17	472	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													12	905	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)tttfs	p.F421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.480													11	792	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98188503	98188504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:98188503_98188504insC	ENST00000357947.3	-	5	747_748	c.522_523insG	c.(520-525)gggccafs	p.P175fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	175	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCCTCTGGCTCCCTGAAACAA	0.446													19	93	---	---	---	---					
CUTC	51076	broad.mit.edu	37	10	101499503	101499504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:101499503_101499504insG	ENST00000370476.5	+	3	299_300	c.170_171insG	c.(169-171)gggfs	p.G57fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	57					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGTTTATCAGAGGGGGGAACTA	0.401													9	501	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													7	718	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													9	289	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													7	954	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													8	620	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47776187	47776187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:47776187delC	ENST00000263773.5	-	3	355	c.343delG	c.(343-345)acfs	p.D115fs	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	115										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCATCACTGTCAGCATAAGCA	0.383													103	298	---	---	---	---					
OR5AR1	219493	broad.mit.edu	37	11	56431466	56431467	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:56431466_56431467insT	ENST00000302969.2	+	1	329_330	c.305_306insT	c.(304-306)gttfs	p.V102fs		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ACCCAGTTTGCTTTTTTTGTAG	0.510													7	753	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													9	229	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													8	468	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2041-2046)atccccfs	p.IP681fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	681					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554													7	470	---	---	---	---					
RP11-718B12.2	0	broad.mit.edu	37	11	82517533	82517533	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:82517533delG	ENST00000526305.1	+	0	63																											GTCTGATAGAGGGGGAGGCAG	0.473													20	246	---	---	---	---					
MMP20	9313	broad.mit.edu	37	11	102487558	102487558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:102487558delT	ENST00000260228.2	-	2	371	c.359delA	c.(358-360)atfs	p.N120fs	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	120					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TGTCAAAGTATTTTTTTTCCA	0.398													7	189	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													18	676	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													8	452	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													16	1282	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													36	427	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)gagfs	p.E654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.E163fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525													7	1893	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													9	175	---	---	---	---					
C12orf10	60314	broad.mit.edu	37	12	53693998	53693999	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:53693998_53693999insG	ENST00000267103.5	+	2	333_334	c.281_282insG	c.(280-282)gggfs	p.G94fs	C12orf10_ENST00000548632.1_Frame_Shift_Ins_p.G70fs|C12orf10_ENST00000549488.1_5'UTR|RP11-680A11.5_ENST00000550263.1_RNA	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	94										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTGGTGGACGTGGGGGGCGAGT	0.559											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	151	---	---	---	---					
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)ccacttfs	p.L37fs	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653													8	76	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													9	340	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													16	648	---	---	---	---					
LRIG3	121227	broad.mit.edu	37	12	59282620	59282621	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:59282620_59282621insC	ENST00000320743.3	-	6	1069_1070	c.783_784insG	c.(781-786)ggtgagfs	p.E262fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.E202fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	262						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATGTTGCTCAGCCCCCAAAAAG	0.411			T	ROS1	NSCLC								7	370	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								15	520	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													9	316	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			11	339	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													12	407	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104126791	104126792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:104126791_104126792insT	ENST00000388887.2	+	51	5495_5496	c.5291_5292insT	c.(5290-5292)gttfs	p.V1764fs		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1764	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGACTCAGGTTTGCTGAGTG	0.569													154	261	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													9	135	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													7	117	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													7	375	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													11	274	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													10	612	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													11	196	---	---	---	---					
TRAV10	28676	broad.mit.edu	37	14	22293947	22293948	+	RNA	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:22293947_22293948insG	ENST00000390432.2	+	0	88																											CTTTCTGAATAGGGGGGAATGG	0.436													7	169	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.500													8	181	---	---	---	---					
REC8	9985	broad.mit.edu	37	14	24642563	24642564	+	Frame_Shift_Ins	INS	-	-	T	rs148175635	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:24642563_24642564insT	ENST00000311457.3	+	6	1004_1005	c.405_406insT	c.(403-408)ccttttfs	p.PF135fs	REC8_ENST00000559919.1_Frame_Shift_Ins_p.PF135fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	135					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCCAGATCCCTTTTTTGGGAT	0.530													7	265	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													7	469	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													16	458	---	---	---	---					
TSHR	7253	broad.mit.edu	37	14	81610521	81610522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:81610521_81610522insG	ENST00000541158.2	+	11	2441_2442	c.2119_2120insG	c.(2119-2121)gggfs	p.G707fs	TSHR_ENST00000298171.2_Frame_Shift_Ins_p.G707fs|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	707					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R707W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCAGGCATACCGGGGGCAGAGG	0.490			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						8	615	---	---	---	---					
UNC79	57578	broad.mit.edu	37	14	94046588	94046589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:94046588_94046589insG	ENST00000553484.1	+	19	2681_2682	c.2527_2528insG	c.(2527-2529)gggfs	p.G843fs	UNC79_ENST00000393151.2_Frame_Shift_Ins_p.G843fs|UNC79_ENST00000256339.4_Frame_Shift_Ins_p.G666fs|UNC79_ENST00000555664.1_Frame_Shift_Ins_p.G843fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	843						integral to membrane		p.I654_H670del(1)|p.G668fs*34(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCAAGCCCCCTGGGGGGGATCC	0.450													9	175	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													30	754	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28902489	28902490	+	RNA	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:28902489_28902490insT	ENST00000528584.1	+	0	532					NR_036443.1																						CATGGCGCTTCTTGATGAAATA	0.450													56	351	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33357207	33357208	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:33357207_33357208insG	ENST00000334528.9	-	2	1441_1442	c.1442_1443insC	c.(1441-1443)caafs	p.Q481fs	FMN1_ENST00000558197.1_Frame_Shift_Ins_p.Q481fs|FMN1_ENST00000559047.1_Frame_Shift_Ins_p.Q704fs|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_5'UTR	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	704	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTTTTGTCTTTGGGGGTGGCCA	0.495													7	749	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													7	243	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9457-9462)ctccccfs	p.LP3153fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564													9	345	---	---	---	---					
BUB1B	701	broad.mit.edu	37	15	40477505	40477506	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:40477505_40477506insC	ENST00000287598.6	+	7	1086_1087	c.891_892insC	c.(889-894)gcccccfs	p.AP297fs	BUB1B_ENST00000412359.3_Frame_Shift_Ins_p.AP311fs	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CATGGATAGCACCCCCCATGCC	0.475			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				8	566	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	89	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.550													9	1149	---	---	---	---					
CCDC33	80125	broad.mit.edu	37	15	74627454	74627454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:74627454delC	ENST00000268082.4	+	9	1065	c.1045delC	c.(1045-1047)ccfs	p.P349fs	CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000558821.1_Frame_Shift_Del_p.P315fs			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGAGTAGCTCCCAGGGGTTC	0.602													30	154	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													10	275	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													16	374	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													7	349	---	---	---	---					
USP31	57478	broad.mit.edu	37	16	23079851	23079852	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:23079851_23079852insC	ENST00000219689.7	-	16	3573_3574	c.3574_3575insG	c.(3574-3576)cggfs	p.R1192fs	USP31_ENST00000567975.1_Frame_Shift_Ins_p.R485fs	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1192	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGCTTCCCGGCCCCCCTGCCC	0.644													7	151	---	---	---	---					
RP11-19N8.4	0	broad.mit.edu	37	16	33070154	33070154	+	RNA	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:33070154delC	ENST00000561541.1	-	0	291																											CCTATCACATCCCATTCCAGC	0.488													2	4	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													7	401	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58577809	58577810	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:58577809_58577810insG	ENST00000317147.5	-	31	4470		c.e31-2		CNOT1_ENST00000245138.4_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAGGGAATCTGGGGGGTTGGG	0.460													7	158	---	---	---	---					
NAE1	8883	broad.mit.edu	37	16	66839678	66839679	+	Splice_Site	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:66839678_66839679insC	ENST00000379463.2	-	20	1670		c.e20+1		NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site|NAE1_ENST00000359087.4_Splice_Site	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATGGAACTCACCCCCCAAGAA	0.406													7	212	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cgafs	p.R2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574													7	1672	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72993508	72993509	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:72993508_72993509insC	ENST00000268489.5	-	2	1208_1209	c.536_537insG	c.(535-537)gaafs	p.E179fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	179					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCCCTTGCTTGCCCCCCGCGCC	0.639													8	32	---	---	---	---					
WDR59	79726	broad.mit.edu	37	16	74943495	74943496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:74943495_74943496insG	ENST00000262144.6	-	16	1675_1676	c.1545_1546insC	c.(1543-1548)cctaccfs	p.T516fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	516										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AACGTCGGTAAGGGGGGAGTGA	0.554													9	451	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													9	387	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579470	7579470	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:7579470delC	ENST00000420246.2	-	4	349	c.217delG	c.(217-219)tgfs	p.V73fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGGGCCACGGGGGGAGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			70	289	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:8409750_8409751insG	ENST00000360416.3	-	27	3409_3410	c.3271_3272insC	c.(3271-3273)cgafs	p.R1091fs	MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515													8	225	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													18	453	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													13	172	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562738	29562739	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:29562738_29562739delCT	ENST00000358273.4	+	28	4201_4202	c.3818_3819delCT	c.(3817-3819)afs	p.T1273fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.T1273fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1273	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1275fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCATGCAGACTCTCTTCCGAG	0.416			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	558	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													7	200	---	---	---	---					
CNTNAP1	8506	broad.mit.edu	37	17	40843872	40843873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:40843872_40843873insC	ENST00000264638.4	+	16	2610_2611	c.2393_2394insC	c.(2392-2394)tccfs	p.S798fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	798					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCACTACGCTTCCCCCCAATCC	0.564													10	645	---	---	---	---					
KIF18B	146909	broad.mit.edu	37	17	43010100	43010101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:43010100_43010101insC	ENST00000587309.1	-	9	1201_1202	c.1178_1179insG	c.(1177-1179)gggfs	p.G393fs	KIF18B_ENST00000438933.2_Frame_Shift_Ins_p.G393fs|KIF18B_ENST00000590129.1_Frame_Shift_Ins_p.G402fs|KIF18B_ENST00000593135.1_Frame_Shift_Ins_p.G393fs|KIF18B_ENST00000339151.4_Frame_Shift_Ins_p.G393fs	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGGGCTGGCCTCCCCCCTCATA	0.644													8	167	---	---	---	---					
NFE2L1	4779	broad.mit.edu	37	17	46135787	46135788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:46135787_46135788insG	ENST00000362042.3	+	6	1719_1720	c.1103_1104insG	c.(1102-1104)cggfs	p.R368fs	NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.R180fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.R212fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.R169fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.R357fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	368					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCGTCCCTGGGGGGCTGCA	0.604													8	280	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													12	1076	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													18	1723	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	336	---	---	---	---					
ZNF566	84924	broad.mit.edu	37	19	36940725	36940726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:36940725_36940726insC	ENST00000454319.1	-	5	547_548	c.413_414insG	c.(412-414)gcafs	p.A138fs	ZNF566_ENST00000424129.2_Frame_Shift_Ins_p.A137fs|ZNF566_ENST00000493391.1_Frame_Shift_Ins_p.A33fs|ZNF566_ENST00000392170.2_Frame_Shift_Ins_p.A138fs|ZNF566_ENST00000434377.2_Frame_Shift_Ins_p.A137fs	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GATTGAAATGTCCCCCCTGAGA	0.391													11	476	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													8	161	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													19	669	---	---	---	---					
GIPR	2696	broad.mit.edu	37	19	46180611	46180611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:46180611delT	ENST00000590918.1	+	9	923	c.824delT	c.(823-825)ggfs	p.V275fs	GIPR_ENST00000304207.8_Frame_Shift_Del_p.V239fs|GIPR_ENST00000263281.3_Frame_Shift_Del_p.V275fs	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	275					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATTCCCTGGGTGATCGTCAGG	0.706													2	4	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													9	326	---	---	---	---					
RPRD1B	58490	broad.mit.edu	37	20	36676873	36676874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:36676873_36676874insC	ENST00000373433.4	+	3	807_808	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	135										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CCAAGAGCCCTCCCCCCAAAGG	0.470													14	361	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													14	328	---	---	---	---					
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr20:57478756_57478757insC	ENST00000371100.4	+	5	2823_2824	c.2271_2272insC	c.(2269-2274)gtccccfs	p.VP757fs	GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	114					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			8	201	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs8175341		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416													8	1176	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41414355	41414356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr21:41414355_41414356insG	ENST00000400454.1	-	32	6105_6106	c.5628_5629insC	c.(5626-5631)ccaaccfs	p.T1877fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1877					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTGAGGTTTGGGGGGAGATG	0.569													7	255	---	---	---	---					
MTMR3	8897	broad.mit.edu	37	22	30408493	30408494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:30408493_30408494insC	ENST00000333027.3	+	13	1586_1587	c.1258_1259insC	c.(1258-1260)cccfs	p.P420fs	MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.P420fs|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.P420fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.P420fs|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.P284fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	420	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGGGACCGCACCCCCCAGATT	0.545													13	1525	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													14	610	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													7	120	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													20	409	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													8	423	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								20	150	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs104886321		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:107834821_107834822insC	ENST00000328300.6	+	21	1614_1615	c.1370_1371insC	c.(1369-1371)gccfs	p.A457fs	COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis				7	795	---	---	---	---					
ZCCHC16	340595	broad.mit.edu	37	X	111698756	111698756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:111698756delC	ENST00000340433.2	+	1	1030	c.800delC	c.(799-801)acfs	p.T267fs		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	267							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGCCTCTCACCCCAGCCAAA	0.547													76	177	---	---	---	---					
SLC6A9	6536	broad.mit.edu	37	1	44489925	44489926	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:44489925_44489926insC	ENST00000372310.3	-	2	189_190	c.24_25insG	c.(22-27)ggtgctfs	p.A9fs	SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Ins_p.A9fs|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	340						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTCACCAGCATCCCTTTGGCAC	0.634													95	686	---	---	---	---					
LOC100129620	100129620	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs57656522		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													2	4	---	---	---	---					
LOC400800	400800	broad.mit.edu	37	1	199130158	199130158	+	RNA	DEL	A	A	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:199130158delA	ENST00000452199.1	+	0	140																											ggaaggaaggaaggaaggaag	0.468													2	4	---	---	---	---					
RAB3GAP2	25782	broad.mit.edu	37	1	220406172	220406172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:220406172delC	ENST00000358951.2	-	2	265	c.149delG	c.(148-150)gafs	p.G50fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	50					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTCCCATGCTCCCCAACCATC	0.328													41	227	---	---	---	---					
MIXL1	83881	broad.mit.edu	37	1	226413314	226413314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr1:226413314delA	ENST00000366810.5	+	2	564	c.500delA	c.(499-501)gafs	p.E167fs	MIXL1_ENST00000542034.1_Frame_Shift_Del_p.E175fs|MIXL1_ENST00000557734.1_3'UTR			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CCTGGAACTGAAACGAAATGT	0.552													73	161	---	---	---	---					
WDR35	57539	broad.mit.edu	37	2	20133236	20133237	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:20133236_20133237delCA	ENST00000345530.3	-	23	2731_2732	c.2616_2617delTG	c.(2614-2619)tgaafs	p.CE872fs	WDR35_ENST00000281405.4_Frame_Shift_Del_p.CE861fs|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	872										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTGTTCACACATTCCAA	0.356													39	134	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32678942	32678950	+	In_Frame_Del	DEL	AAGTTGAAC	AAGTTGAAC	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:32678942_32678950delAAGTTGAAC	ENST00000421745.2	+	23	4819_4827	c.4685_4693delAAGTTGAAC	c.(4684-4695)gct>g	p.EVEP1562del		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1562					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGACTTTTGGAAGTTGAACCTCTGCACTT	0.383													26	299	---	---	---	---					
REG3G	130120	broad.mit.edu	37	2	79254958	79254958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:79254958delG	ENST00000272324.5	+	5	543	c.359delG	c.(358-360)tgfs	p.W120fs	REG3G_ENST00000393897.2_Frame_Shift_Del_p.W120fs|REG3G_ENST00000409471.1_Frame_Shift_Del_p.W74fs	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	120	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGATGGATGGGAGTGGAGT	0.512													9	365	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148683685	148683686	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr2:148683685_148683686insA	ENST00000241416.7	+	10	1938_1939	c.1302_1303insA	c.(1300-1305)caaaaafs	p.QK434fs	ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.QK434fs|ACVR2A_ENST00000535787.1_Frame_Shift_Ins_p.QK326fs|ACVR2A_ENST00000495775.1_3'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	434	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGTTGTGCATAAAAAAAAGAG	0.366													54	161	---	---	---	---					
HNRNPD	3184	broad.mit.edu	37	4	83278025	83278025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr4:83278025delC	ENST00000313899.7	-	6	1054	c.777delG	c.(775-777)tcfs	p.S259fs	HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.S207fs|HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.S105fs|HNRNPD_ENST00000508119.1_5'UTR|HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.S259fs|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.S240fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	259	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						ATTGTTCCTTCGACATGGCTA	0.368													151	572	---	---	---	---					
C7	730	broad.mit.edu	37	5	40931243	40931243	+	Splice_Site	DEL	T	T	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr5:40931243delT	ENST00000313164.9	+	3	497		c.e3+2			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGACTCAGGTAGGACCATGC	0.408													18	72	---	---	---	---					
RSPH10B	222967	broad.mit.edu	37	7	6006564	6006564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:6006564delG	ENST00000405415.1	-	2	570	c.184delC	c.(184-186)aafs	p.Q62fs	RSPH10B_ENST00000337579.3_Frame_Shift_Del_p.Q62fs|RSPH10B_ENST00000441023.2_Frame_Shift_Del_p.Q62fs|RSPH10B_ENST00000404406.1_Frame_Shift_Del_p.Q62fs			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	62										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGAACGTTTTGGCGGTCTTTT	0.483													32	212	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92764820	92764820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:92764820delC	ENST00000318238.4	-	5	1681	c.465delG	c.(463-465)aafs	p.K155fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K155fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K155fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	155										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGGTTTTAGCTTACCCTTTT	0.358													68	207	---	---	---	---					
OR2F2	135948	broad.mit.edu	37	7	143633070	143633070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:143633070delG	ENST00000408955.2	+	1	812	c.745delG	c.(745-747)ccfs	p.A249fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CACGGTGGTTGCCCTGTGCTA	0.502													24	189	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149499116	149499117	+	RNA	DEL	AT	AT	-	rs61047652		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCCCCATGCCCCTGCAG	0.703													7	9	---	---	---	---					
CSMD1	64478	broad.mit.edu	37	8	3216722	3216722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:3216722delG	ENST00000520002.1	-	22	3814	c.3259delC	c.(3259-3261)tgfs	p.L1087fs	CSMD1_ENST00000400186.3_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.L1087fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.L1086fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.L1087fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1087	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCCACCCAGGCAGGTAAGC	0.552													18	127	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100779108	100779121	+	Frame_Shift_Del	DEL	TCAATCTCGTGAAT	TCAATCTCGTGAAT	-	rs145846582		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:100779108_100779121delTCAATCTCGTGAAT	ENST00000358544.2	+	40	7343_7356	c.7232_7245delTCAATCTCGTGAAT	c.(7231-7245)afs	p.INLVN2411fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.INLVN2386fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCCGGATATCAATCTCGTGAATGACCAGAAGA	0.374													18	134	---	---	---	---					
CYHR1	50626	broad.mit.edu	37	8	145689659	145689659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr8:145689659delC	ENST00000403000.2	-	2	1017	c.430delG	c.(430-432)cgfs	p.A144fs	CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000438911.2_Intron|CYHR1_ENST00000424149.2_Frame_Shift_Del_p.A144fs|CYHR1_ENST00000306145.5_Frame_Shift_Del_p.A144fs	NM_032687.3	NP_116076.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	0						perinuclear region of cytoplasm	zinc ion binding	p.A144fs*>50(1)		haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCCAGCATCGCCCCCCCCCAC	0.632											OREG0019056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	407	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:94486955delG	ENST00000375708.3	-	9	2019	c.1821delC	c.(1819-1821)tcfs	p.S608fs	ROR2_ENST00000375715.1_Frame_Shift_Del_p.S468fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	608	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607													45	102	---	---	---	---					
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:107289148delG	ENST00000277216.3	-	1	342	c.343delC	c.(343-345)ttfs	p.L115fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438													26	239	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137623482	137623482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr9:137623482delG	ENST00000371817.3	+	8	1719	c.1305delG	c.(1303-1305)ccfs	p.P435fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGCCGGCGAACCAGG	0.642													11	157	---	---	---	---					
CYP26A1	1592	broad.mit.edu	37	10	94834760	94834761	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:94834760_94834761insT	ENST00000371531.1	+	3	810_811	c.432_433insT	c.(430-435)gctcgafs	p.R145fs	CYP26A1_ENST00000394139.1_Frame_Shift_Ins_p.R145fs|CYP26A1_ENST00000224356.4_Frame_Shift_Ins_p.R214fs	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	214					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				TTGTGGAGGCCTTCGAGGAAAT	0.649													39	74	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98188503	98188504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr10:98188503_98188504insC	ENST00000357947.3	-	5	747_748	c.522_523insG	c.(520-525)gggccafs	p.P175fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	175	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCCTCTGGCTCCCTGAAACAA	0.446													17	81	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													8	99	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47776187	47776187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:47776187delC	ENST00000263773.5	-	3	355	c.343delG	c.(343-345)acfs	p.D115fs	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	115										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCATCACTGTCAGCATAAGCA	0.383													48	151	---	---	---	---					
RP11-718B12.2	0	broad.mit.edu	37	11	82517533	82517533	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr11:82517533delG	ENST00000526305.1	+	0	63																											GTCTGATAGAGGGGGAGGCAG	0.473													13	127	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104126791	104126792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr12:104126791_104126792insT	ENST00000388887.2	+	51	5495_5496	c.5291_5292insT	c.(5290-5292)gttfs	p.V1764fs		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1764	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGACTCAGGTTTGCTGAGTG	0.569													95	124	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146237	20146237	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:20146237delG	ENST00000555580.1	-	0	225																											AGTATTTCAAGCACACTGAAC	0.468													16	74	---	---	---	---					
MIR381HG	378881	broad.mit.edu	37	14	101514904	101514905	+	RNA	DEL	GT	GT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:101514904_101514905delGT	ENST00000553692.1	+	0	28																											CACCTCTGGGgtgtgtgtgtgt	0.470													2	4	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105405564	105405564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:105405564delG	ENST00000333244.5	-	7	16343	c.16224delC	c.(16222-16224)ccfs	p.P5408fs	AHNAK2_ENST00000557457.1_Frame_Shift_Del_p.P406fs	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5408						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCACAGTGGGGATGAACA	0.522													31	68	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105416636	105416636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr14:105416636delG	ENST00000333244.5	-	7	5271	c.5152delC	c.(5152-5154)agfs	p.Q1718fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1718						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCCAGCCTGGACCTCCAGG	0.622													45	396	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28902489	28902490	+	RNA	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:28902489_28902490insT	ENST00000528584.1	+	0	532					NR_036443.1																						CATGGCGCTTCTTGATGAAATA	0.450													64	130	---	---	---	---					
CCDC33	80125	broad.mit.edu	37	15	74627454	74627454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr15:74627454delC	ENST00000268082.4	+	9	1065	c.1045delC	c.(1045-1047)ccfs	p.P349fs	CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000558821.1_Frame_Shift_Del_p.P315fs|CCDC33_ENST00000321288.5_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGAGTAGCTCCCAGGGGTTC	0.602													93	222	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72993508	72993509	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr16:72993508_72993509insC	ENST00000268489.5	-	2	1208_1209	c.536_537insG	c.(535-537)gaafs	p.E179fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	179					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCCCTTGCTTGCCCCCCGCGCC	0.639													12	84	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579470	7579470	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:7579470delC	ENST00000420246.2	-	4	349	c.217delG	c.(217-219)tgfs	p.V73fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGGGCCACGGGGGGAGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	142	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12656396	12656396	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:12656396delC	ENST00000425538.1	+	10	1991	c.1791delC	c.(1789-1791)cafs	p.H597fs	MYOCD_ENST00000395988.1_Frame_Shift_Del_p.H501fs|MYOCD_ENST00000343344.4_Frame_Shift_Del_p.H597fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	597					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGAGTGTCACCCACCGGCTT	0.507													11	241	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562738	29562739	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr17:29562738_29562739delCT	ENST00000358273.4	+	28	4201_4202	c.3818_3819delCT	c.(3817-3819)afs	p.T1273fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.T1273fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1273	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1275fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCATGCAGACTCTCTTCCGAG	0.416			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	317	---	---	---	---					
LZTR1	8216	broad.mit.edu	37	22	21348256	21348256	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chr22:21348256delG	ENST00000215739.8	+	13	1756	c.1397delG	c.(1396-1398)cgfs	p.R466fs	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Frame_Shift_Del_p.R447fs	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	466	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACAGCGCGGAGCCGCTGG	0.647													11	21	---	---	---	---					
ZCCHC16	340595	broad.mit.edu	37	X	111698756	111698756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	d4687ccf-3db2-457f-b3da-05ffc8462aaa	g.chrX:111698756delC	ENST00000340433.2	+	1	1030	c.800delC	c.(799-801)acfs	p.T267fs		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	267							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGCCTCTCACCCCAGCCAAA	0.547													53	132	---	---	---	---					
SLC6A9	6536	broad.mit.edu	37	1	44489925	44489926	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:44489925_44489926insC	ENST00000372310.3	-	2	189_190	c.24_25insG	c.(22-27)ggtgctfs	p.A9fs	SLC6A9_ENST00000372306.3_Frame_Shift_Ins_p.A9fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	340						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTCACCAGCATCCCTTTGGCAC	0.634													15	153	---	---	---	---					
CELF3	11189	broad.mit.edu	37	1	151680126	151680127	+	Splice_Site	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:151680126_151680127insG	ENST00000290583.4	-	7	1424		c.e7-2		RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Splice_Site|CELF3_ENST00000470688.1_Splice_Site|CELF3_ENST00000290585.4_Splice_Site	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3						nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CTGCATCAGCTGGGGGGAGGGG	0.693													2	4	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													7	502	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													9	81	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													13	541	---	---	---	---					
RAB3GAP2	25782	broad.mit.edu	37	1	220406172	220406172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:220406172delC	ENST00000358951.2	-	2	265	c.149delG	c.(148-150)gafs	p.G50fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	50					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTCCCATGCTCCCCAACCATC	0.328													66	177	---	---	---	---					
MIXL1	83881	broad.mit.edu	37	1	226413314	226413314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:226413314delA	ENST00000366810.5	+	2	564	c.500delA	c.(499-501)gafs	p.E167fs	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Frame_Shift_Del_p.E175fs			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CCTGGAACTGAAACGAAATGT	0.552													21	82	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													7	905	---	---	---	---					
OR2L5	81466	broad.mit.edu	37	1	248185308	248185308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248185308delC	ENST00000355281.1	+	1	59	c.59delC	c.(58-60)tafs	p.S20fs	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1			olfactory receptor, family 2, subfamily L, member 5																		TTCCCACCATCAAAAATTGGC	0.408													119	588	---	---	---	---					
WDR35	57539	broad.mit.edu	37	2	20133236	20133237	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:20133236_20133237delCA	ENST00000345530.3	-	23	2731_2732	c.2616_2617delTG	c.(2614-2619)tgaafs	p.CE872fs	WDR35_ENST00000281405.4_Frame_Shift_Del_p.CE861fs|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	872										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTGTTCACACATTCCAA	0.356													113	257	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32678942	32678950	+	In_Frame_Del	DEL	AAGTTGAAC	AAGTTGAAC	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:32678942_32678950delAAGTTGAAC	ENST00000421745.2	+	23	4819_4827	c.4685_4693delAAGTTGAAC	c.(4684-4695)gct>g	p.EVEP1562del		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1562					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGACTTTTGGAAGTTGAACCTCTGCACTT	0.383													23	303	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179611375	179611375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:179611375delC	ENST00000360870.5	-	46	15974	c.15752delG	c.(15751-15753)gafs	p.G5251fs	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8770	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTACTCTCCCCCTTCTCC	0.408													8	255	---	---	---	---					
CXCR2P1	3580	broad.mit.edu	37	2	218925421	218925421	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:218925421delG	ENST00000439871.1	-	0	959					NR_002712.1																						TGCCCCATATGGGCCTTAAAC	0.552													10	349	---	---	---	---					
HNRNPD	3184	broad.mit.edu	37	4	83278025	83278025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:83278025delC	ENST00000313899.7	-	6	1054	c.777delG	c.(775-777)tcfs	p.S259fs	HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.S207fs|HNRNPD_ENST00000508119.1_5'UTR|HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.S259fs|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.S240fs|HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.S105fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	259	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						ATTGTTCCTTCGACATGGCTA	0.368													125	570	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													7	185	---	---	---	---					
C7	730	broad.mit.edu	37	5	40931243	40931243	+	Splice_Site	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:40931243delT	ENST00000313164.9	+	3	497		c.e3+2			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGACTCAGGTAGGACCATGC	0.408													45	119	---	---	---	---					
LINC01183	728586	broad.mit.edu	37	5	127273686	127273687	+	RNA	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:127273686_127273687insC	ENST00000514853.2	+	0	591																											GTTCCAATGCACCCCCCTCCAC	0.535													2	4	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150922939	150922940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:150922939_150922940insG	ENST00000261800.5	-	9	7760_7761	c.7748_7749insC	c.(7747-7749)ccafs	p.P2583fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2583	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P2583fs*42(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAACTGTGGGGGGTTGTC	0.470													7	439	---	---	---	---					
PTK7	5754	broad.mit.edu	37	6	43111195	43111196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:43111195_43111196insC	ENST00000230419.4	+	14	2309_2310	c.2088_2089insC	c.(2086-2091)ccccccfs	p.PP696fs	PTK7_ENST00000349241.2_Frame_Shift_Ins_p.PP566fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.PP656fs|PTK7_ENST00000481273.1_Frame_Shift_Ins_p.PP704fs|PTK7_ENST00000352931.2_Frame_Shift_Ins_p.PP640fs	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	696					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGCAGCCCTCCCCCCTACAA	0.604											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	205	---	---	---	---					
CASC6	101929083	broad.mit.edu	37	6	92391745	92391745	+	RNA	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:92391745delT	ENST00000437768.1	-	0	263																											TCCAGCCACATTTTTGAATAC	0.433													2	4	---	---	---	---					
UTRN	7402	broad.mit.edu	37	6	144782471	144782471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:144782471delA	ENST00000367545.3	+	21	2846	c.2846delA	c.(2845-2847)gafs	p.E949fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	949					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCTGCAAGAAAAAAAGGTA	0.348													7	274	---	---	---	---					
RSPH10B	222967	broad.mit.edu	37	7	6006564	6006564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:6006564delG	ENST00000405415.1	-	2	570	c.184delC	c.(184-186)aafs	p.Q62fs	RSPH10B_ENST00000441023.2_Frame_Shift_Del_p.Q62fs|RSPH10B_ENST00000404406.1_Frame_Shift_Del_p.Q62fs|RSPH10B_ENST00000337579.3_Frame_Shift_Del_p.Q62fs			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	62										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGAACGTTTTGGCGGTCTTTT	0.483													28	102	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92764820	92764820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:92764820delC	ENST00000318238.4	-	5	1681	c.465delG	c.(463-465)aafs	p.K155fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K155fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K155fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	155										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGGTTTTAGCTTACCCTTTT	0.358													413	892	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100285169	100285170	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:100285169_100285170insG	ENST00000275732.5	-	4	1540_1541	c.331_332insC	c.(331-333)ggcfs	p.G111fs	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	111								p.L111fs*234(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTGCCAGCCAGGGGGGGGCCA	0.673													4	5	---	---	---	---					
CNOT4	4850	broad.mit.edu	37	7	135106950	135106951	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:135106950_135106951insT	ENST00000428680.2	-	3	605_606	c.326_327insA	c.(325-327)actfs	p.T109fs	CNOT4_ENST00000414802.1_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000423368.2_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000356162.4_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000361528.4_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000451834.1_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000541284.1_Frame_Shift_Ins_p.T109fs|CNOT4_ENST00000315544.5_Frame_Shift_Ins_p.T109fs	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	109	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTAC	0.356													7	408	---	---	---	---					
OR2F2	135948	broad.mit.edu	37	7	143633070	143633070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:143633070delG	ENST00000408955.2	+	1	812	c.745delG	c.(745-747)ccfs	p.A249fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CACGGTGGTTGCCCTGTGCTA	0.502													32	455	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100779108	100779121	+	Frame_Shift_Del	DEL	TCAATCTCGTGAAT	TCAATCTCGTGAAT	-	rs145846582		TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:100779108_100779121delTCAATCTCGTGAAT	ENST00000358544.2	+	40	7343_7356	c.7232_7245delTCAATCTCGTGAAT	c.(7231-7245)afs	p.INLVN2411fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.INLVN2386fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCCGGATATCAATCTCGTGAATGACCAGAAGA	0.374													16	179	---	---	---	---					
FBXO43	286151	broad.mit.edu	37	8	101153252	101153255	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:101153252_101153255delTCTT	ENST00000428847.2	-	2	1543_1546	c.1227_1230delAAGA	c.(1225-1230)aafs	p.KR409fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	409					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGCTGCTGCTCTTTTTTCAGAGT	0.490													7	153	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)gatfs	p.D339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589													8	531	---	---	---	---					
SECISBP2	79048	broad.mit.edu	37	9	91943617	91943618	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:91943617_91943618insA	ENST00000375807.3	+	5	688_689	c.617_618insA	c.(616-618)gaafs	p.E206fs	SECISBP2_ENST00000339901.4_Frame_Shift_Ins_p.E133fs|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Frame_Shift_Ins_p.E138fs	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	206					translation	nucleus	mRNA 3'-UTR binding	p.N208fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAATCATTGCAAAAAATGTAT	0.356													7	202	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:94486955delG	ENST00000375708.3	-	9	2019	c.1821delC	c.(1819-1821)tcfs	p.S608fs	ROR2_ENST00000375715.1_Frame_Shift_Del_p.S468fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	608	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607													48	155	---	---	---	---					
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:107289148delG	ENST00000277216.3	-	1	342	c.343delC	c.(343-345)ttfs	p.L115fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438													95	757	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137623482	137623482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:137623482delG	ENST00000371817.3	+	8	1719	c.1305delG	c.(1303-1305)ccfs	p.P435fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGCCGGCGAACCAGG	0.642													15	101	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98188503	98188504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:98188503_98188504insC	ENST00000357947.3	-	5	747_748	c.522_523insG	c.(520-525)gggccafs	p.P175fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	175	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCCTCTGGCTCCCTGAAACAA	0.446													19	93	---	---	---	---					
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:14529252_14529254delCAT	ENST00000530457.1	-	9	1138_1140	c.608_610delATG	c.(607-612)gtg>g	p.DV203del	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.360													7	518	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47776187	47776187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:47776187delC	ENST00000263773.5	-	3	355	c.343delG	c.(343-345)acfs	p.D115fs	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	115										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCATCACTGTCAGCATAAGCA	0.383													103	298	---	---	---	---					
RP11-718B12.2	0	broad.mit.edu	37	11	82517533	82517533	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:82517533delG	ENST00000526305.1	+	0	63																											GTCTGATAGAGGGGGAGGCAG	0.473													20	246	---	---	---	---					
MMP20	9313	broad.mit.edu	37	11	102487558	102487558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:102487558delT	ENST00000260228.2	-	2	371	c.359delA	c.(358-360)atfs	p.N120fs	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	120					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TGTCAAAGTATTTTTTTTCCA	0.398													7	189	---	---	---	---					
A2ML1	144568	broad.mit.edu	37	12	9001442	9001443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:9001442_9001443insC	ENST00000299698.7	+	16	2140_2141	c.1960_1961insC	c.(1960-1962)gagfs	p.E654fs	A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.E163fs	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAAGGGCATTCGAGCCAGCGT	0.525													7	1893	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													2	4	---	---	---	---					
RXFP2	122042	broad.mit.edu	37	13	32376429	32376429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr13:32376429delA	ENST00000298386.2	+	18	2223	c.2152delA	c.(2152-2154)aafs	p.K720fs	RXFP2_ENST00000380314.1_Frame_Shift_Del_p.K696fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	720						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTCAAAATTAAAAAAAAAAG	0.348													9	218	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													11	196	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28902489	28902490	+	RNA	INS	-	-	T			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:28902489_28902490insT	ENST00000528584.1	+	0	532					NR_036443.1																						CATGGCGCTTCTTGATGAAATA	0.450													56	351	---	---	---	---					
CCDC33	80125	broad.mit.edu	37	15	74627454	74627454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:74627454delC	ENST00000268082.4	+	9	1065	c.1045delC	c.(1045-1047)ccfs	p.P349fs	CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000558821.1_Frame_Shift_Del_p.P315fs|CCDC33_ENST00000398814.3_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGAGTAGCTCCCAGGGGTTC	0.602													30	154	---	---	---	---					
GPR139	124274	broad.mit.edu	37	16	20043388	20043389	+	Frame_Shift_Ins	INS	-	-	G	rs140063049	byFrequency	TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:20043388_20043389insG	ENST00000570682.1	-	2	1030_1031	c.730_731insC	c.(730-732)catfs	p.H244fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCAA	0.545													7	194	---	---	---	---					
USP31	57478	broad.mit.edu	37	16	23079851	23079852	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:23079851_23079852insC	ENST00000219689.7	-	16	3573_3574	c.3574_3575insG	c.(3574-3576)cggfs	p.R1192fs	USP31_ENST00000567975.1_Frame_Shift_Ins_p.R485fs	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1192	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGCTTCCCGGCCCCCCTGCCC	0.644													7	151	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72993508	72993509	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:72993508_72993509insC	ENST00000268489.5	-	2	1208_1209	c.536_537insG	c.(535-537)gaafs	p.E179fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	179					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCCCTTGCTTGCCCCCCGCGCC	0.639													8	32	---	---	---	---					
WDR59	79726	broad.mit.edu	37	16	74943495	74943496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:74943495_74943496insG	ENST00000262144.6	-	16	1675_1676	c.1545_1546insC	c.(1543-1548)cctaccfs	p.T516fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	516										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AACGTCGGTAAGGGGGGAGTGA	0.554													9	451	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579470	7579470	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:7579470delC	ENST00000420246.2	-	4	349	c.217delG	c.(217-219)tgfs	p.V73fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGGGCCACGGGGGGAGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			70	289	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:8409750_8409751insG	ENST00000360416.3	-	27	3409_3410	c.3271_3272insC	c.(3271-3273)cgafs	p.R1091fs	MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs|MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515													8	225	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562738	29562739	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:29562738_29562739delCT	ENST00000358273.4	+	28	4201_4202	c.3818_3819delCT	c.(3817-3819)afs	p.T1273fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.T1273fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1273	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1275fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCATGCAGACTCTCTTCCGAG	0.416			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	558	---	---	---	---					
GIPR	2696	broad.mit.edu	37	19	46180611	46180611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02W-0928-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2773f71-23ca-4f92-99cb-1452846a1b36	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:46180611delT	ENST00000590918.1	+	9	923	c.824delT	c.(823-825)ggfs	p.V275fs	GIPR_ENST00000304207.8_Frame_Shift_Del_p.V239fs|GIPR_ENST00000263281.3_Frame_Shift_Del_p.V275fs	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	275					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		ATTCCCTGGGTGATCGTCAGG	0.706													2	4	---	---	---	---					
SLC6A9	6536	broad.mit.edu	37	1	44489925	44489926	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:44489925_44489926insC	ENST00000372310.3	-	2	189_190	c.24_25insG	c.(22-27)ggtgctfs	p.A9fs	SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Ins_p.A9fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	340						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTCACCAGCATCCCTTTGGCAC	0.634													95	686	---	---	---	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)del	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													9	282	---	---	---	---					
RAB3GAP2	25782	broad.mit.edu	37	1	220406172	220406172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:220406172delC	ENST00000358951.2	-	2	265	c.149delG	c.(148-150)gafs	p.G50fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	50					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTCCCATGCTCCCCAACCATC	0.328													41	227	---	---	---	---					
MIXL1	83881	broad.mit.edu	37	1	226413314	226413314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:226413314delA	ENST00000366810.5	+	2	564	c.500delA	c.(499-501)gafs	p.E167fs	MIXL1_ENST00000542034.1_Frame_Shift_Del_p.E175fs|MIXL1_ENST00000557734.1_3'UTR			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	167					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CCTGGAACTGAAACGAAATGT	0.552													73	161	---	---	---	---					
OR2L5	81466	broad.mit.edu	37	1	248185308	248185308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr1:248185308delC	ENST00000355281.1	+	1	59	c.59delC	c.(58-60)tafs	p.S20fs	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1			olfactory receptor, family 2, subfamily L, member 5																		TTCCCACCATCAAAAATTGGC	0.408													57	259	---	---	---	---					
WDR35	57539	broad.mit.edu	37	2	20133236	20133237	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:20133236_20133237delCA	ENST00000345530.3	-	23	2731_2732	c.2616_2617delTG	c.(2614-2619)tgaafs	p.CE872fs	WDR35_ENST00000281405.4_Frame_Shift_Del_p.CE861fs|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	872										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTGTTCACACATTCCAA	0.356													39	134	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32678942	32678950	+	In_Frame_Del	DEL	AAGTTGAAC	AAGTTGAAC	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:32678942_32678950delAAGTTGAAC	ENST00000421745.2	+	23	4819_4827	c.4685_4693delAAGTTGAAC	c.(4684-4695)gct>g	p.EVEP1562del		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1562					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGACTTTTGGAAGTTGAACCTCTGCACTT	0.383													26	299	---	---	---	---					
REG3G	130120	broad.mit.edu	37	2	79254958	79254958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr2:79254958delG	ENST00000272324.5	+	5	543	c.359delG	c.(358-360)tgfs	p.W120fs	REG3G_ENST00000393897.2_Frame_Shift_Del_p.W120fs|REG3G_ENST00000409471.1_Frame_Shift_Del_p.W74fs	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	120	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGATGGATGGGAGTGGAGT	0.512													9	365	---	---	---	---					
HNRNPD	3184	broad.mit.edu	37	4	83278025	83278025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr4:83278025delC	ENST00000313899.7	-	6	1054	c.777delG	c.(775-777)tcfs	p.S259fs	HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.S259fs|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.S240fs|HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.S207fs|HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.S105fs|HNRNPD_ENST00000508119.1_5'UTR	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	259	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						ATTGTTCCTTCGACATGGCTA	0.368													151	572	---	---	---	---					
C7	730	broad.mit.edu	37	5	40931243	40931243	+	Splice_Site	DEL	T	T	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr5:40931243delT	ENST00000313164.9	+	3	497		c.e3+2			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGACTCAGGTAGGACCATGC	0.408													18	72	---	---	---	---					
PBX2	5089	broad.mit.edu	37	6	32155055	32155056	+	Frame_Shift_Ins	INS	-	-	G	rs143029272	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:32155055_32155056insG	ENST00000375050.4	-	6	1257_1258	c.987_988insC	c.(985-990)cagccgfs	p.QP329fs		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	329							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTGGTGCGGCTGTGGCCCCCCT	0.554													9	110	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146350672	146350672	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr6:146350672delT	ENST00000392299.2	+	2	489	c.19delT	c.(19-21)ttfs	p.F9fs	GRM1_ENST00000282753.1_Frame_Shift_Del_p.F9fs|GRM1_ENST00000355289.4_Frame_Shift_Del_p.F9fs|GRM1_ENST00000492807.2_Frame_Shift_Del_p.F9fs|GRM1_ENST00000361719.2_Frame_Shift_Del_p.F9fs|GRM1_ENST00000507907.1_Frame_Shift_Del_p.F9fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	9					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCTCCTTTTGTTTTTTTTCCC	0.642													7	406	---	---	---	---					
RSPH10B	222967	broad.mit.edu	37	7	6006564	6006564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:6006564delG	ENST00000405415.1	-	2	570	c.184delC	c.(184-186)aafs	p.Q62fs	RSPH10B_ENST00000404406.1_Frame_Shift_Del_p.Q62fs|RSPH10B_ENST00000441023.2_Frame_Shift_Del_p.Q62fs|RSPH10B_ENST00000337579.3_Frame_Shift_Del_p.Q62fs			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	62										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGAACGTTTTGGCGGTCTTTT	0.483													32	212	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													26	244	---	---	---	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:72413723_72413724insCTC	ENST00000395270.1	+	14	3437_3438	c.2396_2397insCTC	c.(2395-2397)ttt>tCTCtt	p.799_799F>SL	POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													8	76	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92764820	92764820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:92764820delC	ENST00000318238.4	-	5	1681	c.465delG	c.(463-465)aafs	p.K155fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K155fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K155fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	155										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGGTTTTAGCTTACCCTTTT	0.358													68	207	---	---	---	---					
OR2F2	135948	broad.mit.edu	37	7	143633070	143633070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr7:143633070delG	ENST00000408955.2	+	1	812	c.745delG	c.(745-747)ccfs	p.A249fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CACGGTGGTTGCCCTGTGCTA	0.502													24	189	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100779108	100779121	+	Frame_Shift_Del	DEL	TCAATCTCGTGAAT	TCAATCTCGTGAAT	-	rs145846582		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:100779108_100779121delTCAATCTCGTGAAT	ENST00000358544.2	+	40	7343_7356	c.7232_7245delTCAATCTCGTGAAT	c.(7231-7245)afs	p.INLVN2411fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.INLVN2386fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGCCGGATATCAATCTCGTGAATGACCAGAAGA	0.374													18	134	---	---	---	---					
FBXO43	286151	broad.mit.edu	37	8	101153252	101153255	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr8:101153252_101153255delTCTT	ENST00000428847.2	-	2	1543_1546	c.1227_1230delAAGA	c.(1225-1230)aafs	p.KR409fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	409					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGCTGCTGCTCTTTTTTCAGAGT	0.490													33	492	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:94486955delG	ENST00000375708.3	-	9	2019	c.1821delC	c.(1819-1821)tcfs	p.S608fs	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Frame_Shift_Del_p.S468fs	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	608	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607													45	102	---	---	---	---					
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:107289148delG	ENST00000277216.3	-	1	342	c.343delC	c.(343-345)ttfs	p.L115fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438													26	239	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137623482	137623482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr9:137623482delG	ENST00000371817.3	+	8	1719	c.1305delG	c.(1303-1305)ccfs	p.P435fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAATGCCGGCGAACCAGG	0.642													11	157	---	---	---	---					
CYP26A1	1592	broad.mit.edu	37	10	94834760	94834761	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:94834760_94834761insT	ENST00000371531.1	+	3	810_811	c.432_433insT	c.(430-435)gctcgafs	p.R145fs	CYP26A1_ENST00000224356.4_Frame_Shift_Ins_p.R214fs|CYP26A1_ENST00000394139.1_Frame_Shift_Ins_p.R145fs	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	214					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				TTGTGGAGGCCTTCGAGGAAAT	0.649													39	74	---	---	---	---					
TLL2	7093	broad.mit.edu	37	10	98188503	98188504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr10:98188503_98188504insC	ENST00000357947.3	-	5	747_748	c.522_523insG	c.(520-525)gggccafs	p.P175fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	175	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCCTCTGGCTCCCTGAAACAA	0.446													17	81	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47776187	47776187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:47776187delC	ENST00000263773.5	-	3	355	c.343delG	c.(343-345)acfs	p.D115fs	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	115										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCATCACTGTCAGCATAAGCA	0.383													48	151	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60703512	60703513	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:60703512_60703513insC	ENST00000005286.4	+	11	2361_2362	c.2208_2209insC	c.(2206-2211)ggtgccfs	p.A737fs	TMEM132A_ENST00000453848.2_Frame_Shift_Ins_p.A736fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	736	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGCCGAGGGGCTGCCGCTGCA	0.748													7	32	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	ENST00000398531.1	+	1	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(22-27)gggctg>ggGGCTGTGGCTCCGGCTGTGGGgctg	p.7_8insGAVAPAV	KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.7_8insGAVAPAV	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	7						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668													69	188	---	---	---	---					
RP11-718B12.2	0	broad.mit.edu	37	11	82517533	82517533	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr11:82517533delG	ENST00000526305.1	+	0	63																											GTCTGATAGAGGGGGAGGCAG	0.473													13	127	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													13	17	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146237	20146237	+	RNA	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:20146237delG	ENST00000555580.1	-	0	225																											AGTATTTCAAGCACACTGAAC	0.468													16	74	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105405564	105405564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:105405564delG	ENST00000333244.5	-	7	16343	c.16224delC	c.(16222-16224)ccfs	p.P5408fs	AHNAK2_ENST00000557457.1_Frame_Shift_Del_p.P406fs	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5408						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCACAGTGGGGATGAACA	0.522													31	68	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105416636	105416636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr14:105416636delG	ENST00000333244.5	-	7	5271	c.5152delC	c.(5152-5154)agfs	p.Q1718fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1718						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGCCAGCCTGGACCTCCAGG	0.622													45	396	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157																											CTCTGGATTCCAaaaaaaaaag	0.515													7	97	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28902489	28902490	+	RNA	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:28902489_28902490insT	ENST00000528584.1	+	0	532					NR_036443.1																						CATGGCGCTTCTTGATGAAATA	0.450													64	130	---	---	---	---					
CCDC33	80125	broad.mit.edu	37	15	74627454	74627454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr15:74627454delC	ENST00000268082.4	+	9	1065	c.1045delC	c.(1045-1047)ccfs	p.P349fs	CCDC33_ENST00000558821.1_Frame_Shift_Del_p.P315fs|CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000321288.5_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGAGTAGCTCCCAGGGGTTC	0.602													93	222	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													19	528	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													7	449	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72993508	72993509	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr16:72993508_72993509insC	ENST00000268489.5	-	2	1208_1209	c.536_537insG	c.(535-537)gaafs	p.E179fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	179					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCCCTTGCTTGCCCCCCGCGCC	0.639													12	84	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579470	7579470	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:7579470delC	ENST00000420246.2	-	4	349	c.217delG	c.(217-219)tgfs	p.V73fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGGGCCACGGGGGGAGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	142	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12656396	12656396	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:12656396delC	ENST00000425538.1	+	10	1991	c.1791delC	c.(1789-1791)cafs	p.H597fs	MYOCD_ENST00000343344.4_Frame_Shift_Del_p.H597fs|MYOCD_ENST00000395988.1_Frame_Shift_Del_p.H501fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	597					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGAGTGTCACCCACCGGCTT	0.507													11	241	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562738	29562739	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr17:29562738_29562739delCT	ENST00000358273.4	+	28	4201_4202	c.3818_3819delCT	c.(3817-3819)afs	p.T1273fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.T1273fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1273	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1275fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCATGCAGACTCTCTTCCGAG	0.416			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			18	317	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													9	263	---	---	---	---					
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs112129664	byFrequency	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr20:46279864_46279866delCAA	ENST00000372004.3	+	20	3994_3996	c.3778_3780delCAA	c.(3778-3780)del	p.Q1272del	NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567													18	39	---	---	---	---					
GART	2618	broad.mit.edu	37	21	34882121	34882122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr21:34882121_34882122insT	ENST00000381831.3	-	18	2683_2684	c.2420_2421insA	c.(2419-2421)agcfs	p.S807fs	GART_ENST00000381815.4_Frame_Shift_Ins_p.S807fs|GART_ENST00000543717.1_Frame_Shift_Ins_p.S359fs|GART_ENST00000381839.3_Frame_Shift_Ins_p.S807fs	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	807	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.K807fs*7(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCACTCTGGCCTTTTTTTTTTC	0.446													7	131	---	---	---	---					
LZTR1	8216	broad.mit.edu	37	22	21348256	21348256	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:21348256delG	ENST00000215739.8	+	13	1756	c.1397delG	c.(1396-1398)cgfs	p.R466fs	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Frame_Shift_Del_p.R447fs	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	466	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACAGCGCGGAGCCGCTGG	0.647													11	21	---	---	---	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859	by1000genomes	TCGA-44-2656-01A-02D-0969-08	TCGA-44-2656-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c797820e-f53e-49df-a7d0-0fcd7ea1d249	a44a1410-c679-4fa1-92c1-1de810a33ec2	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)cca>c	p.PAPAANPS253del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	253	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													11	17	---	---	---	---